Genetic counseling

Definition

Genetic counseling is a communication process by which personal genetic risk information is translated into practical information for families. Genetic counselors are health care professionals with specialized training and experience in the areas of medical genetics and counseling. Genetic counselors are able to assist individuals and families by:

• Helping people to understand information about birth defects or genetic disorders. This includes explaining patterns of inheritance, recurrence risks, natural history of diseases, and genetic testing options.
• Providing nondirective supportive counseling regarding emotional issues related to a diagnosis or testing options.
• Helping individuals and families make decisions with which they are comfortable, based on their personal ethical and religious standards.
• Connecting individuals and families with appropriate resources, such as support groups or specific types of medical clinics, locally and nationally.

Purpose

There are several purposes or aspects to be addressed within the scope of genetic counseling. These include obtaining a pedigree; tracing ethnicity; exploring issues of consanguinity; and documenting exposures to toxins, diseases, or environmental agents during pregnancy .

Pedigree

In all types of genetic counseling, an important aspect of the counseling process is information gathering about family and medical history. Information gathering is performed by drawing a chart called a pedigree. A pedigree is made of symbols and lines that represent a family history. To accurately assess the risk of inherited diseases, information about three generations of the family, including health status and cause of death, is usually needed. If a family history is complicated, information from more distant relatives may be helpful, and medical records may be requested for any family members who have had a genetic disorder. Thorough examination of a family history may enable a counselor to calculate the probability of occurrence of genetic disorders in the future.

Ethnicity

In obtaining a family history, a genetic counselor asks about a person's ethnicity or ancestral origin. There are some ethnic groups that have a higher chance of being carriers of some genetic diseases or abnormalities. For instance, the chance that an African American is a carrier of a gene for sickle cell disease is one in 10. People of Jewish or central European ancestry are likely to be carriers of several conditions, including Tay-Sachs disease, Canavan's disease and cystic fibrosis . People of Mediterranean ancestry are likely to be carriers of a type of anemia called thalassemia. Genetic counselors discuss inheritance patterns of these diseases, carrier risks, and genetic screening or testing options.

Consanguinity

Another question a genetic counselor asks in obtaining a family history is whether the couple are related to one another by blood . The practice of marrying or having children with relatives is infrequent in the United States, but is more common in some countries. When two people are related by blood, there is an increased chance for their children to be affected with conditions that are inherited in a recessive pattern. In recessive inheritance, each parent of a child affected with a disease carries a single gene for a disease. The child gets two copies, one from each parent, and is affected. People who have a common ancestor are more likely than unrelated people to be carriers of genes for the same recessively inherited disorders. Depending on family history and ethnic background, blood tests can be offered to couples to get more information about the chance of these conditions occurring.

Exposures during pregnancy

During prenatal genetic counseling, the counselor will ask about pregnancy history. If a woman has taken medications or has had exposure to a potentially harmful substance from the environment such as a chemical, toxin, or radiation, the genetic counselor can discuss the possibility of adverse effects. Ultrasound is often a useful tool to look for some effects of exposure.

Precautions

There are no physical precautions that are needed before genetic counseling. However, persons who will receive the results of genetic tests should be prepared mentally and emotionally for the possibility of unpleasant information. This includes discussing if they want to know the results of genetic testing and what choices they may have to make based on the information supplied.

Description

Types of genetic counseling

Genetic counselors work with people concerned about the risk of an inherited disease or condition. These people represent several different populations. Prenatal genetic counseling is provided to couples that have an increased risk of birth defects or inherited conditions, and are expecting a child or planning a pregnancy. Pediatric genetic counseling is provided to families with children suspected of having a genetic disorder or with children previously diagnosed with a genetic disorder. Adult genetic counseling is provided to adults with clinical features of an inherited disease or a family history of an inherited disease. Cancer genetic counseling is provided to those with a strong family history of certain types of cancer. Ethics are an important component of genetic counseling.

Prenatal genetic counseling

There are several different reasons a person or couple may seek prenatal genetic counseling. If a woman is age 35 or older and pregnant, there is an increased chance that her fetus may have a change in the number of chromosomes present. Changes in chromosome number may lead to mental retardation and birth defects. Down syndrome is the most common change in chromosome number that occurs proportionally more often in the fetuses of older women. Couples may seek prenatal genetic counseling because of abnormal results of screening tests performed during pregnancy. A blood test called the alpha fetal protein (AFP) test is offered to all pregnant women. This blood test screens for Down syndrome, open spine defects (spina bifida), and another type of mental retardation caused by a change in chromosome number called trisomy 18. When this test is abnormal, further tests are offered to get more information about the chance of these conditions actually occurring in the fetus. Another reason that people seek prenatal genetic counseling is a family history of birth defects or inherited diseases. In some cases, blood tests of the parents may be available to indicate if their children would be at risk of being affected. Genetic counselors assess risk in each case, help persons to understand their risks, and explore how they feel about or will cope with these risks.

Prenatal tests that are offered during genetic counseling include level II ultrasounds, maternal serum AFP screening, chorionic villus sampling (CVS), and amniocentesis . Level II ultrasound is a detailed ultra-sound surveying fetal anatomy for birth defects. Ultrasound is limited to detection of structural changes in anatomy and cannot detect changes in chromosome number. The maternal serum AFP screening is used to indicate if a pregnant woman has a higher or lower chance of having a child with certain birth defects. This test can only provide information concerning the probability of a birth defect. The screening cannot diagnose an actual birth defect. CVS is a way of learning how many chromosomes are present in a fetus. A small piece of placental tissue is obtained for these studies during the tenth to twelfth weeks of pregnancy. Amniocentesis is also a way of learning how many chromosomes are present in a fetus. Amniotic fluid is obtained for these studies, usually between 15 and 20 weeks of pregnancy. There is a small risk of miscarriage associated with both of these tests. Genetic counseling regarding these procedures involves the careful explanation of benefits and limitations of each testing option. A genetic counselor also tries to explore how persons feel about prenatal testing and the impact of such testing on the pregnancy. Genetic counselors are supportive of any decision a person makes about whether or not to have prenatal tests performed.

Pediatric genetic counseling

Families or pediatricians seek genetic counseling when a child has features of an inherited condition. Any child who is born with more than one birth defect; mental retardation; or dysmorphic features has an increased chance of having a genetic syndrome. A common type of mental retardation in males for which genetic testing is available is Fragile X syndrome. Genetic testing is also available for many other childhood illnesses such as hemophilia and muscular dystrophy . Genetic counselors work with medical geneticists to determine if a genetic syndrome is present. This process includes a careful examination of family history, medical history of the child, review of pertinent medical records in the family, a physical examination of the child, and sometimes blood work or other diagnostic tests. If a diagnosis is made, then a medical geneticist and genetic counselor review what is known about the inheritance of the condition, the natural history of the condition, treatment options, further examinations that may be needed for health problems common in the diagnosed syndrome, and resources for helping the family. The genetic counselor also helps the family adjust to the diagnosis by providing emotional support and counseling. Many families are devastated by receiving a diagnosis, learning of the likely outcome for the child and by the loss of the hoped for healthy child. There would also be a discussion about recurrence risks in the family and who else in the family may be at risk.

Adult genetic counseling

Adults may seek genetic counseling when a person in the family decides to be tested for the presence of a known genetic condition; when an adult begins exhibiting symptoms of an inherited condition; or when there is a new diagnosis of someone with an adult-onset disorder in the family. In addition, the birth of a child with obvious features of a genetic disease leads to diagnosis of a parent who is more mildly affected. Genetic counseling for adults may lead to the consideration of presymptomatic genetic testing. Testing a person to determine the likelihood for a condition existing before any symptoms occur is an area of controversy. Huntington's disease is an example of a genetic disease for which presymptomatic testing is available. This is a neurological disease resulting in dementia . Onset of the condition is between 30 and 50 years of age. Huntington's disease is inherited in an autosomal dominant pattern. If a person has a parent with the disease, the risk of being affected is 50%. Would presymptomatic testing relieve or create anxiety ? Would a person benefit from removal of doubt about being affected? Would knowing about the condition help a person with life planning? Genetic counselors help people sort through their feelings about such testing and whether or not the results would be helpful to them.

Cancer genetic counseling

A family history of early onset breast, ovarian, or colon cancer in multiple generations of a family is a common reason a person would seek a genetic counselor who works with people who have cancer. While most cancer is not inherited, there are some families in which a dominant gene is present and causing the disease. A genetic counselor is able to discuss the chances that the cancer in the family is related to a dominantly inherited gene. The counselor can also discuss the option of testing for the breast and ovarian cancer genes, BRCA1 and BRCA2. In some cases the persons seeking testing have already had cancer but others have not. Therefore, presymptomatic testing is also an issue in cancer genetics. Emotional support is important for these people, as they have often lost close relatives from cancer and are fearful of their own risks. For families in which a dominant form of cancer is detected through genetic testing, a plan can be made for increased surveillance of disease symptoms.

Ethical issues in genetic counseling

Prenatal diagnosis of anomalies or chromosomal abnormalities may lead to a decision about whether or not a couple wishes to continue a pregnancy. Some couples choose to continue a pregnancy. Prenatal diagnosis gives them additional time to emotionally prepare for the birth of the child and to gather resources. Others choose not to continue a pregnancy in which problems have been diagnosed. These couples have unique emotional needs. Often the child is a very much desired addition to the family and parents are devastated that the child is not healthy. Presymptomatic testing for adult-onset disorders and cancer raises difficult issues regarding the need to know and the reality of dealing with abnormal results before symptoms occur. The National Society of Genetic Counselors has created a Code of Ethics to guide genetic counselors in caring for people. The Code of Ethics consists of four ethical principles:

• Beneficience is the promotion of personal well-being in others. The genetic counselor is an advocate for the person being counseled.
• Non-maleficience is the concept of doing no harm to a person.
• Autonomy is recognizing the value of an individual, the person's abilities and point of view. Important aspects of autonomy are truthfulness with persons, respecting confidentiality, and practicing informed consent .
• Justice is providing equal care for all, freedom of choice, and providing a high quality of care.

The main ethical principle of genetic counseling is the attempt to provide nondirective counseling. This principle again points to an individual-centered approach to care by focusing on the thoughts and feelings of each person. Five percent of the Human Genome Project budget is designated for research involving the best way to deal with ethical issues that arise as new genetic tests become available. Genetic counselors can help people navigate through the unfamiliar territory of genetic testing.

Preparation

Persons should be apprised of possible outcomes and given the opportunity to discuss their feelings prior to undergoing genetic tests. There is a burden associated with knowing the probability of a future outcome. Difficult decisions may be required as a result of learning genetic information through testing. The process of adequately preparing an individual for genetic counseling is called informed consent. Ethical genetic counselors always obtain informed consent prior to undertaking any genetic tests.

Aftercare

Persons must be provided access to competent counselors and therapists. Such professionals can assist in processing the feelings and reactions that may emerge as a result of receiving the findings of genetic tests.

Complications

The complications that arise from the process of genetic counseling are most commonly mental and emotional. Individuals and couples who have received genetic counseling often experience mental changes such as depression and anguish when they receive unfavorable results about tests. Complications include the need to make difficult decisions regarding themselves, their families, or their unborn children. This is also referred to as a burden of knowing, meaning that likely but unwanted outcomes may become known before they occur. Depending on the condition, personal preferences and situation, persons may elect to continue with a pregnancy that is likely to result in a child with one or more abnormalities, terminate a pregnancy, select a different partner, or decide not to have children. These are all difficult situations that may require the assistance and intervention of a trained mental health counselor or therapist.

Results

The results given to a person during genetic counseling are highly individualized and depend on the nature of tests being performed and the issues of importance to the person being counseled.

The results of the process of genetic counseling vary. Genetic counseling offers information to people, thereby allowing them to make informed choices. Some of the options may not be easy or pleasant to contemplate. However, they are based on hard data rather than on wishes, hopes, or some other non-scientific basis. Genetic counselors have an ethical duty to obtain informed consent from individuals prior to beginning genetic counseling, provide unbiased information and the ability to interact in a non-judgmental or coercive manner.

Health care team roles

Genetic counselors are specially trained members of a health care team who have a master's degree in genetic counseling. They receive referrals from obstetricians, pediatricians, family physicians, and other doctors. They interpret the results of tests from laboratory personnel, medical geneticists, and pathologists. They refer people to therapists and counselors for assistance in resolving issues that arise from the process of genetic counseling.

KEY TERMS

Canavan disease —A serious genetic disease more common among the Eastern European Jewish population that causes mental retardation and early death. Canavan disease is caused by the lack of an enzyme called aspartoacylase.

Cystic fibrosis —A respiratory disease characterized by chronic lung disease, pancreatic insufficiency, and an average age of survival of 29 years. Cystic fibrosis is caused by mutations in a gene on chromosome seven that encode a transmembrane receptor.

Dysmorphic feature —A subtle change in appearance such as low set ears or a flattened nasal bridge that suggests a genetic syndrome may be present.

Fragile X syndrome —The most common inherited cause of mental retardation in males. People with Fragile X syndrome often have large ears, a long face, hyperextensible finger joints, hyperactivity or autism. Fragile X syndrome is caused by an expansion in a gene on the X chromosome. Some females are also affected. Human Genome Project —An international collaborative project among scientists to map the genetic sequence of all the chromosomes. This project is funded by the National Institute of Health in the United States.

Informed consent —Provision of complete information to a competent individual regarding a treatment or test. Part of informed consent is to ensure a person's understanding of the advantages and disadvantages of a procedure and to obtain voluntary authorization to perform the procedure. Sickle-cell anemia —A chronic, inherited blood disorder characterized by crescent-shaped red blood cells. It occurs primarily in people of African descent, and produces symptoms including episodic pain in the joints, fever, leg ulcers, and jaundice.

Tay-Sachs disease —A genetic disease affecting young children of eastern European Jewish descent. This disease is caused by the lack of an enzyme called hexosaminidase A. This deficiency results in mental retardation, convulsions, blindness and, finally, death.

Thalassemia —An inherited group of anemias occurring primarily among people of Mediterranean descent. It is caused by abnormal formation of part of the hemoglobin molecule.

Resources

BOOKS

Beaudet, Arthur L. "Genetics and disease." In Harrison's Principles of Internal Medicine, 14th ed., edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1998, 365-395.

Eanet, Karen, and Julia B. Rauch. Genetics and Genetic Services: A Child Welfare Worker's Guide. Washington, DC: Child Welfare League of America, 2000.

Hollingsworth, Alan B. The Truth About Breast Cancer Risk Assessment. Aurora, CO: National Writers Press, 2000.

Kessler, Seymour, and Robert G. Resta. Psyche and Helix: Psychological Aspects of Genetic Counseling. New York: Wiley, 2000.

Meager, Anthony. Gene Therapy Technologies, Applications and Regulations: From Laboratory to Clinic. New York: Wiley, 1999.

Needleman, Robert D. "Fetal growth and development." In Nelson Textbook of Pediatrics, 16th ed. edited by Richard E. Behrman et al., Philadelphia: Saunders, 2000, 27-30.

Seashore, Margretta R. "Genetic counseling." In Cecil Textbook of Medicine, 21st ed. edited by Goldman, Lee and Bennett, J. Claude. Philadelphia: W.B. Saunders, 2000, 439-442.

Weil, Jon. Psychosocial Genetic Counseling. New York: Oxford University Press, 2000.

PERIODICALS

Brooks, S.S. "Genetic counseling in the neuronal ceroid lipofuscinoses." Advances in Genetics 45 (2001): 159-167.

Brunger, J.W., Matthews AL, Smith RH, Robin NH. "Genetic testing and genetic counseling for deafness: The future is here." Laryngoscope 111, no. 4 Pt 1 (2001): 715-718.

Ciske, DJ, Haavisto A, Laxova A, Rock LZ, Farrell PM. "Genetic counseling and neonatal screening for cystic fibrosis: An assessment of the communication process." Pediatrics 107, no. 4 (2001):699-705.

Edwards, R.T. "Steering a course around the genetic iceberg." Journal of Public Health Medicine 23, no. 1 (2001): 3-4.

Ralston, SJ, Wertz D, Chelmow D, Craigo SD, Bianchi DW. "Pregnancy outcomes after prenatal diagnosis of aneuploidy." Obstetrics and Gynecology 97, no. 5 Pt 1 (2001): 729-733.

Welkenhuysen, M, Evers-Kiebooms G, d'Ydewalle G. "The language of uncertainty in genetic risk communication: Framing and verbal versus numerical information." Patient and Educational Counseling 43, no. 2 (2001): 179-187.

ORGANIZATIONS

American Board of Genetic Counseling, 9650 Rockville Pike, Bethesda, MD 20814-3998. (301) 571-1825. Fax: (301) 571-1895. <http://www.faseb.org/genetics/abgc/abgcmenu.htm>.

American Infertility Association, 666 Fifth Avenue, Suite 278, New York, NY 10103. (718) 621-5083. <http://www.americaninfertility.org>. [email protected].

American Public Health Association, 800 I Street, NW, Washington, DC 20001-3710. (202) 777-2742. Fax: (202) 777-2534. <http://www.apha.org>. [email protected].

American Society for Reproductive Medicine, 1209 Montgomery Highway, Birmingham, AL 35216-2809.(205) 978-5000. <http://www.asrm.com>.

OTHER

American College of Physicians. <http://www.acponline.org/journals/news/feb95/gencoun.htm>.

March of Dimes. <http://www.modimes.org/HealthLibrary2/faq/Genetic_Counseling.htm>.

National Human Genome Research Institute. <http://www.nhgri.nih.gov/DIR/VIP/Glossary/pub_glossary.cgi/pub_glossary.cgi?key=genetic%20counseling&view_value_pair=on>.

National Library of Medicine. <http://www.nlm.nih.gov/medlineplus/genetictestingcounseling.html>.

National Society of Genetic Counselors. <http://www.nsgc.org>.

Rush University School of Medicine. <http://www.rush.edu/worldbook/articles/007000a/007000027.html>.

University of Kansas Medical Center. <http://www.kumc.edu/gec/prof/gc.html>.

World Medical Association. <http://www.wma.net/e/policy/17-s_e.html>.

L. Fleming Fallon, Jr., MD, DrPH

Genetic Counseling

Definition

Genetic counseling is a communication process by which personal genetic risk information is translated into practical information for families. Genetic counselors are health care professionals with specialized training and experience in the areas of medical genetics and counseling. Genetic counselors are able to assist individuals and families by:

• Helping people to understand information about birth defects or genetic disorders. This includes explaining patterns of inheritance, recurrence risks, natural history of diseases, and genetic testing options.
• Providing nondirective supportive counseling regarding emotional issues related to a diagnosis or testing options.
• Helping individuals and families make decisions with which they are comfortable, based on their personal ethical and religious standards.
• Connecting individuals and families with appropriate resources, such as support groups or specific types of medical clinics, locally and nationally.

Purpose

There are several purposes or aspects to be addressed within the scope of genetic counseling. These include obtaining a pedigree; tracing ethnicity; exploring issues of consanguinity; and documenting exposures to toxins, diseases, or environmental agents during pregnancy.

Pedigree

In all types of genetic counseling, an important aspect of the counseling process is information gathering about family and medical history. Information gathering is performed by drawing a chart called a pedigree. A pedigree is made of symbols and lines that represent a family history. To accurately assess the risk of inherited diseases, information about three generations of the family, including health status and cause of death, is usually needed. If a family history is complicated, information from more distant relatives may be helpful, and medical records may be requested for any family members who have had a genetic disorder. Thorough examination of a family history may enable a counselor to calculate the probability of occurrence of genetic disorders in the future.

Ethnicity

In obtaining a family history, a genetic counselor asks about a person's ethnicity or ancestral origin. There are some ethnic groups that have a higher chance of being carriers of some genetic diseases or abnormalities. For instance, the chance that an African American is a carrier of a gene for sickle cell disease is one in 10. People of Jewish or central European ancestry are likely to be carriers of several conditions, including Tay-Sachs disease, Canavan's disease, and cystic fibrosis. People of Mediterranean ancestry are likely to be carriers of a type of anemia called thalassemia. Genetic counselors discuss inheritance patterns of these diseases, carrier risks, and genetic screening or testing options.

Consanguinity

Another question a genetic counselor asks in obtaining a family history is whether the couple are related to one another by blood. The practice of marrying or having children with relatives is infrequent in the United States, but is more common in some countries. When two people are related by blood, there is an increased chance for their children to be affected with conditions that are inherited in a recessive pattern. In recessive inheritance, each parent of a child affected with a disease carries a single gene for a disease. The child gets two copies, one from each parent, and is affected. People who have a common ancestor are more likely than unrelated people to be carriers of genes for the same recessively inherited disorders. Depending on family history and ethnic background, blood tests can be offered to couples to get more information about the chance of these conditions occurring.

Exposures during pregnancy

During prenatal genetic counseling, the counselor will ask about pregnancy history. If a woman has taken medications or has had exposure to a potentially harmful substance from the environment such as a chemical, toxin, or radiation, the genetic counselor can discuss the possibility of adverse effects. Ultrasound is often a useful tool to look for some effects of exposure.

Precautions

There are no physical precautions that are needed before genetic counseling. However, persons who will receive the results of genetic tests should be prepared mentally and emotionally for the possibility of unpleasant information. This includes discussing if they want to know the results of genetic testing and what choices they may have to make based on the information supplied.

Description

Types of genetic counseling

Genetic counselors work with people concerned about the risk of an inherited disease or condition. These people represent several different populations. Prenatal genetic counseling is provided to couples that have an increased risk of birth defects or inherited conditions, and are expecting a child or planning a pregnancy. Pediatric genetic counseling is provided to families with children suspected of having a genetic disorder or with children previously diagnosed with a genetic disorder. Adult genetic counseling is provided to adults with clinical features of an inherited disease or a family history of an inherited disease. Cancer genetic counseling is provided to those with a strong family history of certain types of cancer. Ethics are an important component of genetic counseling.

Prenatal genetic counseling

There are several different reasons a person or couple may seek prenatal genetic counseling. If a woman is age 35 or older and pregnant, there is an increased chance that her fetus may have a change in the number of chromosomes present. Changes in chromosome number may lead to mental retardation and birth defects. Down syndrome is the most common change in chromosome number that occurs proportionally more often in the fetuses of older women. Couples may seek prenatal genetic counseling because of abnormal results of screening tests performed during pregnancy. A blood test called the alpha fetal protein (AFP) test is offered to all pregnant women. This blood test screens for Down syndrome, open spine defects (spina bifida), and another type of mental retardation caused by a change in chromosome number called trisomy 18. When this test is abnormal, further tests are offered to get more information about the chance of these conditions actually occurring in the fetus. Another reason that people seek prenatal genetic counseling is a family history of birth defects or inherited diseases. In some cases, blood tests of the parents may be available to indicate if their children would be at risk of being affected. Genetic counselors assess risk in each case, help persons to understand their risks, and explore how they feel about or will cope with these risks.

Prenatal tests that are offered during genetic counseling include level II ultrasounds, maternal serum AFP screening, chorionic villus sampling (CVS), and amniocentesis. Level II ultrasound is a detailed ultrasound surveying fetal anatomy for birth defects. Ultrasound is limited to detection of structural changes in anatomy and cannot detect changes in chromosome number. The maternal serum AFP screening is used to indicate if a pregnant woman has a higher or lower chance of having a child with certain birth defects. This test can only provide information concerning the probability of a birth defect. The screening cannot diagnose an actual birth defect. CVS is a way of learning how many chromosomes are present in a fetus. A small piece of placental tissue is obtained for these studies during the tenth to twelfth weeks of pregnancy. Amniocentesis is also a way of learning how many chromosomes are present in a fetus. Amniotic fluid is obtained for these studies, usually between 15 and 20 weeks of pregnancy. There is a small risk of miscarriage associated with both of these tests. Genetic counseling regarding these procedures involves the careful explanation of benefits and limitations of each testing option. A genetic counselor also tries to explore how persons feel about prenatal testing and the impact of such testing on the pregnancy. Genetic counselors are supportive of any decision a person makes about whether or not to have prenatal tests performed.

Pediatric genetic counseling

Families or pediatricians seek genetic counseling when a child has features of an inherited condition. Any child who is born with more than one birth defect, mental retardation, or dysmorphic features has an increased chance of having a genetic syndrome. A common type of mental retardation in males for which genetic testing is available is fragile X syndrome. Genetic testing is also available for many other childhood illnesses such as hemophilia and muscular dystrophy. Genetic counselors work with medical geneticists to determine if a genetic syndrome is present. This process includes a careful examination of family history, medical history of the child, review of pertinent medical records in the family, a physical examination of the child, and sometimes blood work or other diagnostic tests. If a diagnosis is made, then a medical geneticist and genetic counselor review what is known about the inheritance of the condition, the natural history of the condition, treatment options, further examinations that may be needed for health problems common in the diagnosed syndrome, and resources for helping the family. The genetic counselor also helps the family adjust to the diagnosis by providing emotional support and counseling. Many families are devastated by receiving a diagnosis, learning of the likely outcome for the child and by the loss of the hoped for healthy child. There would also be a discussion about recurrence risks in the family and who else in the family may be at risk.

Adult genetic counseling

Adults may seek genetic counseling when a person in the family decides to be tested for the presence of a known genetic condition, when an adult begins exhibiting symptoms of an inherited condition, or when there is a new diagnosis of someone with an adult-onset disorder in the family. In addition, the birth of a child with obvious features of a genetic disease leads to diagnosis of a parent who is more mildly affected. Genetic counseling for adults may lead to the consideration of presymptomatic genetic testing. Testing a person to determine the likelihood for a condition existing before any symptoms occur is an area of controversy. Huntington's disease is an example of a genetic disease for which presymptomatic testing is available. This is a neurological disease resulting in dementia. Onset of the condition is between 30 and 50 years of age. Huntington's disease is inherited in an autosomal dominant pattern. If a person has a parent with the disease, the risk of being affected is 50%. Would presymptomatic testing relieve or create anxiety? Would a person benefit from removal of doubt about being affected? Would knowing about the condition help a person with life planning? Genetic counselors help people sort through their feelings about such testing and whether or not the results would be helpful to them.

Cancer genetic counseling

A family history of early onset breast, ovarian, or colon cancer in multiple generations of a family is a common reason a person would seek a genetic counselor who works with people who have cancer. While most cancer is not inherited, there are some families in which a dominant gene is present and causing the disease. A genetic counselor is able to discuss the chances that the cancer in the family is related to a dominantly inherited gene. The counselor can also discuss the option of testing for the breast and ovarian cancer genes, BRCA1 and BRCA2. In some cases the persons seeking testing have already had cancer but others have not. Therefore, presymptomatic testing is also an issue in cancer genetics. Emotional support is important for these people, as they have often lost close relatives from cancer and are fearful of their own risks. For families in which a dominant form of cancer is detected through genetic testing, a plan can be made for increased surveillance of disease symptoms.

Ethical issues in genetic counseling

Prenatal diagnosis of anomalies or chromosomal abnormalities may lead to a decision about whether or not a couple wishes to continue a pregnancy. Some couples choose to continue a pregnancy. Prenatal diagnosis gives them additional time to emotionally prepare for the birth of the child and to gather resources. Others choose not to continue a pregnancy in which problems have been diagnosed. These couples have unique emotional needs. Often the child is a very much desired addition to the family, and parents are devastated that the child is not healthy. Presymptomatic testing for adult-onset disorders and cancer raises difficult issues regarding the need to know and the reality of dealing with abnormal results before symptoms occur. The National Society of Genetic Counselors has created a Code of Ethics to guide genetic counselors in caring for people. The Code of Ethics consists of four ethical principles:

• Beneficience is the promotion of personal well-being in others. The genetic counselor is an advocate for the person being counseled.
• Non-maleficience is the concept of doing no harm to a person.
• Autonomy is recognizing the value of an individual, the person's abilities and point of view. Important aspects of autonomy are truthfulness with persons, respecting confidentiality, and practicing informed consent.
• Justice is providing equal care for all, freedom of choice, and providing a high quality of care.

The main ethical principle of genetic counseling is the attempt to provide nondirective counseling. This principle again points to an individual-centered approach to care by focusing on the thoughts and feelings of each person. Five percent of the Human Genome Project budget is designated for research involving the best way to deal with ethical issues that arise as new genetic tests become available. Genetic counselors can help people navigate through the unfamiliar territory of genetic testing.

Preparation

Persons should be apprised of possible outcomes and given the opportunity to discuss their feelings prior to undergoing genetic tests. There is a burden associated with knowing the probability of a future outcome. Difficult decisions may be required as a result of learning genetic information through testing. The process of adequately preparing an individual for genetic counseling is called informed consent. Ethical genetic counselors always obtain informed consent prior to undertaking any genetic tests.

Aftercare

Persons must be provided access to competent counselors and therapists. Such professionals can assist in processing the feelings and reactions that may emerge as a result of receiving the findings of genetic tests.

Complications

The complications that arise from the process of genetic counseling are most commonly mental and emotional. Individuals and couples who have received genetic counseling often experience mental changes such as depression and anguish when they receive unfavorable results about tests. Complications include the need to make difficult decisions regarding themselves, their families, or their unborn children. This is also referred to as a burden of knowing, meaning that likely but unwanted outcomes may become known before they occur. Depending on the condition, personal preferences and situation, persons may elect to continue with a pregnancy that is likely to result in a child with one or more abnormalities, terminate a pregnancy, select a different partner, or decide not to have children. These are all difficult situations that may require the assistance and intervention of a trained mental health counselor or therapist.

Results

The results given to a person during genetic counseling are highly individualized and depend on the nature of tests being performed and the issues of importance to the person being counseled.

The results of the process of genetic counseling vary. Genetic counseling offers information to people, thereby allowing them to make informed choices. Some of the options may not be easy or pleasant to contemplate. However, they are based on hard data rather than on wishes, hopes, or some other non-scientific basis. Genetic counselors have an ethical duty to obtain informed consent from individuals prior to beginning genetic counseling, provide unbiased information and the ability to interact in a non-judgmental or coercive manner.

KEY TERMS

Canavan disease— A serious genetic disease more common among the Eastern European Jewish population that causes mental retardation and early death. Canavan disease is caused by the lack of an enzyme called aspartoacylase.

Cystic fibrosis— A respiratory disease characterized by chronic lung disease, pancreatic insufficiency, and an average age of survival of 29 years. Cystic fibrosis is caused by mutations in a gene on chromosome seven that encode a transmembrane receptor.

Dysmorphic feature— A subtle change in appearance such as low set ears or a flattened nasal bridge that suggests a genetic syndrome may be present.

Fragile X syndrome— The most common inherited cause of mental retardation in males. People with Fragile X syndrome often have large ears, a long face, hyperextensible finger joints, hyperactivity or autism. Fragile X syndrome is caused by an expansion in a gene on the X chromosome. Some females are also affected.

Human Genome Project— An international collaborative project among scientists to map the genetic sequence of all the chromosomes. This project is funded by the National Institute of Health in the United States.

Informed consent— Provision of complete information to a competent individual regarding a treatment or test. Part of informed consent is to ensure a person's understanding of the advantages and disadvantages of a procedure and to obtain voluntary authorization to perform the procedure.

Sickle-cell anemia— A chronic, inherited blood disorder characterized by crescent-shaped red blood cells. It occurs primarily in people of African descent, and produces symptoms including episodic pain in the joints, fever, leg ulcers, and jaundice.

Tay-Sachs disease— A genetic disease affecting young children of eastern European Jewish descent. This disease is caused by the lack of an enzyme called hexosaminidase A. This deficiency results in mental retardation, convulsions, blindness and, finally, death.

Thalassemia— An inherited group of anemias occurring primarily among people of Mediterranean descent. It is caused by abnormal formation of part of the hemoglobin molecule.

Health care team roles

Genetic counselors are specially trained members of a health care team who have a master's degree in genetic counseling. They receive referrals from obstetricians, pediatricians, family physicians, and other doctors. They interpret the results of tests from laboratory personnel, medical geneticists, and pathologists. They refer people to therapists and counselors for assistance in resolving issues that arise from the process of genetic counseling.

Resources

BOOKS

Beaudet, Arthur L. "Genetics and disease." In Harrison's Principles of Internal Medicine, 14th ed., edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1998, 365-395.

Eanet, Karen, and Julia B. Rauch. Genetics and Genetic Services: A Child Welfare Worker's Guide. Washington, DC: Child Welfare League of America, 2000.

Hollingsworth, Alan B. The Truth About Breast Cancer Risk Assessment. Aurora, CO: National Writers Press, 2000.

Kessler, Seymour, and Robert G. Resta. Psyche and Helix: Psychological Aspects of Genetic Counseling. New York: Wiley, 2000.

Meager, Anthony. Gene Therapy Technologies, Applications and Regulations: From Laboratory to Clinic. New York: Wiley, 1999.

Needleman, Robert D. "Fetal growth and development." In Nelson Textbook of Pediatrics, 16th ed. edited by Richard E. Behrman et al., Philadelphia: Saunders, 2000, 27-30.

Seashore, Margretta R. "Genetic counseling." In Cecil Textbook of Medicine, 21st ed. edited by Goldman, Lee and Bennett, J. Claude. Philadelphia: W.B. Saunders, 2000, 439-442.

Weil, Jon. Psychosocial Genetic Counseling. New York: Oxford University Press, 2000.

PERIODICALS

Brooks, S.S. "Genetic counseling in the neuronal ceroid lipofuscinoses." Advances in Genetics 45 (2001): 159-167.

Brunger, J.W., Matthews, A.L., Smith, R.H., Robin, N.H. "Genetic testing and genetic counseling for deafness: the future is here." Laryngoscope 111, no. 4 Pt 1 (2001): 715-718.

Ciske, D.J., Haavisto, A., Laxova, A., Rock, L.Z., Farrell, P.M. "Genetic counseling and neonatal screening for cystic fibrosis: an assessment of the communication process." Pediatrics 107, no. 4 (2001):699-705.

Edwards, R.T. "Steering a course around the genetic iceberg." Journal of Public Health Medicine 23, no. 1 (2001): 3-4.

Ralston, S.J., Wertz, D., Chelmow, D., Craigo, S.D., Bianchi, D.W. "Pregnancy outcomes after prenatal diagnosis of aneuploidy." Obstetrics and Gynecology 97, no. 5 Pt 1 (2001): 729-733.

Welkenhuysen, M., Evers-Kiebooms, G., d'Ydewalle, G. "The language of uncertainty in genetic risk communication: framing and verbal versus numerical information." Patient and Educational Counseling 43, no. 2 (2001): 179-187.

ORGANIZATIONS

American Board of Genetic Counseling. 9650 Rockville Pike, Bethesda, MD 20814-3998. (301) 571-1825. Fax: (301) 571-1895. 〈http://www.faseb.org/genetics/abgc/abgcmenu.htm〉.

American Infertility Association. 666 Fifth Avenue, Suite 278, New York, NY 10103. (718) 621-5083. 〈http://www.americaninfertility.org〉. [email protected].

American Public Health Association. 800 I Street, NW, Washington, DC 20001-3710. (202) 777-2742. Fax: (202) 777-2534. 〈http://www.apha.org〉. [email protected].

American Society for Reproductive Medicine. 1209 Montgomery Highway, Birmingham, AL 35216-2809. (205) 978-5000. 〈http://www.asrm.com〉.

OTHER

American College of Physicians. 〈http://www.acponline.org/journals/news/feb95/gencoun.htm〉.

March of Dimes. 〈http://www.modimes.org/HealthLibrary2/faq/Genetic_Counseling.htm〉.

National Human Genome Research Institute. 〈http://www.nhgri.nih.gov/DIR/VIP/Glossary/pub_glossary.cgi/pub_glossary.cgi?key1/4genetic%20counseling&view_value_pair1/4on〉.

National Library of Medicine. 〈http://www.nlm.nih.gov/medlineplus/genetictestingcounseling.html〉.

National Society of Genetic Counselors. 〈http://www.nsgc.org〉.

Rush University School of Medicine. 〈http://www.rush.edu/worldbook/articles/007000a/007000027.html〉.

University of Kansas Medical Center. 〈http://www.kumc.edu/gec/prof/gc.html〉.

World Medical Association. 〈http://www.wma.net/e/policy/17-s_e.html〉.

Genetic Counseling

Definition

Genetic counseling aims to facilitate the exchange of information regarding a person's genetic legacy. It attempts to:

• accurately diagnose a disorder
• assess the risk of recurrence in the concerned family members and their relatives
• provide alternatives for decision-making
• provide support groups that will help family members cope with the recurrence of a disorder.

Purpose

Genetic counselors work with people concerned about the risk of an inherited disease. The counselor does not prevent the incidence of a disease in a family, but can help family members assess the risk for certain hereditary diseases and offer guidance. Many couples seek genetic counseling because there is a family history of known genetic disorders, infertility, miscarriage, still births, or early infant mortality. Other reasons for participating in genetic counseling may be the influences of a job or lifestyle that exposes a potential parent to health risks such as radiation, chemicals, or drugs. Any family history of mental retardation can be of concern as is a strong family history of heart disease at an early age. Recent statistics show a 3% chance of delivering a baby with birth defects. An additional 2% chance of having a baby with Down syndrome is present for women in their late thirties and older.

Genetic counseling may take on new emphasis in the near future as genetic research continues to advance. In April 2003, the Human Genome Project announced completion of mapping the entire human genetic makeup. The project identified more than 1,400 disease genes and completed study of the ethical, legal, and social issues raised by this expanded knowledge of human genetics. As knowledge expands and scientists discover more methods to identify and treat various diseases, people will face more difficult decisions about their own genetic information.

Precautions

Amniocentesis, one of the specific tests used to gather information for genetic counseling, is best performed between weeks 15 and 17 of a pregnancy and an additional one to four weeks may be required to culture skin cells and analyze them. Thus, these test data are not available to assist prospective parents in decision-making until the second trimester of the pregnancy. Individuals who participate in genetic counseling and associated testing also must be aware that there are no cures or treatments for some of the disorders that may be identified.

Description

With approximately 2,000 genes identified and approximately 5,000 disorders caused by genetic defects, genetic counseling is important in the medical discipline of obstetrics. Genetic counselors, educated in the medical and the psychosocial aspects of genetic diseases, convey complex information to help people make life decisions. There are limitations to the power of genetic counseling, though, since many of the diseases that have been shown to have a genetic basis currently offer no cure (for example, Down syndrome or Huntington's disease). Although a genetic counselor cannot predict the future unequivocally, he or she can discuss the occurrence of a disease in terms of probability.

Genetic counseling also can help people with diseases they may face in their own lifetimes. A 2003 study in Great Britain found that women with a family history of breast cancer were less worried about getting the disease if they had genetic counseling.

A genetic counselor, with the aid of the patient or family, creates a detailed family pedigree that includes the incidence of disease in first-degree (parents, siblings, and children) and second-degree (aunts, uncles, and grandparents) relatives. Before or after this pedigree is completed, certain genetic tests are performed using DNA analysis, x ray, ultrasound, urine analysis, skin biopsy, and physical evaluation. For a pregnant woman, prenatal diagnosis can be made using amniocentesis or chorionic villus sampling.

Family pedigree

An important aspect of the genetic counseling session is the compilation of a family pedigree or medical history. To accurately assess the risk of inherited diseases, information on three generations, including health status and/or cause of death, usually is needed. If the family history is complicated, information from more distant relatives may be helpful, and medical records may be requested for any family members who have had a genetic disorder. Through an examination of the family history a counselor may be able to discuss the probability of future occurrence of genetic disorders. In all cases, the counselor provides information in a non-directive way that leaves the decision-making up to the client.

Family history questionnaire

As more detailed genetic information becomes available, physicians and genetic counselors may feel the need to dig more deeply than a family pedigree allows. In 2004, physicians attending an American College of Medical Genetics meeting announced use of a structured questionnaire with 50 items to consistent, thorough gather family history data. Although the questionnaire's format and terminology were confusing to some patients, once a formula was applied to the answers, it still helped reviewers agree on a counseling plan 79% of the time.

Screening tests

Screening blood tests help identify individuals who carry genes for recessive genetic disorders. Screening tests usually are only done if:

• The disease is lethal or causes severe handicaps or disabilities.
• The person is likely to be a carrier due to family pedigree or membership in an at-risk ethnic, geographic or racial group.
• The disorder can be treated or reproductive options exist.
• A reliable test is available.

Genetic disorders such as Tay-Sachs disease, sickle-cell anemia, and thalassemia meet these criteria, and screening tests are commonly done to identify carriers of these diseases. In addition, screening tests may be done for individuals with family histories of Huntington's disease (a degenerative neurological disease) or hemophilia (a bleeding disorder). Such screening tests can eliminate the need for more invasive tests during a pregnancy.

Another screening test commonly used in the United States in the alpha-fetoprotein (AFP) test. This test is done on a sample of maternal blood around week 16 of a pregnancy. An elevation in the serum AFP level indicates that the fetus may have certain birth defects such as neural tube defects (including spina bifida and anencephaly). If the test yields an elevated result, it may be run again after seven days. If the level still is elevated after repeat testing, additional diagnostic tests (e.g. ultrasound and/or amniocentesis) are done in an attempt to identify the specific birth defect present.

Ultrasound

Ultrasound is a noninvasive procedure that uses sound waves to produce a reflected image of the fetus upon a screen. It is used to determine the age and position of the fetus, and the location of the placenta. Ultrasound also is useful in detecting visible birth defects such as spina bifida (a defect in the development of the vertebrae of the spinal column and/or the spinal cord). It also is useful for detecting heart defects, and malformations of the head, face, body, and limbs. This procedure, however, cannot detect biochemical or chromosomal alterations in the fetus.

Amniocentesis

Amniocentesis is useful in determining genetic and developmental disorders not detectable by ultrasound. This procedure involves the insertion of a needle through the abdomen and into the uterus of a pregnant woman. A sample of amniotic fluid is withdrawn containing skin cells that have been shed by the fetus. The sample is sent to a laboratory where fetal cells contained in the fluid are isolated and grown in order to provide enough genetic material for testing. This takes about seven to 14 days. The material then is extracted and treated so that visual examination for defects can be made. For some disorders, like Tay-Sachs disease, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis.

While it has been routine in recent years to suggest amniocentesis to every pregnant woman age 35 and older to screen for Down syndrome, evidence in 2003 began suggesting that it made more sense and was safer to offer blood test screening. The "triple screen" blood test can identify about three-fourths of Down syndrome cases by measuring certain chemicals in the mother's blood.

Chorionic villus sampling

Chorionic villus sampling involves the removal of a small amount of tissue directly from the chorionic villi (minute vascular projections of the fetal chorion that combine with maternal uterine tissue to form the placenta). In the laboratory, the chromosomes of the fetal cells are analyzed for number and type. Extra chromosomes, such as are present in Down syndrome, can be identified. Additional laboratory tests can be performed to look for specific disorders and the results usually are available within a week after the sample is taken. The primary benefit of this procedure is that it is usually performed between weeks 10 and 12 of a pregnancy, allowing earlier detection of fetal disorders. A 2003 study reported that this test resulted in fewer cases of pregnancy loss, amniotic fluid leakage, or birth defects than early amniocentesis.

Preparation

Genetic diagnosis requires that a couple share information about inherited disorders in their background with the genetic counselor, including details of any genetic diseases in either family. A couple undergoing genetic counseling also reports any past miscarriages and discusses the possibility of exposure to chemicals, radiation (including x rays), or other occupational environmental hazards. The couple also needs to disclose information about personal habits before or during pregnancy such as drug or alcohol abuse and the use of prescription or over-the-counter drugs taken by the mother since the beginning of pregnancy. The genetic counselor explains the procedures used in testing that will be done and describes what each test can and cannot reveal.

Aftercare

Genetic counseling provides couples with information that can help them make decisions about future pregnancies. It also gives couples additional time to emotionally prepare if a disorder is detected in the fetus. The counselor discusses the results of testing and informs the couple if a problem is apparent. The doctor or genetic counselor also discusses the treatment options available. Genetic counseling is done in a non-directive way, so that any treatment selected remains the personal choice of the individuals involved. Genetic counseling can provide information essential for family planning and pregnancy management, thus maximizing the chances of a positive outcome.

Risks

Because prenatal testing, such as amniocentesis and chorionic villus sampling, is invasive and carries a 1% risk of miscarriage it should never be considered routine.

Normal results

Screening tests and/or prenatal tests reveal no birth defects or genetic abnormalities.

Abnormal results

A birth defect or genetic disorder is detected. The early diagnosis of birth defects and genetic disorders allows a greater number of treatment options. Some disorders can be treated in utero (before birth while the fetus is still in the uterus), while others may require early delivery, immediate surgery, or cesarean section to minimize fetal trauma. Prior warning of fetal difficulties allows parents time to prepare emotionally for the birth of the child. In some instances, termination of the pregnancy may be chosen. Whatever the test results, this information is essential for family planning and pregnancy management.

Resources

PERIODICALS

"Best Early Test." Fit Pregnancy (October-November, 2003): 37.

"Blood Test Screening Reduces Need for Amniocentesis." Womenós Health Weekly (December 4, 2003): 51.

Bodenhorn, Nancy, and Gerald Lawson. "Genetic Counseling: Implications for Community Counselors." Journal of Counseling and Development (Fall 2003): 497-495.

"Genetic Counseling Questionnaire Helps Assess FamilyÆs Genetic History." Internal Medicine News (April 15, 2004): 45.

"Genetic Counseling Reduces WomenÆs Fears." Womenós Health Weekly (September 11, 2003): 23.

Wechsler, Jill. "From Genome Exploration to Drug Development." Pharmaceutical Technology Europe (June 2003): 18-23.

ORGANIZATIONS

American Medical Association. 515 N. State St., Chicago, IL 60612. (312) 464-5000. 〈http://www.amaassn.org〉.

American Society of Human Genetics. 9650 Rockville Pike, Bethesda, MD 20814-3998. (301) 571-1825. 〈http://www.faseb.org/genetics/ashg/ashgmenu.htm〉.

March of Dimes Birth Defects Foundation. 1275 Mamaroneck Ave., White Plains, NY 10605. (914) 428-7100. [email protected]. 〈http://www.modimes.org〉.

KEY TERMS

Sickle-cell anemia— A chronic, inherited blood disorder characterized by crescent-shaped red blood cells. It occurs primarily in people of African descent, and produces symptoms including episodic pain in the joints, fever, leg ulcers, and jaundice.

Tay-Sachs disease— A hereditary disease affecting young children of eastern European Jewish descent. This disease is caused by an enzyme deficiency leading to the accumulation of gangliosides (galactose-containing cerebrosides) found in the surface membranes of nerve cells in the brain and nerve tissue. This deficiency results in mental retardation, convulsions, blindness, and, finally, death.

Thalassemia— An inherited group of anemias occurring primarily among people of Mediterranean descent. It is caused by defective formation of part of the hemoglobin molecule.

GENETIC COUNSELING

Genetic counseling is an educational service that aims to help people become informed and responsible consumers of genetic tests and to cope with the results. With nondirectiveness as a basic rule and autonomous decision making its goal, genetic counseling exemplifies a shift of the professional-client relationship from doctor knows best to patient decides best.

There is a widespread consensus in advanced scientific and technological societies that in order to guarantee a client's informed choice any genetic test, whether prenatal (by amniocentesis or chorion villus sampling) or adult (for example, for hereditary breast cancer), should be prepared for and followed by genetic counseling. Prior to testing, counselors determine a risk profile by examining a client's medical history and family tree for potential genetic risks. The risk profile determines an array of test options with their risks, potential results, and possible actions, all of which are discussed with the client. After genetic testing, a counselor explains the significance of the test result and reviews treatment options. For example, if a prenatal test result shows a fetal chromosomal aberration, the counselor describes the average development of the fetal population in which the unborn child is placed by its cytological anomaly and offers the possibility of terminating the pregnancy. Both before and after testing, the counselor emphasizes that any decision is the client's.

History

The first hereditary counseling clinics opened in Germany and Denmark in the 1930s, and in Britain and the United States in the 1940s. Their explicit goal was to improve the population gene pool by avoiding the birth of children probably affected by illnesses or handicaps. For geneticists of the time, all but a few sympathizing with eugenic ideas, giving marriage advice was an instrument for breeding a better society. After World War II, when Nazi Germany brought eugenics into public discredit, geneticists shifted their focus from public to individual prevention without losing track of its effects on the population's quality of health.

In order to differentiate individual decision making from state eugenic programs, the geneticist Sheldon Reed coined the term genetic counseling in 1947 (Reed 1947). Ahead of his time, Reed argued that clients should make their own decisions. Most of his colleagues, however, either told their clients what to do or assumed that, after having been enlightened about genetics, they would make the right choice. Before amniocentesis was introduced into prenatal care in the 1970s, there were not many options a geneticist could offer anyway: The counselor drew a pedigree and, on the basis of Mendel's laws and empirical data, established the recurrence risk for some disease in question. In cases where the risk was considered high, all the expert could do was advise clients to remain childless. Because people were not yet accustomed to consulting doctors about health problems that might, with some statistical probability, occur in the future, there was no great demand for this kind of expertise.

In 1975 the American Society of Human Genetics adopted a definition of genetic counseling that was purified of all traces of eugenics. The clients' informed decision superseded prevention as the primary goal of the procedure. Genetic counseling was redefined as a communication process (Ad-Hoc-Committee on Genetic Counseling 1975) with the aim of informing clients and leading them to a decision that would fit their goals and values. This definition was adopted internationally.

Genetic Counseling in the Early-Twenty-First Century

Demand changed dramatically when chromosomal tests of cells from amniotic fluid and the option of terminating pregnancy allowed geneticists to enter the field of prenatal care. By the end of the 1950s, researchers determined the normal number of human chromosomes and identified deviations such as Trisomie 21 (Down Syndrome). In the 1970s, amniocentesis was introduced into prenatal care and abortion laws liberalized in most Western countries.

Originally intended as special treatment for a defined fraction of pregnancies, namely those diagnosed as being at risk, within a few years the chromosomal checkup expanded into a routine procedure. As prenatal monitoring techniques such as ultrasound or maternal serum screening, designed to track down potential risks, became standard, increasing numbers of pregnant women were classified as at risk and in need of professional guidance. Thus the major and still increasing clientele of genetic counselors are pregnant women.

Apart from chromosomal checkups in prenatal care, genetic tests have only limited application in medical practice. Most of them test Mendelian hereditary diseases (such as cystic fibrosis or Huntington's chorea), which are relatively rare. In 1994 a test for familial breast cancer opened a new field of counseling activity: the offer to help people cope with test results that cast a shadow over their future. It is estimated that at most 5 to 10 percent of all breast cancer cases can be classified as hereditary. Those who possess a mutation in the BRCA-genes are told that they have a lifetime risk of about 80 percent of actually getting this particular cancer—though further research has provided evidence that these numbers are too high for a general penetrance estimate (Bregg 2002). As a result of human genome research, geneticists expect a growing number of such predictive genetic tests for widespread diseases such as different forms of cancer, coronary heart disease, or Alzheimer's disease.

Risk Communication as Social Technology

Genetic tests go beyond the scope of the traditional doctor-patient relationship because, strictly speaking, there is no medical indication for performing them. Most patients are eligible for testing because they are classified as being at risk. This means, for the most part, they are—and might remain—completely healthy. The test result does not provide a diagnosis in order to determine an appropriate treatment. Instead a positive gene test will leave them with bad news about their future without offering any cure. In the case of a prenatal test, the patient is not yet born, and the only therapy would be an abortion. Predictive tests, such as those for familial breast cancer, result in risk figures for a tomorrow that might never occur.

This heterogeneity between a medical diagnosis and the attribution of a risk profile is generally overlooked. Statistical probabilities express nothing but frequencies in statistical populations. But in the counseling session these numbers jell into risks and chances, indicating to clients a threat to them or to a coming child. Clients expect the counselor to say something relevant about them as individuals, while, by definition, risk measures the frequency with which something happens in the statistical universe from which the sample has been taken.

Because genetic counseling educates clients regarding genetically derived risk figures, it serves as a powerful social technology that individualizes social hazards. Members of various disability communities have criticized such testing as a way to extend prejudices toward those who have only some risk of becoming disabled rather than promoting compassion and social inclusion for those with special needs. Appealing to clients to make autonomous decisions, the counselor invites them to take responsibility for a future that can be statistically assessed but is as yet unknown, so that genetic counseling opens up a completely new possibility for victim blaming: No matter what a client decides, the client becomes responsible.

Professionalization and Ethics

Anticipating the evolving demand for professional guidance provoked by prenatal testing, a two-year masters program was started at Sarah Lawrence College in New York in 1969 to train genetic counselors as collaborators of medical geneticists in hospitals and clinics. Since then, genetic counseling as a profession has grown widely throughout North America and is largely populated by women. In 1979 the National Society of Genetic Counselors (NSGC) was founded. In 1992 NSGC launched its own journal (Journal of Genetic Counseling) and adopted a code of ethics (National Society of Genetic Counselors 1992). Genetic counselors have been certified by the American Board of Genetic Counseling since 1993.

In most European countries, genetic counseling is not yet fully professionalized. With the expansion of prenatal testing and, gradually, predictive genetic testing, countries such as the United Kingdom, Norway, and the Netherlands have followed the U.S. model and introduced masters programs for genetic counselors who are not medical doctors. In France and Germany, however, doctors blocked inroads into what they consider their own field of competence. In these countries, medical geneticists usually deal with special cases and predictive testing whereas prenatal diagnostics is left to obstetricians (Godard, Kääriäinen, Kristoffersson et al. 2003).

Genetic counselors insist on nondirectiveness as their basic principle. Originally a psychotherapy precept (Rogers 1951), nondirectiveness has become the cornerstone of a counseling concept that is based on patient autonomy. However there is no consensus about what this actually means in practice. The context and the conception of the encounter between genetic counselor and patient gives rise to different social and ethical conflicts, and so does the nature of the imparted information (Clarke 1994).

In general, an expert's information can cause misunderstandings fraught with consequences for the client. Technical terminology almost inevitably clashes with colloquial language. A term such as syndrome can evoke horrifying associations and, as a consequence, clients might expect a child to look monstrous (Chapple, Champion, and May 1997). In order to enable clients to make an informed choice, they are told about test options and their respective risks and benefits. In the case of prenatal testing, women are asked to weigh the probability of detecting a fetal chromosomal or genetic abnormality against the risk of inducing a miscarriage which is about 0.5 percent in case of amniocentesis and at least 1 percent in case of Chorion Villus Sampling. Nevertheless, those interventions are offered as a routine part of prenatal care regardless of women's age and family history, which means that on the long run there are more pregnancies lost than abnormalities detected. Scientific denotation and everyday connotations diverge grossly on the subject of risk figures. Clients inevitably personalize the numbers; they fail to grasp the statistical nature of probabilities and interpret them as personal threats (Rapp 1999, Samerski 2002). This gap between professional information and lay understanding widens with clients from different ethnic backgrounds (Rapp 1999, Browner et al. 2003).

According to their notion of autonomy, genetic counselors are bound to respect both the right to know and the right not to know. The right to be informed is generally taken for granted because knowing about probabilities, test options, and test results facilitates autonomous decision making. But genetic information may also profoundly change the client's perceptions and lifestyle, and therefore genetic counselors respect confidentiality and the right not to know, especially in cases of late-onset diseases (for example, Huntington's chorea) when there is no third party involved. In prenatal diagnostics, test results can only serve to provide grounds for terminating the pregnancy. Even though the moral status of abortion is controversial in most countries, it is generally legalized and socially accepted as pertaining to reproductive autonomy. The decision to abort or not after positive test results is the client's, even though the counselor's judgment might differ considerably. Yet, the options of testing and aborting put new pressures on women: Abnormal children are considered to be avoidable. A new sense of responsibility for the existence of a disabled child after having been offered a choice, fear of stigmatization, and the intimidating effect of professional diagnosis cause most women to terminate their pregnancies in case of abnormal test results. Out of respect for patient autonomy a growing number of genetic counselors would even recognize prenatal sex selection as an acceptable option (Wertz and Fletcher 1998). The call to limit prenatal selection to medically approved conditions is countered by members of the disability community who argue that just like the discrimination of women, "disability" is a social issue. The continuing efforts to track down a "gene for" homosexuality substantiate fears about a new, genetic discrimination of minorities (Schüklenk, Stein, Kerin, and Byne 1997).

There is a growing market of commercial laboratories promising to optimize health and well-being by genetic testing combined with "personalized" guidance on lifestyle, diet, and drugs. But consumer mentality is only one aspect of the seamy side of patient autonomy. The idea of informed choice seems to increase autonomy, but could force people to become managerial decision makers on their own behalf and on the behalf of their children. Genetic counseling burdens people with decisions on the basis of statistical probabilities, which makes them responsible for events they cannot control. Wrongful life actions, in which parents argue that the birth of their affected child was an avoidable consequence of misinformation or bad advice, reinforce the idea that misfortune can be avoided by correct information and decision making.

SILJA SAMERSKI

SEE ALSO Fetal Research;Genethics;Homosexuality Debate;In Vitro Fertilization and Genetic Screening;Playing God.

BIBLIOGRAPHY

Ad-Hoc-Committee on Genetic Counseling. (1975). "Genetic Counseling." American Journal of Human Genetics 27(2): 240–242. First internationally acknowledged definition of genetic counseling.

Bregg, Colin B. (2002). "On the Use of Familial Aggregation in Population-Based Case Probands for Calculating Penetrance." Journal of the National Cancer Institute 94: 1221–1226. Critically reviews the early estimates of the lifetime risk of breast cancer associated with BRCA1 and BRCA2 mutations.

Browner, Carole H.; Mabel H. Preloran; Maria Christina Casado; et al. (2003). "Genetic Counseling Gone Awry: Miscommunication between Prenatal Genetic Service Providers and Mexican-origin Clients." Social Science and Medicine 56: 1933–1946. Empirical study on misunderstandings by clients due to medical terminology, and nondirectiveness, among other factors.

Chapple, Alison; Peter Champion; and Carl May. (1997). "Clinical Terminology: Anxiety and Confusion Amongst Families Undergoing Genetic Counseling." Patient Education and Counseling 32(1–2): 81–91. Empirical study that explores clients' understanding of medical terminology, especially the fears and associations evoked by the term syndrome.

Clarke, Angus, ed. (1994). Genetic Counseling: Practices and Principles. London, New York: Routledge. Anthology of historical, social, and ethical aspects of genetic counseling, including its eugenic predecessors and the problem of confidentiality.

Godard, Béatrice; Kääriäinen, Helena; Kristoffersson, Ulf; et al. (2003). "Provision of Genetic Services in Europe: Current Practices and Issues." European Journal of Human Genetics 11(Suppl. 2): S13–S48. Examines the professional and scientific views on the social, ethical and legal issues that impact on the provision of genetic services in Europe.

National Society of Genetic Counselors. (1992). "National Society of Genetic Counselors Code of Ethics." Journal of Genetic Counseling 1(1): 41–43.

Rapp, Rayna. (1999). Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America. New York: Routledge. Study based on a decade of fieldwork on prenatal diagnostics and genetic counseling and interviews with professionals and clients.

Reed, Sheldon. (1974). "A Short History of Genetic Counseling." Social Biology 21(4): 332–339. Reed looks back after twenty-seven years and describes the historical background and development of his counseling concept.

Rogers, Carl R. (1951). Client-centered Therapy. Boston: Houghton Mifflin. Discusses the concept of nondirectiveness and client-centered psychotherapy and the reconceptualization of genetic counseling as an aid to individual decision making.

Samerski, Silja. (2002). Die verrechnete Hoffnung: Von der selbstbestimmten Entscheidung durch genetische Beratung [The mathematization of hope: On autonomous decision-making through genetic counseling]. Münster, Germany: Westfälisches Dampfboot. Study based on participant observation and tape recordings of genetic counseling sessions in Germany. Analyzes how information about risk figures and test options and the demand to choose transforms pregnant women into managerial decision makers.

Schüklenk, Udo; Stein, Edward; Kerin, Jacinta; and Byne William. (1997). "The Ethics of Genetic Research on Sexual Orientation." Hastings Center Report 27 (4): 6–13.

Wertz, Dorothy C., and John C. Fletcher. (1998). "Ethical and Social Issues in Prenatal Sex Selection: A Survey of Geneticists in 37 Nations." Social Science and Medicine 46(2): 255. Discusses the trend towards prenatal sex selection.

Genetic counseling

Definition

Genetic counseling is a communication process by which personal genetic risk information is translated into practical information for families. Genetic counselors are health care professionals with specialized training and experience in the areas of medical genetics and counseling. Genetic counselors are able to assist families by:

• Helping families understand information about birth defects or genetic disorders . This includes explaining patterns of inheritance , recurrence risks, natural history of diseases, and genetic testing options.
• Providing nondirective supportive counseling regarding emotional issues related to a diagnosis or testing options.
• Helping individuals or families make decisions that they are comfortable with based on their personal ethical and religious standards.
• Connecting families with appropriate resources, such as support groups or specific types of medical clinics, locally and nationally.

Types of genetic counseling

Genetic counselors work with people concerned about the risk of an inherited disease. These patients represent several different patient populations. Prenatal genetic counseling is provided to couples that have an increased risk for birth defects or inherited conditions and are expecting a child or planning a pregnancy. Pediatric genetic counseling is provided to families with children suspected of having a genetic disorder or with children previously diagnosed with a genetic disorder. Adult genetic counseling is provided to adults with clinical features of an inherited disease or a family history of an inherited disease. Cancer genetic counseling is provided to those with a strong family history of certain types of cancer.

Prenatal genetic counseling

There are several different reasons a person or couple may seek prenatal genetic counseling. If a woman is age 35 or older and pregnant, there is an increased chance that the fetus may have a change in the number of chromosomes present. Changes in chromosome number may lead to mental retardation and birth defects. Down syndrome is the most common change in chromosome number that occurs more often in the fetuses of older women. Couples may seek prenatal genetic counseling because of abnormal results of screening tests performed during pregnancy. A blood test called the alpha fetal protein (AFP) test is offered to all pregnant women. This blood test screens for Down syndrome, open spine defects (spina bifida ) and another type of mental retardation caused by a change in chromosome number called Trisomy 18 . When this test is abnormal, further tests are offered to get more information about the chance of these conditions in the fetus. Another reason that people seek prenatal genetic counseling is a family history of birth defects or inherited diseases. In some cases, blood tests on the parents may be available to indicate if their children would be at risk of being affected. Genetic counselors assess risk in each case, help patients understand their risks and explore how patients feel about or cope with these risks.

Prenatal tests that are offered during genetic counseling include level II ultrasounds, maternal serum AFP screening, chorionic villus sampling (CVS), and amniocentesis . Level II ultrasound is a detailed ultrasound surveying fetal anatomy for birth defects. Ultrasound is limited to detection of structural changes in anatomy and cannot detect changes in chromosome number. The maternal serum AFP screening is used to indicate if a pregnant woman has a higher or lower chance of certain birth defects. This test can only change the chances for a birth defect. The screening cannot diagnose a birth defect. CVS is a way of learning how many chromosomes is present in a fetus. A small piece of placental tissue is obtained for these studies during the tenth to twelfth weeks of pregnancy. Amniocentesis is also a way of learning how many chromosomes are present in a fetus. Amniotic fluid is obtained for these studies, usually between 16 and 18 weeks of pregnancy. There is a small risk for miscarriage with both of these tests. Genetic counseling regarding these procedures involves the careful explanation of benefits and limitations of each testing option. The counselor also tries to explore how patients feel about prenatal testing and the impact of such testing on the pregnancy. Genetic counselors are supportive of any decision a patient makes about whether or not to have prenatal tests performed.

Pediatric genetic counseling

Families or pediatricians seek genetic counseling when a child has features of an inherited condition. Any child who is born with more than one birth defect, mental retardation, or dysmorphic features has an increased chance of having a genetic syndrome. A common type of mental retardation in males for which genetic testing is available is fragile X syndrome . Genetic testing is also available for many other childhood illnesses such as hemophilia and muscular dystrophy . Genetic counselors work with medical geneticists to determine if a genetic syndrome is present. This process includes a careful examination of family history, medical history of the child, review of pertinent medical records in the family, a physical examination of the child, and sometimes blood work or other diagnostic tests. If a diagnosis is made, then the medical geneticist and genetic counselor review what is known about the inheritance of the condition, the natural history of the condition, treatment options, further examinations that may be needed for health problems common in the diagnosed syndrome and resources for helping the family. The genetic counselor also helps the family adjust to the diagnosis by emotional support and counseling. Many families are devastated by receiving a diagnosis, learning of the likely outcome for the child, and by the loss of the hoped-for healthy child. There would also be a discussion about recurrence risks in the family and who else in the family may be at risk.

Adult genetic counseling

Adults seek genetic counseling when a person in the family decides to be tested for a known genetic

condition in the family, when an adult begins exhibiting symptoms of an inherited condition or when there is a new diagnosis of someone with an adult onset disorder in the family. In addition, sometimes the birth of a child with obvious features of a genetic disease leads to diagnosis of a parent who is affected more mildly. Genetic counseling for adults may lead to the consideration of presymptomatic genetic testing. Testing a person to determine if they will be symptomatic for a condition before the symptoms occur is an area of controversy. Huntington disease is an example of a genetic disease for which presymptomatic testing is available. Huntington disease is a neurological disease resulting in dementia . Onset of the condition is between 30 to 50 years of age. Huntington disease is inherited in an autosomal dominant pattern. If a person has a parent with the disease, their risk of being affected is 50%. Would presymptomatic testing relieve or create anxiety? Would a person benefit from removal of doubt about being affected? Would knowing help a person with life planning? Genetic counselors help patients sort through their feelings about such testing and whether or not the results would be helpful to them.

Cancer genetic counseling

A family history of early onset breast, ovarian, or colon cancer in multiple generations of a family is a common reason a person would seek a genetic counselor that works with cancer patients. While most cancer is not inherited, there are some families in which a dominant gene is present and causing the disease. The genetic counselor is able to discuss with a patient the chance that the cancer in the family is related to a dominantly inherited gene. The counselor can also discuss the option of testing for the breast and ovarian cancer genes, BRCA1 and BRCA2. In some cases the person seeking testing has already had cancer, and in others they have not. Therefore, presymptomatic testing is also an issue in cancer genetics. Emotional support is important for these patients as they have often lost close relatives from cancer and are fearful of their own risks. For families in which a dominant form of cancer is detected through genetic testing, a plan for increased surveillance for the disease can be made.

The pedigree

In all types of genetic counseling, an important aspect of the genetic counseling session is information gathering about family and medical history. Information gathering is performed by drawing a chart called a pedigree. A pedigree is made of symbols and lines that represent the family history. To accurately assess the risk of inherited diseases, information about three generations of the family, including health status and/or cause of death, is usually needed. If the family history is complicated, information from more distant relatives may be helpful, and medical records may be requested for any family members who have had a genetic disorder. Through an examination of the family history a counselor may be able to discuss the probability of future occurrence of genetic disorders.

Ethnicity

In taking a family history, a genetic counselor asks the patient's ethnicity or ancestral origin. There are some ethnic groups that have a higher chance of being carriers of some genetic diseases. For instance, the chance that an African American is a carrier of a gene for sickle cell disease is 1/10. People of Jewish ancestry are more likely to be carriers of several conditions including Tay-Sachs disease , Canavan disease and cystic fibrosis . People of Mediterranean ancestry are more likely to be carriers of a type of anemia called thalassemia . Genetic counselors discuss inheritance patterns of these diseases, carrier risks, and genetic screening or testing options.

Consangunity

Another question a genetic counselor asks in taking a family history is if the couple is related to one another by blood. The practice of marrying or having children with relatives is infrequent in the United States, but is more common in some countries. When two people are related by blood, there is an increased chance for their children to be affected with conditions inherited in a recessive pattern. In recessive inheritance, each parent of a child affected with a disease carries a single gene for the disease. The child gets two copies, one from each parent, and is affected. People who have a common ancestor are more likely than unrelated people to be carriers of genes for the same recessively inherited genes. Depending on family history and ethnic background, blood tests can be offered to couples to get more information about the chance for these conditions to occur.

Exposures during pregnancy

During prenatal genetic counseling, the counselor will ask about pregnancy history. If the patient has taken a medication or has had a harmful exposure (like radiation), the genetic counselor can discuss the possibility of harmful affects. Ultrasound is often a useful tool to look for some affects of exposures.

Ethical issues in genetic counseling

Prenatal diagnosis of anomalies or chromosomal abnormalities leads to a decision about whether or not a couple wishes to continue a pregnancy. Some couples chose to continue a pregnancy. Prenatal diagnosis gives them additional time to emotionally prepare for the birth of the child and to gather resources. Others choose not to continue a pregnancy in which problems have been diagnosed. These couples have unique emotional needs. Often the child is very much a desired addition to the family and parents are devastated that the child is not healthy. Presymptomatic testing for adult onset disorders and cancer raise difficult issues regarding the need to know and the reality of dealing with abnormal results before symptoms. The National Society of Genetic Counselors has created a Code of Ethics to guide genetic counselors in caring for patients. The Code of Ethics consists of four ethical principles:

• Beneficience is the promotion of personal well being in others. The genetic counselor is an advocate for the patient.
• Nonmaleficience is the idea of doing no harm to a patient.
• Autonomy is recognizing the value of the individual, the person's abilities and their point of view. Important aspects of autonomy are truthfulness with patients, respecting confidentiality, and practicing informed consent.
• Justice is providing equal care for all, freedom of choice, and providing a high quality of care.

Perhaps the main ethical principle of genetic counseling is the attempt to provide nondirective counseling. This principle again points to a patient centered approach to care by focusing on the thoughts and feelings of the patient. Five percent of the Human Genome Project budget is designated to research involving the best way to deal with ethical issues that arise as new genetic tests become available. Genetic counselors can help patients navigate through the unfamiliar territory of genetic testing.

Resources

BOOKS

Baker, Diane. A Guide to Genetic Counseling. New York: John Wiley and Sons, Inc., 1998.

Harper, Peter S. Practical Genetic Counseling. Oxford: Butterworth Heinmann, 1998.

ORGANIZATIONS

American Society of Human Genetics. 9650 Rockville Pike, Bethesda, MD 20814-3998. (301) 571-1825. <http://www.faseb.org/genetics/ashg/ashgmenu.htm>.

March of Dimes Birth Defects Foundation. 1275 Mamaroneck Ave., White Plains, NY 10605. (888) 663-4637. [email protected]. <http://www.modimes.org>.

National Society of Genetic Counselors. 233 Canterbury Dr., Wallingford, PA 19086-6617. (610) 872-1192. <http://www.nsgc.org/GeneticCounselingYou.asp>.

Sonja Rene Eubanks, MS, CGC