4
Issues in Genetic Counseling

It was a long and complex process. Blood samples from numerous members of my family had to be collected and analyzed. I underwent several months of genetic counseling to determine my ability to cope with any possible outcome. After a period of months, nothing remained but the nerve-racking wait for the results.... Finally, the wait was over: my test was negative. The DNA analysis has shown with 96 percent certainty (later increased to 99 percent, with refinement of the testing process) that I had not inherited the gene for Huntington's disease. When I learned the results I cried and laughed. It took months for the news to sink in. I am still adjusting. ... The incomparable relief I felt at finally being free of the fear and uncertainty . . . was tempered by the painful knowledge that other family members had not been and would not be so lucky.

(Hayes, 1992)

It is but sorrow to be wise when wisdom profits not.

(Sophocles, Oedipus Rex)

Genetic testing raises a broad range of questions and issues for those considering testing and for those offering the test: How great are the risks of the test? How reliable is the test? What does this information mean for me, for my children, for my family, for future generations? What is the nature of the disorder? What is its severity? What options are available? How will we choose? What medical and support services will be needed? What resources are available? What does the future hold for health, longevity, quality of life? What does this informa-



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Assessing Genetic Risks: Implications for Health and Social Policy 4 Issues in Genetic Counseling It was a long and complex process. Blood samples from numerous members of my family had to be collected and analyzed. I underwent several months of genetic counseling to determine my ability to cope with any possible outcome. After a period of months, nothing remained but the nerve-racking wait for the results.... Finally, the wait was over: my test was negative. The DNA analysis has shown with 96 percent certainty (later increased to 99 percent, with refinement of the testing process) that I had not inherited the gene for Huntington's disease. When I learned the results I cried and laughed. It took months for the news to sink in. I am still adjusting. ... The incomparable relief I felt at finally being free of the fear and uncertainty . . . was tempered by the painful knowledge that other family members had not been and would not be so lucky. (Hayes, 1992) It is but sorrow to be wise when wisdom profits not. (Sophocles, Oedipus Rex) Genetic testing raises a broad range of questions and issues for those considering testing and for those offering the test: How great are the risks of the test? How reliable is the test? What does this information mean for me, for my children, for my family, for future generations? What is the nature of the disorder? What is its severity? What options are available? How will we choose? What medical and support services will be needed? What resources are available? What does the future hold for health, longevity, quality of life? What does this informa-

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Assessing Genetic Risks: Implications for Health and Social Policy tion mean for future insurability, employability, personal and social stigma, and discrimination? Along with their questions, people bring a wide variety of values and personal health beliefs about the central issues raised by genetic testing to the genetic testing and counseling experience. Genetic counseling is the context for helping people address such issues. The communication of information and the process of counseling cannot be done in a vacuum; they are relevant only as they apply to each particular client's concerns and needs. This chapter includes background information on the nature and basic components of genetic counseling in various settings (newborn screening, carrier detection, prenatal diagnosis, and screening for late-onset disorders). It also reviews critical issues facing genetic counseling today and for the future. Among these critical issues are nondirectiveness; informed consent; confidentiality; multiplex testing; recognizing social and cultural differences; and the need for a genetically literate public. Many people who undergo genetic testing receive "good news" and reassurance with their genetic test results. They may learn definitively, or with a high probability, that neither they nor their children have a specific genetic disease. Many other people also learn that they and their children do not carry the gene(s) for that disorder. However, even favorable news and reassurance may affect people's concepts of themselves and their families, and may lead to what is called "survivor guilt" and a sense of ostracism from affected members of the family (Quaid, 1992; Wexler, 1992). Other people who undergo genetic testing will be informed that a genetic disorder or genetic susceptibility has been identified in their fetus, their children, or themselves. Test results may be deeply troubling for those who receive a diagnosis of a genetic disorder or carrier status, raising fundamental questions of medical vulnerability, as well as personal and social image and identity. Individuals may perceive that they are "flawed," "imperfect," "defective,'' "inadequate," or "abnormal," or may have concerns that others will perceive them or their progeny in these terms (Kessler, 1979, 1981; Lipkin et al., 1986). The counselor acts as a resource in dealing with the sadness, loss, anger, guilt, or anxiety that genetic information can bring (Kessler et al., 1984). In educating and counseling about genetics, the counselor must convey the varying nature of genetic risk and our varying ability to predict such risks. Our ability to predict genetic risk varies with mode of inheritance, severity of disorders, and other essential factors, such as environmental and/or combinations of genetic factors, that must be present before genetic susceptibility will be expressed as disease. The prediction of genetic risk also depends on the sensitivity and specificity of the test itself and the quality of laboratory procedures (see Chapter 3). The immediacy of decision making is another key variable in genetic testing and counseling. The time pressure surrounding genetic testing varies by circum-

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Assessing Genetic Risks: Implications for Health and Social Policy stances and disorders. For treatable disorders such as phenylketonuria (PKU), early identification of the disorder in newborns is critical so that dietary modification can be started early enough to prevent severe mental retardation. For many late-onset disorders and for preconceptional reproductive planning, genetic testing and counseling may occur in adulthood when the information will be of practical use; in these instances, the process of deciding whether to be tested need not be rushed. In other circumstances, it will be necessary to have information from genetic tests much more quickly so that decisions can be made. Although carrier testing is optimally performed before pregnancy, the most time-urgent of such decisions often surround reproduction, especially in prenatal diagnosis where safety dictates only a limited time during pregnancy in which to decide whether to be tested and to make decisions about whether to terminate or to carry to term a pregnancy if a genetic disorder is identified in the fetus. There is tremendous variability in genetic counseling as provided today and envisioned for the future. As genetic testing expands with the growth of new genetic tests, genetic counseling and education will need to adapt to new modes and settings for the delivery of genetics services, without sacrificing quality. Health care providers will require an enhanced appreciation of the contribution of genetics to health, as well as an understanding of the complexities of genetic testing and decision making. This chapter reviews the basic tenets of genetic counseling as it has been defined and practiced in a variety of situations, and examines issues facing genetic counseling for the future. BASIC COMPONENTS OF GENETIC COUNSELING Genetic counseling is the process by which individuals and families come to learn and understand relevant aspects of genetics; it is also the process for obtaining assistance in clarifying options available for their decision making and coping with the significance of personal and family genetic knowledge in their lives. In 1975, the American Society of Human Genetics Ad Hoc Subcommittee on Genetic Counseling described genetic counseling (Epstein et al., 1975) as a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to (1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of recurrence; (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, and to act in accordance with that decision; and (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.

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Assessing Genetic Risks: Implications for Health and Social Policy Others have applied clinical psychology theory and practice to the field of genetic counseling; this concept has been developed in the writings of Seymour Kessler (1979, 1981; Kessler and Jacopini, 1982; Kessler et al., 1984). Unquestionably, there are both educational and psychological support components to all levels of genetic counseling. In the "classic" model of genetics services, genetic counseling is provided by a specialized team of professionals, including a clinical geneticist and genetic counselor, and is often provided in a genetics center (see Chapter 6 for discussion of personnel training and certification). The team might be much broader, particularly in specialty clinics where different disciplines are represented. For example, parents of children with cystic fibrosis (CF) often learn about recessive inheritance from pulmonologists, nurses, or social workers who provide care for their children in a CF clinic. Increasingly, however, genetics services are being provided by primary care providers, who are not necessarily trained in human genetics. Primary care practitioners are also less likely to endorse an important principle of classical genetic counseling—that is, autonomous patient decision making (e.g., Geller et al., 1993; Stange et al., 1993); however, this more directive tradition in medical care is changing toward more autonomous decision making by patients, due in part to legal decisions on informed consent and the right to die (see Chapter 8). The movement of genetics services into primary care is likely to increase as the number of genetic tests expands. Even if specialized genetics professionals are considered the best providers of genetic counseling services, there will simply be too few genetics professionals to meet the growing demand for services. However, traditional genetic counseling services, provided by specialized genetics professionals, are expected to remain a critical resource when test results reveal risks. Once genetic tests are judged to be "standard of care" for routine use, primary care practitioners are likely to be the ones to offer such testing and obtain informed consent. When risks are revealed, especially for nontreatable disorders including late-onset disorders and for those identified with carrier status, referral to specialized genetic counselors will usually be desirable because of the complexity of the issues in counseling for identified risk. Specialized genetics professionals will also increasingly need to train other personnel to provide genetic testing and counseling services as part of their professional activities. In many genetic counseling situations, a client must decide whether to seek diagnosis and, if so, must then decide how to use the information resulting from the test. To date, genetic testing and genetic counseling lead to few opportunities for curative treatment of genetic conditions (see Chapter 2); thus, the primary emphasis in genetic counseling has been on facilitating autonomous decision making about receiving information on conditions for which treatment may not exist. In a few conditions, accurate diagnosis can lead to medical interventions, such as newborn screening and follow-up treatment for PKU. For other condi-

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Assessing Genetic Risks: Implications for Health and Social Policy tions, carrier testing is available, permitting more options for reproductive planning, including avoiding conception. Prenatal diagnosis may provide reassurance as well as information for decisions on selective abortion if the fetus is determined to be at high risk for a diagnosable genetic disorder or in preparing for the birth of an affected child. Gene therapy has entered early clinical trials but is barely on the horizon for wide clinical use. This means that in many cases, the only intervention to be offered for a genetic disorder is communication about diagnosis, natural history, and information about available options, including a variety of reproductive options. In the absence of treatment, the psychological impact of this genetic information can be tremendous. Awareness of the Impediments to Effective Genetic Counseling Beyond the psychological consequences of receiving genetic testing information are the potential impacts on the family—not only the individual, but also the partner, parents, grandparents, siblings, and children of the individual being tested or screened. The diagnosis of a genetic condition or the results of a genetic test often have repercussions for future childbearing decisions as well, although this is only one of many components of genetic counseling. Social and psychological stress introduced by genetic diagnosis, as well as future financial and emotional burdens, can severely impact family functioning (Schild, 1979). The provider of genetics services needs to be sensitive to the concept of the "teachable moment," that is, the point(s) at which an individual, couple, or family is most able to comprehend and absorb the information being given. The genetic counselor may not have the opportunity to counsel clients at more advantageous teachable moments—after some of the early shock and denial that often accompany genetic diagnosis have abated. Limited contact with the genetic counselor may often result from restrictions on insurance reimbursement (see Chapter 7) and other administrative impediments, such as the practice of scheduling counseling on the day of testing. These and other factors may help explain why certain studies show limited retention and understanding of the genetic information conveyed during counseling interactions (e.g., Childs et al., 1976; Sorenson et al., 1981; Chase et al., 1986; Wertz et al., 1986; Kessler, 1989). Potentially, one benefit of having primary care practitioners provide genetic counseling will be more continuity of care, since continuity of care provides more opportunities over time for teachable moments. The psychological impact of a genetic diagnosis varies with its severity, treatability, and with the unique responses of different individuals and families (e.g., Kessler, 1979, 1980b; Kessler et al., 1984; Biesecker, 1992a; Wexler, 1992). Support, counseling, and follow-up can assist individuals and their families in coping with positive test results. The knowledge and skills of a properly trained counselor can help an individual understand the diagnosis, risk of recurrence, prognosis,

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Assessing Genetic Risks: Implications for Health and Social Policy and relevant preventive and therapeutic measures, and also aid in communicating important information to other family members. There is general agreement that certain issues raised by testing should be discussed before an individual decides to be tested. Education and counseling include providing information and supportive counseling to people considering testing about what they need to know to decide whether to be tested—risk status, the benefits and burdens of testing, the limitations of available testing methods, and the implications of the test results, including the psychosocial consequences of such testing. Education and counseling are particularly important for genetic screening procedures, such as prenatal diagnosis for advanced maternal age or carrier screening for CF of an individual with no previous family history of the disease (see Chapter 2). In probabilistic terms, such individuals have a high likelihood of receiving good news—that their fetus is unaffected or that they are not carriers. 1 If conducted properly prior to testing, the groundwork for follow-up counseling will have been laid should test results come back indicating that a genetic condition is present. Education and counseling following testing include interpretation of test results, discussion of the implications of that information, answering all questions (in a language and manner understandable to the person being counseled), providing supportive counseling, and offering information about community support groups and other follow-up resources. For some conditions, one visit might be sufficient to conduct posttest counseling, for example, after determination of TaySachs carrier status in a nonpregnant female. Other disorders might require several visits or, rarely, long-term supportive care may be needed. The variability of genetic disorders and of their impact demands flexibility in the delivery of services, both diagnostic and psychological. After genetic counseling, clients should have enough information at least to attempt to deal with the complex interaction among the risks and benefits of various courses of action and with their own values and personal choices (Quaid, 1992). Since genetic diagnosis can sometimes present more uncertainty than certainty, it is important to communicate both information and empathy, because information exchange may be taking place in an atmosphere that is filled with anxiety and unfamiliarity (Biesecker, 1992a). And while the content and nature of genetic counseling may vary, certain basic tenets will almost always apply: nondirectiveness, voluntariness, confidentiality, and respect for social and cultural differences. Nondirectiveness Carl Rogers, a clinical psychologist, coined the term nondirectiveness in 1942 to describe his psychotherapeutic approach of not advising, interpreting, or guiding his clients. Eventually, Rogers came to recognize that his very presence in a counseling relationship had directive components. By 1978, he had adopted the

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Assessing Genetic Risks: Implications for Health and Social Policy term person centered to describe his therapeutic approach, which is based on unconditional positive regard for the client as a self-actualizing person. The early eugenics movement in the United States espoused improvement in the inborn characteristics of the human species by applying the rules of heredity to human reproduction (President's Commission, 1983; Kevles, 1985; Duster, 1990). Concern about early abuses in the eugenics movement helped to make the principle of nondirectiveness, and the corollary of respect for client autonomy, key concepts of genetic counseling today. Nevertheless, the issue of nondirectiveness in genetic counseling has led to controversy and confusion (Kessler, 1992; Biesecker, 1992a). The desirability as well as the practicability of nondirectiveness in genetic counseling has been challenged (e.g., Clarke, 1991; Morrison and Nevin, 1991; Kessler, 1992). This controversy reflects an inherent tension in genetic counseling that arises from the complex functions of genetic counseling for different purposes in various settings. The continuum of genetic counseling includes, at a minimum, providing genetic information and education, as well as providing genetic counseling to explore the implications of the information; but it may also include providing specific medical advice for treatable conditions (e.g., Motulsky, 1989; Clarke, 1991; Harris and Hopkins, 1991; Pembrey, 1991; Super, 1991; Burke et al., 1993). Critics have challenged the ability of clinical geneticists and genetic counselors to practice nondirective counseling, and have raised concerns about the training and practice of primary care providers, which tends to encourage directive behavior (Epstein et al., 1975; Clarke, 1991; Stange et al., 1993). Primary care practitioners were found to be more directive in dealing with genetic situations than geneticists (Holmes-Seidle et al., 1987; Geller et al., 1993). Women who were counseled by a general obstetrician were more likely to terminate a pregnancy in which a sex chromosome abnormality had been diagnosed than if they were counseled by a geneticist (Holmes-Seidle et al., 1987). Geneticists have recognized that their values often are not identical to those of their patients, thereby requiring that they respect patients' abilities to make decisions for themselves (Seller, 1982; Biesecker, 1992a; Kessler, 1992). The variation in approach among practitioners is part of the reason why patients must have the final decision about whether to be tested, even for disorders that are treatable. Biases are inherent to human nature and are often projected by health care providers in less than subtle ways. These biases may reflect the attitudes of health care providers about the nature and meaning of health and disease, the severity of genetic conditions and disorders, quality of life, the appropriateness of decisions related to genetic testing and counseling, acceptance of advice, and other issues of importance in genetics (Lin-Fu, 1981; Kessler, 1992; Uba, 1992). The use of language may be an important medium for the communication of values as well as facts in genetic counseling (see Box 4-1). Directiveness may also result from inadequate interviewing skills, including spending more time on or showing more enthusiasm for one option compared to another (Kessler, 1992).

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Assessing Genetic Risks: Implications for Health and Social Policy BOX 4-1 Issues in the Use of Language in Genetics Since a major component of genetic counseling deals with reproductive decision making, and since genetic counseling is necessarily so value laden and dependent on communication, it is natural that its language would be an important medium of transmitting values (Lin-Fu, 1981, 1987, 1989; Lippman, 1991, 1992a,b; Rapp, 1988a, 1991; Reinharz, 1988; Rothman, 1986, 1992, 1993; Wertz, 1992a-c). The meanings and implications of terminology commonly used in health may be altered in discussing genetics issues. The language of communicable disease and prevention takes on other connotations when applied to genetics, particularly the concept of "eradication" of genetic conditions (e.g., Hoffman, 1991; Cunningham, 1992). Much of the language used in genetics has connotations (or direct derivations) from the language of eugenics (Kevles, 1985; Duster, 1990; King, 1992; Lerman, 1992; Lippman, 1992a; Wertz, 1992b), with implications of perfectibility (Wertz, 1992a-c), which are far from the concepts of variation and kinship emphasized by current genetic counselors and underscored as a goal by this committee (see public education in genetics in Chapter 5). The enormous variability in our genetic makeup makes each of us unique, and we all are likely to carry several genes that contain a mutation having the potential to cause genetic disease in ourselves or in our descendants. In becoming more self-conscious of their own language, geneticists have had insights that can benefit all of medicine in destigmatizing medical language. Use of terms such as defect rather than the more general and descriptive term condition, for example, tends to reflect more determinism about the immutability of genetic factors than may be appropriate in light of the importance of variability of genetic expression, and has harsh and negative connotations. In many other areas of medicine, the developing trend is away from the language of multiple morbidity and toward concepts of functioning status to reflect the variable severity and variable impact of disorders in human life. The language and concepts of genetic defects so common in genetics are especially problematic, raising deep personal concerns in individuals about being inherently flawed (Saxton, 1984, 1988; Asch, 1989; Waxman, 1992): the so-called defect or mutation in the gene is transferred to the person carrying it, rendering them "defective" or "mutant." Calls for the eradication or prevention of genetic disease or of birth defects (e.g., Hoffman, 1991; Modell, 1991; Cunningham, 1992) use the language of infectious disease control but apply it to disorders such as muscular dystrophy and Huntington disease, which are largely untreatable today, where often the only intervention is to prevent the birth of affected fetuses. Such language and the concepts it reflects account for concerns of many persons in the disabilities community about genetic testing and the Human Genome Project. "You're not talking about eradicating disease; you're talking about eradicating me!" as a representative of a disability rights organization said recently (NIH Workshop, 1991). Similarly, language about reducing the incidence and burden of genetic disease to improve the health of society (Rowley et al., 1989; Modell, 1991; Caskey, 1993) employs the utilitarian language of cost-benefit and cost-effectiveness analysis. In the values and language of cost-benefit analysis, prenatal genetic testing programs in which fewer than 50 percent of parents chose to terminate a fetus diagnosed with a genetic disorder are considered to be a ''failure" (OTA, 1992b).

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Assessing Genetic Risks: Implications for Health and Social Policy The language of medicine—and genetics as a subspecialty—may have a very different impact on the patients and clients who are faced with a diagnosis in themselves or in their fetus or child. For example, detection of a disorder is called a positive diagnosis by specialists—"positive for cancer or Huntington disease or Down syndrome—a matter that is anything but positive for the patient or family" (Rapp, 1988a). As discussed throughout this report, such diagnoses, particularly of genetic conditions, have conferred personal and social stigmatization (Duster, 1990; Lippman, 1991, 1992a; King, 1992), including loss of marriageability (Modell et al., 1980; Modell and Mouzouras, 1982; Modell and Petrou, 1988), as well as loss of insurability (Billings, 1991; Billings et al., 1992; see also testimony at the public forum of the Committee on Assessing Genetic Risks, Vol. 2, 1992) and employability (Gostin, 1990; Rothstein, 1992). Terms describing utilization of genetic tests should be scrupulously value-neutral, particularly when no treatment is available. Stating merely that some "chose to be tested" or "chose not to be tested" avoids the value-laden connotations of ''test acceptance or rejection," "uptake or declination" (terms that currently abound in the literature), with their positive and negative overtones. Another example is the widespread use in genetics of the word pedigree for the pictorial family history chart that traces genetic characteristics and disorders in families. In normal parlance, "pedigree" more often brings to mind animal lineage in dogs or horses, for example; such language would be well replaced by the simpler language of "family chart." Given the deeply personal and value-laden nature of genetic information, it behooves everyone involved in any kind of genetic counseling to give careful and sensitive consideration not only to the impact of the language of genetics on clients, for whom the impact is the most immediate, but also to the implications of language on public understanding of the nature and meaning of genetics, and medicine in general should follow suit. Nondirectiveness should not be mistaken for passivity, however. Some counselors, in their eagerness to be nondirective, may shrink from being interactive with clients, from fully exploring the personal implications to them of their alternatives and actions. Nondirective counseling is an active, engaging process built on psychodynamic understandings and concepts, not merely a neutral recital of facts. The commitment to nondirectiveness in genetic counseling arises from respect for the patient's autonomy in decision making. In a multinational survey of geneticists conducted in 1985, nearly all of the respondents cited respect for patients' autonomy and support for their decisions as important goals of genetic counseling (Wertz and Fletcher, 1988). Most respondents did not consider more eugenic goals, such as improving the general health and vigor of the population, or reducing the number of carriers of genetic disorders in the population, as important. However, a significant number did not reject such goals as ones of secondary importance.

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Assessing Genetic Risks: Implications for Health and Social Policy Genetic counseling is a highly value-laden endeavor, and it is essential that genetic counselors become aware of the values and biases they bring to their work (Lin-Fu, 1987; Wenger, 1991; Kessler, 1992). The experience and orientation of the genetics service provider influence descriptions and perceptions of disorders, variability, and especially, of severity; widely varying cultural, socioeconomic, educational, and ethical factors affect descriptions of genetic disorders and their possible outcomes (Lin-Fu, 1987; Biesecker, 1992a; Kessler, 1992). A more negative or more positive description of a disorder may result from the orientation of providers, as well as from their objective in providing genetic counseling (Kessler, 1992). Individual values about genetic testing also vary. For example, since its limited availability in 1986, the number of people actually choosing to take a presymptomatic DNA linkage test for Huntington disease (a fatal, untreatable autosomal dominant disorder of late onset described in Chapter 2) has been lower (Craufurd et al., 1989; Quaid et al., 1989; Tyler and Craufurd, 1992; Wexler, 1992) than was predicted by earlier attitudinal studies (Meissen and Berchek, 1987). Of those who enter testing programs seeking to be tested, once they fully appreciate the ramifications of test information through pretest information and counseling, only 20 percent continue the process to have the test; fully 80 percent choose not to utilize the genetic test. Among the members of the Dutch Huntington's Disease Association who decided not to undergo testing, a large proportion assumed negative consequences even if the Huntington disease gene was shown not to be present, for example, so-called survivor guilt, depression, and ostracism from their family (Huggins et al., 1992; Tibben et al., 1992). The test for Huntington disease has only been given in a few centers familiar with the disease. Now that a test for the gene is possible, great caution must be taken. Serious harms (i.e., unexpected impacts of not considering all the implications of deciding whether to be tested) could emerge from an existing trend to reduce the amount of counseling below the level recommended in the international guidelines and the U.S. protocol on presymptomatic testing for Huntington disease (Quaid, 1992; Wexler, 1992). In the future, tensions surrounding the ethics of genetic counseling will become increasingly evident as more effective treatment becomes available for some genetic disorders, and even more tests are provided in primary care settings. Treatability poses additional dilemmas in deciding whether to give advice to patients to undergo testing beyond providing nondirective genetic counseling. The availability of effective treatment tends to shift the nature of the interaction closer to the model for provision of medical advice and guidance within the context of the ordinary practice of medicine; treatment may be aimed directly at the underlying disease or, in the case of cancer susceptibility, the intervention may involve frequent monitoring for early signs of tumor development. The preservation of autonomous reproductive decision making may also come in direct conflict with traditional public health perspectives, which emphasize choices for societal good in terms of improved health by reducing the overall burden of disease or decreasing social and health care costs. Some clients will

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Assessing Genetic Risks: Implications for Health and Social Policy choose not to reproduce or to selectively abort affected fetuses, and their decisions will coincide with public health objectives. The weighing of risks and harms is complicated since general benefits to society from reducing the societal burden of disease may compete with the particular harms to the individual of losing autonomy and self-determination in areas as deeply personal and defining as genetics and reproduction. As a society, we have decided that such a health trade-off is socially acceptable for certain infectious diseases that pose an imminent threat to health, often to large numbers of people. However, as a society, we have also reached a consensus that such a trade-off is not appropriate for genetic disorders; thus, most compulsory sterilization laws enacted earlier in the twentieth century were subsequently repealed (Andrews, 1987). Informed Consent Principles of informed consent in the provision of genetic testing services, whether experimental or routine, include (1) fair explanation of the procedures to be followed and their purposes, including identification of any that are experimental; (2) description of risks and benefits to be reasonably expected, including the risks and benefits of future treatment; (3) disclosure of appropriate alternative procedures that might be advantageous to the participant; (4) information on what future decisions participants might be asked to make, including the possibility of abortion; (5) offer to answer inquiries; (6) instruction that the participant may refuse the test; and (7) documentation of the consent (see further discussion in Chapter 8). In theory, informed consent has been accepted as an essential component of the doctor-patient relationship, but in general medical practice, physicians frequently fail to communicate elements essential for informed participation by patients (Wu and Pearlman, 1992). Few health care providers have been trained in the psychosocial skills needed to work effectively with patients in the informed consent process (Johnson et al., 1992), which may be associated with a historical reluctance by practicing physicians to factor patients' goals and values into decisions regarding their health care (Hollander, 1992). In 1975, the National Academy of Sciences emphasized the need for obtaining consent by pointing to the nature of the hazards that have been experienced in genetic screening programs, including stigmatization, loss of employment or insurance, and family discord (NAS, 1975). In addition, the 1975 committee stressed that persons being screened or tested should be made fully aware of the limitations of the particular test, such as the risk of false positive or false negative findings and what can be done to minimize that risk. These concerns will become especially relevant as more tests are offered that have lowered sensitivity or specificity, such as those for non-Mendelian multifactorial diseases. The Alliance of Genetic Support Groups (1993) worked with a variety of professional and consumer organizations to develop informed consent guidelines for research involving genetic testing; these have now been released by the Alliance.2 This joint

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Assessing Genetic Risks: Implications for Health and Social Policy the best ways to provide essential genetics education and counseling—by a variety of providers in a variety of settings—precede efforts to streamline genetic counseling (some approaches to these issues are discussed in Chapter 6). However, the committee believes that understanding and recalling numerical risks are too limited as measures of the success of or need for counseling. Beyond mere comprehension of numerical risk, genetic counseling must assist individuals in determining their own acceptable risk. Since risk perceptions vary among individuals and among counselees and counselors, there is no one right way to present or interpret risk information; information must be balanced, with all the options given, and the process must be tailored to the client. The committee also believes that ethnocultural sensitivity is essential in genetic counseling. The committee therefore recommends that genetic counseling should be tailored to the cultural perspective of the client, with special attention to differing cultural perspectives on the role of persons in authority. The committee recommends research to determine how best to provide genetic counseling in ways that are sensitive and appropriate to a variety of cultures and language. Such research should be planned, conducted, and evaluated with the participation of persons from the cultures being studied. Once developed, the results of this research should be widely disseminated not only throughout the professional genetics community, but among health care professionals generally. The committee also recommends that training in culturally appropriate language and delivery of genetics services be included in the preparation of all health and genetics professionals who are likely to provide genetic testing and counseling in the future. As one step in this process, genetic counseling and other genetics training programs should actively seek to increase the number of minority practitioners prepared to provide a variety of genetic counseling roles in a variety of settings (see Chapter 6). The Contexts of Genetic Counseling Newborn Screening Newborn screening programs should be conducted for one purpose only—the identification of treatable disease and benefit to the newborn child (see Chapters 1, 2, and 8). In general, newborn screening should not be conducted if no therapeutic intervention is available (except for carefully defined peer-reviewed research studies). Thus, the committee recommends that newborns not be screened for the purpose of determining the carrier status of the newborn (see Chapters 1 and 8). In the event that a genetic disease is confirmed in a newborn, the parents should be counseled by a knowledgeable pediatrician, genetic counselor, or nurse, not only about the prognosis and treatment options for the newborn, but also about the significance of the findings should the parents choose to have additional children.

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Assessing Genetic Risks: Implications for Health and Social Policy There have been suggestions that newborn screening could also serve as a strategy for providing carrier screening (Cunningham, 1992). These suggestions have been based on reasons of convenience, since most babies are born in hospitals where genetic screening programs are available. However, there are practical as well as social and ethical problems with obtaining and using information on carrier status obtained from newborns. First, as a practical matter, newborns determined to be carriers would have to be followed until their reproductive years to ensure that they are aware of their carrier status when they may choose to know the information. Second, the detection of carrier status in newborns might raise the anxiety level of parents without providing necessary resources to address such concerns, and may create personal and social stigma for the newborn child, including impact on insurability or other negative repercussions. Third, newborn screening is an inefficient way of detecting carriers, and other approaches to carrier screening in young adulthood give more options to people identified as carriers. The committee believes that newborn screening is not the optimal way to determine genetic carrier status of the parents. If carrier status in the newborn or other children is revealed through genetic testing for treatable disease, parents should be informed prior to the screening of the newborn (1) of the possible availability of the information; and (2) the benefits and harms of knowing the carrier status of their children, including that the information has no relevance to the health of the newborn. Because of the risk of possible stigma affecting the development of the child, such information is best provided in the context of genetic counseling; the decisions of the parents about whether to receive such information should always be respected. Finally, genetic services should not be disruptive to families. In general, the committee recommends that misattributed paternity detected through follow-up to newborn screening should only be revealed to the mother and should not be volunteered to the social father (see Chapters 2 and 8). This extremely sensitive issue is likely to become increasingly problematic as genetic testing expands, and the committee recommends research and evaluation of current policies and practices in genetic testing and screening related to identification of misattributed paternity. Determining Carrier Status The committee believes that, ideally, carrier screening should be conducted before a pregnancy occurs, thereby offering individuals more options should they find they are at risk for disease in their future offspring. The committee recognizes that carrier screening often takes place during pregnancy, but recommends the development of innovative methods for practical carrier screening of adults before pregnancy. Better public and provider education may increase preconceptional carrier testing. Research is needed to evaluate simple

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Assessing Genetic Risks: Implications for Health and Social Policy and innovative alternative methods of conveying such information, for example, in pamphlets written in easily understood language. Research is needed to determine how well primary care practitioners are prepared for genetic counseling tasks and what education and training will be required to prepare them for expanded genetic testing and counseling (see Chapter 6). Counseling about identified carrier status may require referral for specialized genetic counseling, for example, in complex or untreatable disorders. In addition, when the sensitivity or specificity of the carrier test is less than optimal and there are social concerns about confidentiality and discrimination; under these circumstances, specialized genetic counseling may also be needed before any genetic test to help clients make a decision about whether to pursue carrier testing. The committee believes that patients should disclose to relatives genetic information relevant to the health of those relatives. However, the committee recommends that confidentiality be breached only in rare circumstances to prevent serious avoidable harm under conditions described in Chapter 8. If there is a possibility that confidentiality may be breached, those circumstances should be fully disclosed in the informed consent process before carrier screening or any other type of genetic service. Under those rare circumstances where unauthorized disclosure of genetic information is deemed warranted, the genetic counselor should first try to obtain the permission of the person to release the information. To facilitate the disclosure of relevant genetic information to family members, accurate and balanced materials should be developed to assist individuals in informing their families and in providing access to further information, as well as access to testing if relatives should choose to be tested. Prenatal Diagnosis The committee is concerned that not enough genetic pretest education and counseling is now given surrounding prenatal diagnosis, and the committee recommends education and counseling both before and after prenatal diagnosis. In most cases, this education and counseling should be provided by a trained genetics professional or a primary care practitioner with special training in genetics. Special training in genetics is needed by anyone offering prenatal or other reproductive genetic testing (see Chapter 6). Prenatal diagnosis may also be offered for high-risk pregnancies, where there was a previously affected child or family member, both parents are carriers of an autosomal recessive disorder, or one parent carries a dominant trait. Pretest genetic education and counseling should help people determine whether they wish to undertake prenatal testing. All of the options available when an abnormality is detected should then be discussed with the client before the test is given. The education and counseling process before prenatal diagnosis entails assessment of family, medical, and pregnancy history; informa-

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Assessing Genetic Risks: Implications for Health and Social Policy tion regarding testing and its implications; and supported decision making. In this process, certain ethical principles should be maintained: (1) testing will be voluntary; (2) confidentiality will be maintained; and (3) parental options will be protected and respected. The committee recommends that additional research be conducted in two areas related to genetic counseling in prenatal diagnosis: A variety of approaches to counseling and informing of results should be evaluated in terms of (1) what the client has learned; (2) whether the client has been offered the opportunity to explore his/her feelings and reactions to the information; and (3) general satisfaction with the way counseling was provided and information reported. Additional research is needed on the impact of prenatal diagnosis, particularly its immediate and long-term impact on women. Such research should include the psychosocial implications—both at the time of pregnancy and later in life—of decision making about selective abortion of a fetus diagnosed with a genetic disorder that may develop early in life. The committee believes that such research will provide important information for the design and evaluation of genetic counseling for prenatal diagnosis for the future both in primary care and in specialized genetics settings. Screening for Late-Onset Disorders In general, neither physicians nor genetic counselors are yet well prepared to deal with the complexities of counseling for late-onset disorders. Therefore, the committee believes that such counseling initially should be provided in a specialized genetics center familiar with the genetics and psychosocial aspects of the disorder in the context of pilot studies. The committee recognizes that—once direct DNA testing can be performed in an individual for the single-gene defects predisposing to breast and colon cancer—there are not enough trained personnel to carry out the recommended counseling. The committee recommends research on genetic testing for breast and colon cancer, including psychosocial impacts, the impact of knowledge about susceptibility genes on the willingness to be tested, and compliance with recommended medical regimens. This research should include caregivers other than geneticists, since it is likely that much testing of this kind will be carried out by nongeneticists in the future. Multiplex Testing The committee recommends the development of innovative methods for multiplex testing, with the grouping of tests by related types of disorders that raise similar issues in terms of the significance of their implications (including the availability of effective treatment and how soon treatment needs to be

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Assessing Genetic Risks: Implications for Health and Social Policy instituted), to allow appropriate education, informed consent, and genetic counseling. This will be a critical issue for the future of genetic testing and genetic counseling. Tests should not be grouped together just because it is technically feasible or economically advantageous; for example, a test for PKU that is treatable should not grouped together with a test for Huntington disease that is not treatable. Tests should be grouped with other tests that have the same implications and issues for genetic education and counseling so that people can make informed decisions about genetic testing; tests should not be grouped according to marketplace exigencies. Research will be required to develop and evaluate innovative methods for the grouping of genetic tests in a way that will make it possible for multiplex testing to embody the committee's basic principles on informed consent and the need for genetics education and counseling (see Chapters 2 and 8). NOTES 1.   It is important to distinguish between the terms ''positive result" and "negative result" in both lay and medical terminology. While a physician would describe test results that reveal the presence of a fetal abnormality as "positive" in terms of detecting the condition for which the test was defined, a lay person would be most likely to describe this result as "negative" in social, emotional, or psychological terms (see discussion of language of genetics, Box 4-1). 2.   These guidelines are available from the Alliance of Genetic Support Groups, 35 Wisconsin Circle, Suite 440, Chevy Chase, MD 20815, 301-652-5553. REFERENCES Alliance of Genetic Support Groups. 1993. Informed Consent: Participation in Genetic Research Studies. Chevy Chase, Md. Andrews, L. 1987. Medical Genetics: A Legal Frontier. Chicago: American Bar Foundation. Angastiniotis, M. 1991. Development of Genetics Services from Disease Oriented National Genetics Programs (Cypress Thalassemia Centre, Archbishop Makarios III Hospital, Nicosia, Cyprus). Presentation at the 8th International Congress of Human Genetics , Washington, D.C., October. Asch, A. 1989. Reproductive technology and disability. In Cohen, S., and Taub, N. (eds.) Reproductive Laws for the 1990s. Clifton, N.J.: Humana Press. Beeson, D., and Golbus, M. 1985. Decision making: Whether or not to have prenatal diagnosis and abortion for X-linked conditions. American Journal of Medical Genetics 20:107-114. Biesecker. B. 1992a (published in 1994). Genetic counseling: Settings, providers and goals, current and future. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press. Biesecker, B. 1992b (published in 1994). Issues in genetic counseling for prenatal diagnosis. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press. Billings, P. 1991. Causes of discrimination in health insurance. Genewatch 7(6):2-3. Billings, P., et al. 1992. Genetic discrimination in insurance. American Journal of Human Genetics 50:476-482. Brock, D. 1984. Cystic fibrosis. In Wald, N. (ed.) Antenatal and Neonatal Screening. New York: Oxford University Press. Burke, W., et al. 1993. Clinical implications of genetic susceptibility testing: Nondirective counseling

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Assessing Genetic Risks: Implications for Health and Social Policy Hodgkinson, K., et al. 1990. Adult polycystic kidney disease: Knowledge, experience, and attitudes to prenatal diagnosis. Journal of Medical Genetics 27:552-558. Hoffman, E. 1991. Presentation at the Conference on Biotechnology and the Diagnosis of Genetic Disease: Forum on the Technical, Regulatory and Societal Issues. Program on Technology and Health Care, Department of Community and Family Medicine, Georgetown University Medical Center. Washington, D.C., April. Hofman, K., et al. 1993. Physicians' knowledge of genetics and genetic tests. Academic Medicine 68(8):625-631. Hollander, R. 1992. In Johnson, S., et al. Teaching the process of obtaining informed consent to medical students. Academic Medicine 67(9):598-600. Holmes-Seidle, M., et al. 1987. Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenatal Diagnosis 7:239-244. Holtzman, N. 1989. Proceed with Caution: Predicting Genetic Risks in the Recombinant DNA Era. Baltimore, Md.: The Johns Hopkins University Press. Holtzman, N. 1990. Prenatal screening: When and for whom? Journal of General Internal Medicine 5(S):542-546. Holtzman, N. 1992. The interpretation of laboratory results: The paradoxical effect of medical training. Journal of Clinical Ethics 2(4): 1-2. Hoyt, Heidi. 1992. Testimony before the Human Resources and Intergovernmental Relations Subcommittee of the Committee on Government Operations. U.S. Congress, House of Representatives. Washington, D.C., July 23. Huggins, M., et al. 1992. Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. American Journal of Medical Genetics 42:508-515. Johnson, S., et al. 1992. Teaching the process of obtaining informed consent to medical students. Academic Medicine 67(9):598-600. Juengst, E. 1988. Prenatal diagnosis and the ethics of uncertainty. In Monagle, J. (ed.) Medical Ethics: A Guide for Health Professionals. Rockville, Md.: Aspen Publishers. Kaback, M. 1977. Tay-Sachs disease: From clinical description to prospective control. In Kaback, M. (ed.) Tay-Sachs Disease: Screening and Prevention. Progress in Clinical and Biological Research 18:1-7. Kaback, M. 1992 (published in 1994). Genetic knowledge and attitudes: A multi-ethnic study. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press. Kaback, M., et al. 1984. Attitudes toward prenatal diagnosis of cystic fibrosis among parents of affected children. Pp. 15-28 in Lawson, D. (ed.) Cystic Fibrosis Horizons. Proceedings of the 9th International Cystic Fibrosis Congress. Chichester, N.Y.: Wiley. Kaback, M., et al. 1986. Genetic knowledge and attitudes: A multiethnic study. National Technical Information Service. PB87162947/AS. Washington, D.C.: U.S. Department of Commerce. Kahneman, D., and Tversky, A. 1982. The psychology of preference. Scientific American 246:160-171. Kenen, R., and Schmidt, R. 1978. Stigmatization of carrier status: Social implications of heterozygote genetic screening programs. American Journal of Public Health 68:1116-1120. Kessler, S. (ed.). 1979. Genetic Counseling: Psychological Dimensions. New York: Academic Press. Kessler, S. 1980a. Genetic associates/counselors in genetic services. American Journal of Human Genetics 7:323-334. Kessler, S. 1980b. A psychological paradigm shift in genetic counseling. Social Biology 27(3): 153-167. Kessler, S. 1981. Psychological aspects of genetic counseling: Analysis of a transcript. American Journal of Medical Genetics 8:137-153. Kessler, S. 1989. Psychological aspects of genetic counseling. VI: A critical review of the literature dealing with education and reproduction. American Journal of Medical Genetics 34:340-353.

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