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.