- Email: [email protected]
Genetic Counseling: Historical, Ethical, and Practical Aspects
Genetic Counseling: Historical, Ethical, and Practical Aspects Jo¨rg Schmidtke, Hannover Medical School, Hannover, Germany Heather Skirton, Plymouth University, Taunton, United Kingdom Irmgard Nippert, Westfaelische Wilhelms-Universitaet Muenster, Muenster, Germany Gerhard Wolff, Goethestraße, Freiburg, Germany Ó 2015 Elsevier Ltd. All rights reserved.
Abstract Genetic counseling refers to the totality of activities that (1) establish the diagnosis of genetic disease, (2) assess the occurrence risk, (3) communicate to the patient and family the chance of recurrence, (4) provide full and unbiased information within a caring relationship regarding many problems raised by the disease and its natural history, including the potential medical, economic, psychological, and social burdens, and (5) provide information regarding the reproductive options. The understanding and goals of genetic counseling as they evolved over the last century exemplify the substantial shift in understanding, determining, diagnosing, and handling of hereditary/genetic risks. At present, nondirective concepts have found broad, though not universal, acceptance.
Genetic counseling is one of the most important direct applications of human genetic knowledge. Genetic counseling refers to the totality of activities that (1) establish the diagnosis of genetic disease, (2) assess the occurrence risk, (3) communicate to the patient and family the chance of recurrence, (4) provide full and unbiased information within a professional caring relationship regarding many problems raised by the disease and its natural history, including the potential ethical conflicts as well as the medical, economic, psychological, and social burdens, and (5) provide information regarding the reproductive options to be taken, including prenatal diagnosis, and referral of patients to the appropriate specialists. Genetic counseling should offer guidance but will allow those being counseled to arrive at their own choices, both before and after genetic procedures (Vogel and Motulsky, 2010; World Health Organization [WHO], 2012).
Paradigm Development and Concepts of Genetic Counseling Prescientific knowledge of heritability in humans dates back to the early Greek physicians and philosophers, who presumably dispensed practical advice to individuals and couples as to how to use such knowledge (Vogel and Motulsky, 2010). The idea of an improvement of humankind by deliberate mate selection was a major aspect of ancient and Renaissance state and social utopias [Plato, Politeia (ca. 374 BC); Thomas More, Utopia (1516); Fra Tomaso Campanella, The City of the Sun (1623)]. In the medical literature of the eighteenth and nineteenth centuries, reports on the familial recurrence of particular disorders began to accumulate. An early and noteworthy example is the book by the English physician Joseph Adams (1756–1818), A Treatise on the Supposed Hereditary Properties of Diseases (1814), which attempts to lay out the fundamentals of genetic counseling for families affected by a genetic disorder. Toward the end of the nineteenth century, two paradigms established human genetics as a science. Gregor Mendel (1822–84) originated the concept of the gene as the basic factor
908
of inheritance (1866), while Francis Galton (1822–1911) introduced statistical methods to investigate and interpret the familial clustering of traits and thus founded the biometrical paradigm. Until the present, biometrics and Mendelian genetics have remained the basis of risk determination as the naturalistic component of genetic counseling. Galton coined the term ‘eugenics’ to mean the improvement of a population through measures to enhance propagation of individuals with supposedly high genetic qualities (positive eugenics) and discourage reproduction in those with undesired characteristics (negative eugenics). In Germany, around the turn of the twentieth century, Wilhelm Schallmeyer (1857–1919), Alfred Hegar (1830–1914), and Alfred Ploetz (1860–1940) developed the idea of negative eugenics–a concept of decreasing the number of offspring of individuals with supposedly belowaverage hereditary qualities, or of preventing congenitally diseased individuals from reproducing altogether, with the aim of improving the gene pool of future generations and especially that of the presumed superior Nordic race (see Ploetz, 1895). In many countries during the first half of the twentieth century, positive and negative eugenics formed the ideological basis of state-enforced measures to exert reproductive control over individuals. Between 1911 and 1930, 24 U.S. states proclaimed sterilization laws, and eugenic thought also played a role in the enactment of restrictive immigration laws. In Europe, Denmark was the first country to proclaim a Law on Genetic Hygiene (1929), in which voluntary sterilization for genetic reasons was regulated. In Germany, the Law for the Prevention of Congenitally Diseased Progeny (1933), followed by a series of other laws and decrees, mandated and organized the sterilization of individuals with certain diseases, which were thought to be genetically determined. In Germany, eugenics, racial hygiene, and National Socialist ideology formed a gloomy alliance. The involvement of German geneticists in coercive measures and eventually the Holocaust to sections of the population that were declared to be inferior has been well documented by Müller-Hill (1997). It is beyond doubt that this historical burden strongly influences the current debate on ethics and genetics in Germany and elsewhere.
International Encyclopedia of the Social & Behavioral Sciences, 2nd edition, Volume 9
http://dx.doi.org/10.1016/B978-0-08-097086-8.82024-3
Genetic Counseling: Historical, Ethical, and Practical Aspects
From about 1930 onward, the eugenic movement outside Germany began to lose power, but it was not until the 1950s that the population-directed eugenic orientation was slowly replaced by a medically oriented practice with genetic disease prevention as a major focus. Nevertheless, eugenic thinking, whether acknowledged or not, has continued to play a role until the present time, especially outside the Western world (Wertz, 1997). When, in 1947, Sheldon Reed coined the term ‘genetic counseling,’ it became clear that eugenics and what was then understood to be genetic counseling, were different entities. One historian (Stern, 2005) states that rather than clinical genetics being a complete departure from the eugenics movement, many of the concepts were retained, but the service was delivered in ways that enabled individual choice to be paramount. Clinical genetics differs in this sense from public health genetics, the focus of which is the improvement of the health of large populations in any public health setting. According to Reed, “genetic counseling is a type of social work entirely for the benefit of the whole family without direct concern for its effect upon the state or politics” (1974). This definition marks a change of paradigm in applied human genetics, away from the concern about the genetic makeup of the population and toward the attitude that decision making with regard to genetic risks should be left to the individual, even if this may create or increase social costs or be perceived as somehow worsening the gene pool. Thus, one of the fundamental ethical principles in medicine–respect for the autonomy and self-determination of persons–is also the cornerstone of genetic counseling. Genetics in relation to human health has thus gone through three overlapping historical phases (Table 1). First, the eugenics phase, mainly rooted in England, the United States, Scandinavia, and Germany, was based on the social and biological utopia of general mental and physical health and the optimization of humankind. In order to attain these goals, depending on political circumstances, directive measures including direct and indirect coercion were applied. Eugenics was scientifically ill founded, and the definition of inferior or superior genetic qualities was a matter of ideology. Second, the preventive-medical phase laid its emphasis on reducing individual suffering through prevention of genetic diseases and disabilities, in order to economize rare social welfare and medical resources. It was founded on the rational calculation that any means toward that end would find acceptance as being in the immediate interest of the individual. Strategies were those of benevolence, authority, and paternalism. Third, in the biopsychosocial phase, the focus of genetic counseling is to help the individual or the family to manage a problematic situation caused by genetic disease. The basis of
Table 1
909
this help is a complex interaction between the counselor (a specialized physician or a nonmedically trained expert) and the client (patient) in a nondirective process of communication. Help is provided with the understanding that genetic diseases are often associated with special psychosocial problems and ethical conflicts that should be addressed individually. Thus, any direct or indirect coercive influence is to be avoided. Nondirectiveness became a basic concept of genetic counseling (Wertz, 1997). However, genetic counselors have questioned the value of nondirective counseling from the patient’s perspective for several decades, as it was interpreted by some as an inability to support patients in their decision-making process, rather than a lack of coercion (Wolff and Jung, 1995; Kessler, 1997). Patients frequently seek some reassurance from the counselor that the course of action they propose to take would be reasonable, and good counseling practice includes the exploration of the values and beliefs of the client and support for a decision that would be consistent with those values (Weil et al., 2006; Bartels et al., 1997). In addition, it should be clear that better health outcomes are likely to ensue from particular decisions, for example, having a genetic test that would clarify the need for invasive clinical surveillance (Schwartz et al., 2012). Under these circumstances, it is clear that provision of accurate information about potential benefits or disadvantages of testing should be explained as part of the genetic counseling process and that identifying health benefits should not be seen as coercive. However, coercion may exist where the counselor clearly tries to influence the patient to confirm to his or her own views. The history of genetic counseling shows that its purpose has always been value-determined and has never been seen outside the context of social politics in which it was embedded. In countries that acknowledge human rights as defined in the democratic state theories of the eighteenth century, the only defensible position is that of the autonomy of the individual to make decisions regarding genetic counseling and genetic diagnosis, and to draw consequences for life and family planning. The health care system, on the other hand, carries the ethical obligation to provide full information and the tools that may enable the individual, depending on the state of knowledge, the emotional situation, and moral positioning, to make use of that information.
Excursus: Ethics and Genetic Counseling: The Respect for Personal Autonomy Today the term ‘eugenics’ is sometimes used to describe the cumulative result of individual choices after genetic counseling, especially in view of reproductive choices. The decreasing
Paradigm shifts in applied human genetics
Paradigm
Basis
Goal
Measure
Eugenics Prevention
Emotionally influenced social utopia Rational calculation
Directiveness, compulsion, coercion Paternalism
Psycho(socio)-biology
Complex interaction between counselor (doctor) and client (patient)
Improvement of the gene pool Reduction of individual suffering, economic distribution of resources Help in individual decision making
Empathy, nondirectiveness
910
Genetic Counseling: Historical, Ethical, and Practical Aspects
prevalence of births of children with Down syndrome in western Europe, especially in the UK, may be regarded as a result of individual choices to undergo prenatal diagnosis and subsequently to terminate a pregnancy after a positive test result. Whether this type of individual eugenics is a benign development and socially desirable has been discussed with some controversy by Wertz (1998). Critics argue that free, autonomous choices (after genetic counseling) not only depend on surrounding social, cultural, and other factors, but also on the full and honest presentation of information in genetic counseling–that is, on access to valid information. Informed consent can only be said to exist under three conditions: The patient is given the appropriate information; the patient is competent to make the decision; and there is no coercion involved (Beauchamp and Childress, 2001). In the absence of correct and unbiased information, free choices are not possible and are compromised, and information and genetic counseling become a means of furthering the attitudes and goals of health professionals. A worldwide survey of 2091 genetics professionals in 36 nations conducted by Wertz (Nippert and Wolff in Germany) suggests that eugenic thought underlies the perception of the goals of genetics and genetic counseling in many countries. In developing nations of Asia and eastern Europe especially, directive counseling is practiced to influence individual decisions. Intentionally pessimistically biased information is routinely provided after positive results from prenatal diagnosis in order to avoid the birth of affected children (Wertz, 1998; Cohen et al., 1997). The data from this survey suggest that the concept of nondirective counseling found in English-speaking nations and western Europe is an aberration from the rest of the world.
Table 2
Indications for genetic counseling
1. Birth of a child with congenital disease or disability 2. One or more relatives suffering from (suspectedly) genetic disease or disability 3. Affected counselee 4. Consanguineous couple 5. Recurrent miscarriage 6. Infertility 7. Mutagenic influences 7.1 Advanced maternal age 7.2 Pre- or postconceptional mutagen exposure 8. Teratogenic exposure 8.1 Infections 8.2 Drugs 8.3 Alcohol 8.4 Radiation
Concerns, including moral doubts, may have been raised, for example, by offers of prenatal screening (maternal serum marker and ultrasound screening), or carrier detection, within or outside the framework of a defined screening program because such offers may bring up the question of termination of the pregnancy.
The Counseling Process According to an initial definition issued by an Ad hoc Committee on Genetic Counseling of the American Society of Human Genetics, genetic counseling is a communication process that:
Indications for Genetic Counseling In medicine in general, a therapeutic activity is ‘indicated,’ when, after weighing the risks and benefits, it appears medically required. This definition is hardly applicable to genetic counseling because the recognition of risks and benefits of knowledge, as well as any actions that may result from such knowledge, will emerge only in the counseling process itself, and their appraisal is often more strongly determined by individual life circumstances than by medical judgment. On the other hand, the professionalization of genetic counseling as a specialization within medicine, and the need for correctness and completeness of any medical advice, have brought about a core service that every counselee may duly expect to receive: a scientifically founded statement regarding the etiology and the (recurrence) risk of a genetic condition, comprehensive information and counseling regarding diagnostic options, and referral to preventive, therapeutic, and/or socially alleviating measures. Generally speaking, an indication for genetic counseling is given whenever an individual regards it as a means to help solve a personal problem related to an existing or suspected genetic risk. Table 2 summarizes the most frequently encountered situations. With the increasing awareness and availability of pre- and postnatal methods of genetic diagnosis, individuals may find themselves unexpectedly receiving risk information about conditions of which they had previously been unaware.
.deals with the human problems associated with the occurrence or risk of recurrence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or the family to 1. comprehend the medical facts, including the diagnosis, the 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 options for dealing with the risk of recurrence; 4. choose the course of action which seems appropriate to them in view of their risk and their family goals and act in accordance with that decision; 5. make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder. (Fraser, 1974; Ad hoc Committee on Genetic Counselling, 1975)
However, developments in the profession resulted in a new definition of genetic counseling that involves an approach aimed at integrating the genetic information with other aspects of the client’s life and encompasses more of the educational aspects of the activity. According to members of a task force of the National Society of Genetic Counselors (Resta et al., 2006, p. 77), “Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: l
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Genetic Counseling: Historical, Ethical, and Practical Aspects l
Education about inheritance, testing, management, prevention, resources and research. l Counseling to promote informed choices and adaptation to the risk or condition.” The counseling process is usually initiated by clarifying the counselee’s motivation for consultation. What is the background to the problem, and what are the expectations? The counselor should explain, in general terms, what genetic counseling can achieve and where its limits lie. This is important because expectations are frequently unrealistic. It needs to be explained, for example, that it is technically not possible to exclude any kind of genetic risk or to guarantee a healthy child. The next step is to record the personal and family medical history in the form of a genealogical tree, encompassing at least all first- and second-degree relatives. This is followed by providing the family with information regarding the most important medical facts concerning the disease in question (natural history of the disease, the likely degree of suffering it may confer, its treatability) as well as the likelihood of its occurrence or recurrence. It is important to give unbiased, objective information. During the later phases of the counseling process, the counselor will often return to this information to relate it to the personal views of the counselee. The ‘prior’ risks for a genetic condition as deduced from its pattern of inheritance (monogenic dominant or recessive, autosomal or sex-linked, co-determined by several genes and/or the environment) may be modifiable by genetic diagnostic tests, other clinical test results, or other information (such as number of unaffected children in a family), so that a more precise risk figure emerges. Ever more often, with the near completion of sequencing and functionally annotating the human genome (Human Genome Project, 1997) and concomitant technical developments becoming routine practice, firm confirmation or exclusion of carrier status for any particular genetic disposition will be the rule rather than the exception. Nevertheless, the phenotypic outcome will often be variable, due to environmental factors, complex interactions between genes, and other ‘non-Mendelian’ genetic and epigenetic factors such as imprinting. In the counseling process, the resulting uncertainty needs to be explained and worked upon with great care. Without thoroughly understanding the chances and limits of genetic testing, an informed consent to any such procedure cannot be attained. Informed consent is generally held to be the prerequisite for any genetic testing, but as previously stated, the need for nondirectiveness in all situations is now questioned, even by potential users of the health service. A study by Martin et al. (2010) indicated that discussion among members of the public was more focused on individuals making choices rather than the principle of informed consent, although they did emphasize public education was a prerequisite to choice. They also expressed concern that coercion to be tested might stem from other members of family, rather than from health professionals. During the counseling process it may be necessary to make a physical examination of the counselee and/or of family members in order to search, for example, for early signs of a lateonset disorder or microsymptoms of a disease. The impact of such an examination needs to be explained beforehand because counselees and their family members may wish to help clarify
911
genetic risks for others, but not necessarily for themselves. It is sometimes difficult to decide to what extent information from the family history (such as risk for another condition that is apparent to the counselor but unsuspected by the counselee) needs to be discussed, if this information has not been central to the counselee’s motivation for consultation. This is particularly delicate when no therapeutic or preventive options exist. Where these options do exist, however, the counselee has a right to comprehensive information and counseling.
The Determination of Genetic Risks The determination of genetic risks in any individual case is the essential component of genetic counseling. It requires expertise in general and human genetics, including formal (mathematical) genetics, population genetics, and clinical genetics, as well as an awareness of novel developments, especially in the differential genetic diagnosis (attainable in this fast-moving field only through continuous further self-education). In the following discussion, we provide a summary of the most important groups of conditions in which a risk assessment is often sought and present a brief outline of risk provision. Often, the prior genetic risks need to be modified by using information from the pedigree or genetic tests (conditional probabilities). By employing Bayesian methodology, this information can be used to arrive at posterior (final) risks (Harper, 1998). If a disease is (mainly) due to the effect of a single gene, the phenotype may be inherited in a recessive or a dominant fashion. The disease may manifest itself in a sex-dependent way, if the causative gene is not located on the autosomes (the chromosomes shared by both sexes in equal number) but rather on the sex chromosomes (X and Y). In an autosomalrecessive condition, the recurrence risk in a sibship is 1/4, but usually low (less than 1%) for second-degree relatives. If a parent has an autosomal-dominant condition, there is a 50% chance that each child will also carry the disease-causing mutation. If neither parent has a condition that is known to be autosomal-dominant, the recurrence risk in a sibship is usually negligible, because the presumption is that a spontaneous mutation has occurred in the germ line leading to the affected individual. In X-linked recessive disease, if the mother is a carrier, half of all her sons will develop the full clinical picture, and half of her daughters will be carriers. Mothers and daughters are usually unaffected or exhibit symptoms to a lesser degree (due to nonrandomness of X-inactivation during early development). In Y-linked disease (such as subfertility), the trait is passed on from fathers to sons. In both recessive and, most notably, dominant conditions, the inheritance patterns may be obscured by variable penetrance (proportion of carriers manifesting the phenotype at all) and expressivity (degree of disease severity). Greatly reduced penetrance and expressivity–that is, where only a small fraction of carriers suffer from the condition–leads to the concept of genetic predisposition (susceptibility) for disease, which may be modulated by other genes or environmental factors. Polygenic and multifactorial inheritance are the etiology of most of the common diseases (such as coronary heart disease, obesity, and diabetes mellitus) and the majority of cases of birth defects. In these categories, empirical risk figures apply.
912
Genetic Counseling: Historical, Ethical, and Practical Aspects
Numerical chromosomal aberrations are usually sporadic, with a low empirical recurrence risk in a sibship, but they may also run in families (e.g., structural aberrations, such as translocations, which may be inherited as balanced or unbalanced in offspring in a more or less apparent Mendelian fashion).
Genetic Counseling in the Social Context How has genetic counseling and its supposed high standards fared in common practice? Throughout the world, the professional identity and training of providers of genetic counseling services varies. In Germany, for example, most counseling services are provided by physicians who are specialists in medical genetics (Nippert et al., 1997), while in many others (such as the United States, Canada, South Africa, Japan, France, the Netherlands, and the UK) a multidisciplinary team (including medical doctors, genetic counselors, and genetic nurses) is involved. While genetic counseling as an activity can be provided by professionals from a number of backgrounds, genetic counselors are specifically trained nonmedical professionals. A recent overview of the genetic counselor and genetic nurse in Europe (Cordier et al., 2011) indicated that differences in professional backgrounds and relative numbers of practitioners existed between countries. For example, in some European countries (e.g., France, the UK, Romania, Spain, and Portugal), genetic counselors are educated through a master’s program in genetic counseling, while in others no such program exists and practitioners may have a wide range of backgrounds, including laboratory genetics, nursing, or social work. In Europe, only the UK has a national system for registration of genetic counselors. In the United States and Canada specialist genetic counselors must complete an approved master’s degree in genetic counseling and be certified by the American Board of Genetic Counseling or the Canadian Association of Genetic Counselors, while a similar system exists in Australia and South Africa. Despite differences in education and background, a survey of 216 European genetic nurses and counselors showed that clinical practice was remarkably similar across countries (Skirton et al, 2013). The majority of respondents stated that they alone or with a medical colleague took responsibility for making the first contact with the family (87.9%), drawing the pedigree (85.2%), explaining a genetic test to the patient (79.5%), and providing psychological support through the testing process. Over 81% managed some cases without the input of a medical doctor. While published policies and guidelines on provision of genetic services have existed for some time (Fraser, 1974; German Society of Human Genetics, 1996; Andrews et al., 1994; WHO, 1998; Fryer and Lister Cheese, 1998; Holtzman and Watson, 1997), the type of information and the way information was communicated was found to vary within and between countries, and standard practices developed only slowly. Obviously, genetic counseling practices were shaped by the characteristics of the various health care systems, as well as by the personal characteristics of the counselor, such as sex, professional expertise, and type of employment. The process and outcomes of genetic counseling have been documented by a few empirical studies (Sorenson, 1992). Initially, outcomes
were defined primarily on the basis of patient knowledge and patient satisfaction (Clarke et al., 1996), but this has altered in recent years. Researchers now approach the topic in a holistic manner to determine the outcomes of importance to patients and professionals (Skirton, 2001, Skirton et al., 2005; McAllister et al., 2008a; 2008b). These studies have shown that genetic counseling can help individuals adapt psychologically to their circumstances and enhance their sense of empowerment. Concern has been voiced that in the future more counseling will be provided by professionals not trained in genetics. Although there is insufficient empirical evidence that genetic counselors successfully achieve autonomous, informed decision making, research from Europe and the United States suggests that nongeneticists do not set a high value on providing information that allows informed decision making before undergoing tests such as prenatal diagnosis (Dodds, 1997) or predictive testing (Burke, 2004). In recent years, an initiative to harmonize the standards and practices of genetic counseling was started within the EUfunded Network of Excellence ‘Eurogentest’ (www.eurogentest. org). It included a survey of legislation regarding genetic counseling in European member states (http://www. eurogentest.org/professionals/info/public/unit3/regulations. xhtml; Soini (2012)), a survey of international bodies including political institutions, professional organizations, ethical boards, and patient associations (http://www.eurogentest.org/ web/files/public/unit3/summaryofguidelinesMay06.pdf), and a survey among European National Societies of Human Genetics (http://www.eurogentest.org/web/files/public/unit3/ Results_of_survey_1_WP_3-1_Dec06.pdf). What emerged from these activities were the Eurogentest “Recommendations for Genetic Counseling Related to Genetic Testing” (http:// www.eurogentest.org/professionals/info/public/unit3/final_ recommendations_genetic_counselling.xhtml). These activities respond to a widely felt need for standardization of genetic counseling practice, thereby improving the quality of genetic counseling especially in the context of old and new genetic testing options. With the development of more new molecular tests, implementation of these tests in various fields of medicine is expected to drive the diversification of genetic counseling practice. While at present many general health care providers and nongenetics specialists do not have sufficient professional education and expertise in genetics, molecular testing, and genetic counseling to perform this task as shown by the European study on genetics education (Harris et al., 2006), there are certainly specialists in other areas who are providing effective and appropriate genetic counseling services and genetic testing in relation to their own fields. For example, in oncology, cardiology, and diabetes care, presymptomatic testing of those at risk has enabled resources, clinical surveillance, and treatment to be targeted at those who will benefit from them. However, there is an issue around provision of education for providers via medical curricula and continuing education. Genetic specialists are arguably the most valid source for providing the needed expertise and information for their medical colleagues to facilitate their understanding of basic genetic principles and the application of molecular testing, including pre- and post-test counseling, in clinical practice.
Genetic Counseling: Historical, Ethical, and Practical Aspects
However, the more genetics becomes part of general medicine and the more genetic testing is introduced into the various specialty areas, the more the task to provide information and to interpret test results will fall on primary care physicians and nongenetics specialists. Indeed, it could be claimed that primary care is the appropriate setting in which to utilize the power of genomic tests to create more truly personalized medicine (Gibbon, 2009). This requires greater genomics literacy among those health professionals in both secondary and primary care. In its Federal Act on Genetic Testing put into force in 2010, Germany, for example, has not only implemented a legal obligation for all medical doctors to recommend to their patients genetic counseling in the context of genetic testing but also to undergo training in genetic counseling themselves (via continuous medical education measures), unless they refer to specialized genetic counselors. Given that genetic test utilization is rising steeply (Schmidtke et al., 2005) and genetic centers are sparse and understaffed, such referrals may become restricted to complicated cases, while the majority of genetic counseling may be given from nongenetic specialists. The European Society of Human Genetics has recently published “Core Competences in Genetics for Health Professionals in Europe” (https://www.eshg.org/139.0.html), in which many of the skills currently expected from specialized genetic counselors are stated to be core competences in primary and secondary nongeneticist specialists’ care. These competences are already being adopted for use in preparing specialists in other settings (e.g., nurses working in hemoglobinopathy or inherited bleeding disorder clinics in the UK) to offer appropriate care to patients. Importantly, the core competences stress the need for appropriate information, patient choice, and ethical practice, whatever the clinical context in which genetic health care is offered. Most likely, the future of genetic testing and counseling will be shaped by economic interests; there is of course the need for financial returns on heavy investments made in the field of molecular testing, by reimbursement practices, and by the extent to which national health care policies will encourage genetic testing. It remains unclear whether the main ethical concepts attached to genetic counseling, such as nondirectiveness, individual autonomy, and greater equality in the doctor–patient relationship, will survive or will wither away during the integration of genetic tests into routine medical practice. Hopefully, genetic counseling will retain some of its best elements, namely, respect for patients’ rights to valid, nonslanted information and for patient autonomy in decision, making.
See also: Ethical Dilemmas, Research, and Access to Treatment; Ethics and Psychiatry; Eugenics, History of; Genetic Screening for Disease; Genomics, Ethical Issues In; Risk Screening, Testing, and Diagnosis: Ethical Aspects.
Bibliography Ad hoc Committee on Genetic Counselling of the American Society of Human Genetics, 1975. Genetic counselling. American Journal of Human Genetics 27, 240–242. Assessing genetic risks. In: Andrews, L.B., Fullarton, J.E., Holtzman, N.A., Motulsky, A.G. (Eds.), Implications for Health and Social Policy. National Academy Press, Washington, DC.
913
Bartels, D.M., LeRoy, B.S., McCarthy, P., Caplan, A.L., 1997. Nondirectiveness in genetic counseling. Journal of Genetics Counseling 72 (2), 172–179. Beauchamp, T.L., Childress, J.F., 2001. Principles of Biomedical Ethics, fifth ed. Oxford University Press, ISBN 0-19-514332-9. Burke, W., 2004. Genetic testing in primary care. Annual Review of Genomics and Human Genetics 5, 1–14. Clarke, A., Parsons, E., Williams, A., 1996. Outcomes and process in genetic counselling. Clinical Genetics 50, 462–469. Cohen, P.E., Wertz, D.C., Nippert, I., Wolff, G., 1997. Genetic counselling practices in Germany: a comparison between East German and West German geneticists. Journal of Genetic Counselling 6, 61–80. Cordier, C., Lambert, D., Voelckel, M.A., Hosterey-Ugander, U., Skirton, H., 2011. A profile of the genetic counsellor and genetic nurse profession in Europe. Journal of Community Genetics. http://dx.doi.org/10.1007/s12687-011-0073-x Published online 14 December 2011. Dodds, R., 1997. The Stress of Tests in Pregnancy: Summary of a National Childbirth Trust Screening Survey. National Childbirth Trust, London. Fraser, F.C., 1974. Genetic counselling. American Journal of Human Genetics 26, 636–659. Fryer, A.E., Lister Cheese, I.A.F., 1998. Clinical Genetic Services: Activity, Outcome, Effectiveness and Quality. The Royal College of Physicians of London Report from the Clinical Genetics Committee of the Royal College of Physicians of London, London. Gibbon, S., 2009. Genomics as public health? Community genetics and the challenge of personalised medicine in Cuba. Anthropology and Medicine 16 (2), 131–146. Harper, P., 1998. Practical Genetic Counselling, fifth ed. Butter-worth-Heinmann, Oxford, UK. Harris, R., Challen, K., Benjamin, C., Harris, H., 2006. Genetic education for nongeneticist health professionals. Community Genetics 9 (4), 224–226. Holtzman, N.A., Watson, M.S., 1997. Promoting Safe and Effective Genetic Testing in the United States. Final Report of the Task Force on Genetic Testing, Johns Hopkins University Press, Baltimore. Human Genome Project, http://www.ornl.gov/TechResources/Human_Genome/home.html Kessler, S., 1997. Psychological aspects of genetic counselling XI: nondirectiveness revisited. American Journal of Medical Genetics 72, 164–171. Martin, D.K., Greenwood, H.L., Nisker, J., 2010. Public perceptions of ethical issues regarding adult predictive genetic testing. Health Care Analysis 18, 103–112. McAllister, M., Payne, K., Macleod, R., Nicholls, S., Dian, D., Davies, L., 2008a. Patient empowerment in clinical genetics services. Journal of Health Psychology 13 (7), 895–905. McAllister, M., Payne, K., Macleod, R., Nicholls, S., Donnai, D., Davies, L., 2008b. What process attributes of clinical genetics services could maximise patient benefits? European Journal of Human Genetics 16 (12), 1467–1476. Müller-Hill, B., 1997. Murderous Science: Elimination by Scientific Selection of Jews, Gypsies and Others in Germany 1933–1945. Oxford University Press, Oxford, UK. Nippert, I., Horst, J., Schmidtke, J., 1997. Genetic services in Germany. European Journal of Human Genetics 5 (Suppl. 2), 81–88. Ploetz, A., 1895. Racial hygiene. In: Weingart, P., Knoll, J., Bayertz, K. (Eds.), Rasse, Blut und Gene. Frankfurt/Main. Suhrkamp, Germany. Resta, R., Biesecker, B.B., Bennett, R.L., Blum, S., Hahn, S.E., Strecker, M.N., Williams, J.L., 2006. A new definition of genetic counselling: national Society of genetic counselors’ task force report. Journal of Genetic Counselling 15 (2), 77–83. Schmidtke, J., Pabst, B., Nippert, I., 2005. DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002. Genetic Test 9, 80–84. Schwartz, M.D., Isaacs, C., Graves, K.D., Poggi, E., Peshkin, B.N., Gell, C., Finch, C., Kelly, S., Taylor, K.L., Perley, L., 2012. Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer 118 (2), 510–517. Soini, S., 2012. Genetic testing legislation in Western Europe – a fluctuating regulatory target. Journal of Community Genetics 3, 143–153. Skirton, H., 2001. The client’s perspective of genetic counselling - a grounded theory study. Journal of Genetic Counselling 10 (4), 311–329. Skirton, H., Cordier, C., Lambert, D., Lambert, D., Hosterey Ugander, U., Voelckel, M.A., O’Connor, A., 2013. A study of the practice of individual genetic counsellors and genetic nurses in Europe. Journal of Community Genetics 4 (1), 69–75. Skirton, H., Parsons, E.P., Ewings, P., 2005. Development of an audit tool for genetic services. American Journal of Medical Genetics 136 (2), 122–127.
914
Genetic Counseling: Historical, Ethical, and Practical Aspects
Sorenson, J.R., 1992. What we still don’t know about genetic screening and counselling. In: Annas, G.J., Elias, S. (Eds.), Gene Mapping: Using Law and Ethics as Guides. Oxford University Press, New York, pp. 203–214. Stern, A.M., 2005. Eugenic Nation: Faults and Frontiers of Better Breeding in Modern America. University of California Press, Berkeley, CA. Vogel, Motulsky, 2010. In: Speicher, Michael, Antonarakis, Stylianos E., Motulsky, Arno G. (Eds.), Human Genetics. Springer, Berlin Heidelberg, New York. Weil, J., Ormond, K., Peters, J., Peters, K., Biesecker, B.B., LeRoy, B., 2006. The relationship of nondirectiveness to genetic counselling: report of a workshop at the 2003 NSGC Annual Education Conference. Journal of Genetic Counselling 15 (2), 85–93. Wertz, D.C., 1997. Society and the not-so-new genetics: what are we afraid of? Some future predictions from a social scientist. Journal of Contemporary Health Law Policy 13, 299–346. Wertz, D.C., 1998. Eugenics is alive and well: a survey of genetic professionals around the world. Science in Context 11, 493–510. Wolff, G., Jung, C., 1995. Nondirectiveness and genetic counselling. Journal of Genetic Counselling 4, 3–25.
Relevant Websites https://www.eshg.org/139.0.html – European Society of Human Genetics. www.eurogentest.org; http://www.eurogentest.org/professionals/info/public/unit3/ regulations.xhtml; http://www.eurogentest.org/web/files/public/unit3/summary ofguidelinesMay06.pdf; http://www.eurogentest.org/web/files/public/unit3/ Results_of_survey_1_WP_3-1_Dec06.pdf; http://www.eurogentest.org/ professionals/info/public/unit3/final_recommendations_genetic_counselling. xhtml – Eurogentest. http://www.gfhev.de – German Society of Human Genetics, 1996. Position paper. http://www.who.int/genomics/publications/en/ethicalguidelines1998.pdf – World Health Organization, 1998. Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services. World Health Organization Human Genetics Programme, Geneva. http://www.who.int/genomics/elsi/gentesting/en/index.html – World Health Organization, 2012.
Abstract Genetic counseling refers to the totality of activities that (1) establish the diagnosis of genetic disease, (2) assess the occurrence risk, (3) communicate to the patient and family the chance of recurrence, (4) provide full and unbiased information within a caring relationship regarding many problems raised by the disease and its natural history, including the potential medical, economic, psychological, and social burdens, and (5) provide information regarding the reproductive options. The understanding and goals of genetic counseling as they evolved over the last century exemplify the substantial shift in understanding, determining, diagnosing, and handling of hereditary/genetic risks. At present, nondirective concepts have found broad, though not universal, acceptance.
Genetic counseling is one of the most important direct applications of human genetic knowledge. Genetic counseling refers to the totality of activities that (1) establish the diagnosis of genetic disease, (2) assess the occurrence risk, (3) communicate to the patient and family the chance of recurrence, (4) provide full and unbiased information within a professional caring relationship regarding many problems raised by the disease and its natural history, including the potential ethical conflicts as well as the medical, economic, psychological, and social burdens, and (5) provide information regarding the reproductive options to be taken, including prenatal diagnosis, and referral of patients to the appropriate specialists. Genetic counseling should offer guidance but will allow those being counseled to arrive at their own choices, both before and after genetic procedures (Vogel and Motulsky, 2010; World Health Organization [WHO], 2012).
Paradigm Development and Concepts of Genetic Counseling Prescientific knowledge of heritability in humans dates back to the early Greek physicians and philosophers, who presumably dispensed practical advice to individuals and couples as to how to use such knowledge (Vogel and Motulsky, 2010). The idea of an improvement of humankind by deliberate mate selection was a major aspect of ancient and Renaissance state and social utopias [Plato, Politeia (ca. 374 BC); Thomas More, Utopia (1516); Fra Tomaso Campanella, The City of the Sun (1623)]. In the medical literature of the eighteenth and nineteenth centuries, reports on the familial recurrence of particular disorders began to accumulate. An early and noteworthy example is the book by the English physician Joseph Adams (1756–1818), A Treatise on the Supposed Hereditary Properties of Diseases (1814), which attempts to lay out the fundamentals of genetic counseling for families affected by a genetic disorder. Toward the end of the nineteenth century, two paradigms established human genetics as a science. Gregor Mendel (1822–84) originated the concept of the gene as the basic factor
908
of inheritance (1866), while Francis Galton (1822–1911) introduced statistical methods to investigate and interpret the familial clustering of traits and thus founded the biometrical paradigm. Until the present, biometrics and Mendelian genetics have remained the basis of risk determination as the naturalistic component of genetic counseling. Galton coined the term ‘eugenics’ to mean the improvement of a population through measures to enhance propagation of individuals with supposedly high genetic qualities (positive eugenics) and discourage reproduction in those with undesired characteristics (negative eugenics). In Germany, around the turn of the twentieth century, Wilhelm Schallmeyer (1857–1919), Alfred Hegar (1830–1914), and Alfred Ploetz (1860–1940) developed the idea of negative eugenics–a concept of decreasing the number of offspring of individuals with supposedly belowaverage hereditary qualities, or of preventing congenitally diseased individuals from reproducing altogether, with the aim of improving the gene pool of future generations and especially that of the presumed superior Nordic race (see Ploetz, 1895). In many countries during the first half of the twentieth century, positive and negative eugenics formed the ideological basis of state-enforced measures to exert reproductive control over individuals. Between 1911 and 1930, 24 U.S. states proclaimed sterilization laws, and eugenic thought also played a role in the enactment of restrictive immigration laws. In Europe, Denmark was the first country to proclaim a Law on Genetic Hygiene (1929), in which voluntary sterilization for genetic reasons was regulated. In Germany, the Law for the Prevention of Congenitally Diseased Progeny (1933), followed by a series of other laws and decrees, mandated and organized the sterilization of individuals with certain diseases, which were thought to be genetically determined. In Germany, eugenics, racial hygiene, and National Socialist ideology formed a gloomy alliance. The involvement of German geneticists in coercive measures and eventually the Holocaust to sections of the population that were declared to be inferior has been well documented by Müller-Hill (1997). It is beyond doubt that this historical burden strongly influences the current debate on ethics and genetics in Germany and elsewhere.
International Encyclopedia of the Social & Behavioral Sciences, 2nd edition, Volume 9
http://dx.doi.org/10.1016/B978-0-08-097086-8.82024-3
Genetic Counseling: Historical, Ethical, and Practical Aspects
From about 1930 onward, the eugenic movement outside Germany began to lose power, but it was not until the 1950s that the population-directed eugenic orientation was slowly replaced by a medically oriented practice with genetic disease prevention as a major focus. Nevertheless, eugenic thinking, whether acknowledged or not, has continued to play a role until the present time, especially outside the Western world (Wertz, 1997). When, in 1947, Sheldon Reed coined the term ‘genetic counseling,’ it became clear that eugenics and what was then understood to be genetic counseling, were different entities. One historian (Stern, 2005) states that rather than clinical genetics being a complete departure from the eugenics movement, many of the concepts were retained, but the service was delivered in ways that enabled individual choice to be paramount. Clinical genetics differs in this sense from public health genetics, the focus of which is the improvement of the health of large populations in any public health setting. According to Reed, “genetic counseling is a type of social work entirely for the benefit of the whole family without direct concern for its effect upon the state or politics” (1974). This definition marks a change of paradigm in applied human genetics, away from the concern about the genetic makeup of the population and toward the attitude that decision making with regard to genetic risks should be left to the individual, even if this may create or increase social costs or be perceived as somehow worsening the gene pool. Thus, one of the fundamental ethical principles in medicine–respect for the autonomy and self-determination of persons–is also the cornerstone of genetic counseling. Genetics in relation to human health has thus gone through three overlapping historical phases (Table 1). First, the eugenics phase, mainly rooted in England, the United States, Scandinavia, and Germany, was based on the social and biological utopia of general mental and physical health and the optimization of humankind. In order to attain these goals, depending on political circumstances, directive measures including direct and indirect coercion were applied. Eugenics was scientifically ill founded, and the definition of inferior or superior genetic qualities was a matter of ideology. Second, the preventive-medical phase laid its emphasis on reducing individual suffering through prevention of genetic diseases and disabilities, in order to economize rare social welfare and medical resources. It was founded on the rational calculation that any means toward that end would find acceptance as being in the immediate interest of the individual. Strategies were those of benevolence, authority, and paternalism. Third, in the biopsychosocial phase, the focus of genetic counseling is to help the individual or the family to manage a problematic situation caused by genetic disease. The basis of
Table 1
909
this help is a complex interaction between the counselor (a specialized physician or a nonmedically trained expert) and the client (patient) in a nondirective process of communication. Help is provided with the understanding that genetic diseases are often associated with special psychosocial problems and ethical conflicts that should be addressed individually. Thus, any direct or indirect coercive influence is to be avoided. Nondirectiveness became a basic concept of genetic counseling (Wertz, 1997). However, genetic counselors have questioned the value of nondirective counseling from the patient’s perspective for several decades, as it was interpreted by some as an inability to support patients in their decision-making process, rather than a lack of coercion (Wolff and Jung, 1995; Kessler, 1997). Patients frequently seek some reassurance from the counselor that the course of action they propose to take would be reasonable, and good counseling practice includes the exploration of the values and beliefs of the client and support for a decision that would be consistent with those values (Weil et al., 2006; Bartels et al., 1997). In addition, it should be clear that better health outcomes are likely to ensue from particular decisions, for example, having a genetic test that would clarify the need for invasive clinical surveillance (Schwartz et al., 2012). Under these circumstances, it is clear that provision of accurate information about potential benefits or disadvantages of testing should be explained as part of the genetic counseling process and that identifying health benefits should not be seen as coercive. However, coercion may exist where the counselor clearly tries to influence the patient to confirm to his or her own views. The history of genetic counseling shows that its purpose has always been value-determined and has never been seen outside the context of social politics in which it was embedded. In countries that acknowledge human rights as defined in the democratic state theories of the eighteenth century, the only defensible position is that of the autonomy of the individual to make decisions regarding genetic counseling and genetic diagnosis, and to draw consequences for life and family planning. The health care system, on the other hand, carries the ethical obligation to provide full information and the tools that may enable the individual, depending on the state of knowledge, the emotional situation, and moral positioning, to make use of that information.
Excursus: Ethics and Genetic Counseling: The Respect for Personal Autonomy Today the term ‘eugenics’ is sometimes used to describe the cumulative result of individual choices after genetic counseling, especially in view of reproductive choices. The decreasing
Paradigm shifts in applied human genetics
Paradigm
Basis
Goal
Measure
Eugenics Prevention
Emotionally influenced social utopia Rational calculation
Directiveness, compulsion, coercion Paternalism
Psycho(socio)-biology
Complex interaction between counselor (doctor) and client (patient)
Improvement of the gene pool Reduction of individual suffering, economic distribution of resources Help in individual decision making
Empathy, nondirectiveness
910
Genetic Counseling: Historical, Ethical, and Practical Aspects
prevalence of births of children with Down syndrome in western Europe, especially in the UK, may be regarded as a result of individual choices to undergo prenatal diagnosis and subsequently to terminate a pregnancy after a positive test result. Whether this type of individual eugenics is a benign development and socially desirable has been discussed with some controversy by Wertz (1998). Critics argue that free, autonomous choices (after genetic counseling) not only depend on surrounding social, cultural, and other factors, but also on the full and honest presentation of information in genetic counseling–that is, on access to valid information. Informed consent can only be said to exist under three conditions: The patient is given the appropriate information; the patient is competent to make the decision; and there is no coercion involved (Beauchamp and Childress, 2001). In the absence of correct and unbiased information, free choices are not possible and are compromised, and information and genetic counseling become a means of furthering the attitudes and goals of health professionals. A worldwide survey of 2091 genetics professionals in 36 nations conducted by Wertz (Nippert and Wolff in Germany) suggests that eugenic thought underlies the perception of the goals of genetics and genetic counseling in many countries. In developing nations of Asia and eastern Europe especially, directive counseling is practiced to influence individual decisions. Intentionally pessimistically biased information is routinely provided after positive results from prenatal diagnosis in order to avoid the birth of affected children (Wertz, 1998; Cohen et al., 1997). The data from this survey suggest that the concept of nondirective counseling found in English-speaking nations and western Europe is an aberration from the rest of the world.
Table 2
Indications for genetic counseling
1. Birth of a child with congenital disease or disability 2. One or more relatives suffering from (suspectedly) genetic disease or disability 3. Affected counselee 4. Consanguineous couple 5. Recurrent miscarriage 6. Infertility 7. Mutagenic influences 7.1 Advanced maternal age 7.2 Pre- or postconceptional mutagen exposure 8. Teratogenic exposure 8.1 Infections 8.2 Drugs 8.3 Alcohol 8.4 Radiation
Concerns, including moral doubts, may have been raised, for example, by offers of prenatal screening (maternal serum marker and ultrasound screening), or carrier detection, within or outside the framework of a defined screening program because such offers may bring up the question of termination of the pregnancy.
The Counseling Process According to an initial definition issued by an Ad hoc Committee on Genetic Counseling of the American Society of Human Genetics, genetic counseling is a communication process that:
Indications for Genetic Counseling In medicine in general, a therapeutic activity is ‘indicated,’ when, after weighing the risks and benefits, it appears medically required. This definition is hardly applicable to genetic counseling because the recognition of risks and benefits of knowledge, as well as any actions that may result from such knowledge, will emerge only in the counseling process itself, and their appraisal is often more strongly determined by individual life circumstances than by medical judgment. On the other hand, the professionalization of genetic counseling as a specialization within medicine, and the need for correctness and completeness of any medical advice, have brought about a core service that every counselee may duly expect to receive: a scientifically founded statement regarding the etiology and the (recurrence) risk of a genetic condition, comprehensive information and counseling regarding diagnostic options, and referral to preventive, therapeutic, and/or socially alleviating measures. Generally speaking, an indication for genetic counseling is given whenever an individual regards it as a means to help solve a personal problem related to an existing or suspected genetic risk. Table 2 summarizes the most frequently encountered situations. With the increasing awareness and availability of pre- and postnatal methods of genetic diagnosis, individuals may find themselves unexpectedly receiving risk information about conditions of which they had previously been unaware.
.deals with the human problems associated with the occurrence or risk of recurrence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or the family to 1. comprehend the medical facts, including the diagnosis, the 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 options for dealing with the risk of recurrence; 4. choose the course of action which seems appropriate to them in view of their risk and their family goals and act in accordance with that decision; 5. make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder. (Fraser, 1974; Ad hoc Committee on Genetic Counselling, 1975)
However, developments in the profession resulted in a new definition of genetic counseling that involves an approach aimed at integrating the genetic information with other aspects of the client’s life and encompasses more of the educational aspects of the activity. According to members of a task force of the National Society of Genetic Counselors (Resta et al., 2006, p. 77), “Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: l
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Genetic Counseling: Historical, Ethical, and Practical Aspects l
Education about inheritance, testing, management, prevention, resources and research. l Counseling to promote informed choices and adaptation to the risk or condition.” The counseling process is usually initiated by clarifying the counselee’s motivation for consultation. What is the background to the problem, and what are the expectations? The counselor should explain, in general terms, what genetic counseling can achieve and where its limits lie. This is important because expectations are frequently unrealistic. It needs to be explained, for example, that it is technically not possible to exclude any kind of genetic risk or to guarantee a healthy child. The next step is to record the personal and family medical history in the form of a genealogical tree, encompassing at least all first- and second-degree relatives. This is followed by providing the family with information regarding the most important medical facts concerning the disease in question (natural history of the disease, the likely degree of suffering it may confer, its treatability) as well as the likelihood of its occurrence or recurrence. It is important to give unbiased, objective information. During the later phases of the counseling process, the counselor will often return to this information to relate it to the personal views of the counselee. The ‘prior’ risks for a genetic condition as deduced from its pattern of inheritance (monogenic dominant or recessive, autosomal or sex-linked, co-determined by several genes and/or the environment) may be modifiable by genetic diagnostic tests, other clinical test results, or other information (such as number of unaffected children in a family), so that a more precise risk figure emerges. Ever more often, with the near completion of sequencing and functionally annotating the human genome (Human Genome Project, 1997) and concomitant technical developments becoming routine practice, firm confirmation or exclusion of carrier status for any particular genetic disposition will be the rule rather than the exception. Nevertheless, the phenotypic outcome will often be variable, due to environmental factors, complex interactions between genes, and other ‘non-Mendelian’ genetic and epigenetic factors such as imprinting. In the counseling process, the resulting uncertainty needs to be explained and worked upon with great care. Without thoroughly understanding the chances and limits of genetic testing, an informed consent to any such procedure cannot be attained. Informed consent is generally held to be the prerequisite for any genetic testing, but as previously stated, the need for nondirectiveness in all situations is now questioned, even by potential users of the health service. A study by Martin et al. (2010) indicated that discussion among members of the public was more focused on individuals making choices rather than the principle of informed consent, although they did emphasize public education was a prerequisite to choice. They also expressed concern that coercion to be tested might stem from other members of family, rather than from health professionals. During the counseling process it may be necessary to make a physical examination of the counselee and/or of family members in order to search, for example, for early signs of a lateonset disorder or microsymptoms of a disease. The impact of such an examination needs to be explained beforehand because counselees and their family members may wish to help clarify
911
genetic risks for others, but not necessarily for themselves. It is sometimes difficult to decide to what extent information from the family history (such as risk for another condition that is apparent to the counselor but unsuspected by the counselee) needs to be discussed, if this information has not been central to the counselee’s motivation for consultation. This is particularly delicate when no therapeutic or preventive options exist. Where these options do exist, however, the counselee has a right to comprehensive information and counseling.
The Determination of Genetic Risks The determination of genetic risks in any individual case is the essential component of genetic counseling. It requires expertise in general and human genetics, including formal (mathematical) genetics, population genetics, and clinical genetics, as well as an awareness of novel developments, especially in the differential genetic diagnosis (attainable in this fast-moving field only through continuous further self-education). In the following discussion, we provide a summary of the most important groups of conditions in which a risk assessment is often sought and present a brief outline of risk provision. Often, the prior genetic risks need to be modified by using information from the pedigree or genetic tests (conditional probabilities). By employing Bayesian methodology, this information can be used to arrive at posterior (final) risks (Harper, 1998). If a disease is (mainly) due to the effect of a single gene, the phenotype may be inherited in a recessive or a dominant fashion. The disease may manifest itself in a sex-dependent way, if the causative gene is not located on the autosomes (the chromosomes shared by both sexes in equal number) but rather on the sex chromosomes (X and Y). In an autosomalrecessive condition, the recurrence risk in a sibship is 1/4, but usually low (less than 1%) for second-degree relatives. If a parent has an autosomal-dominant condition, there is a 50% chance that each child will also carry the disease-causing mutation. If neither parent has a condition that is known to be autosomal-dominant, the recurrence risk in a sibship is usually negligible, because the presumption is that a spontaneous mutation has occurred in the germ line leading to the affected individual. In X-linked recessive disease, if the mother is a carrier, half of all her sons will develop the full clinical picture, and half of her daughters will be carriers. Mothers and daughters are usually unaffected or exhibit symptoms to a lesser degree (due to nonrandomness of X-inactivation during early development). In Y-linked disease (such as subfertility), the trait is passed on from fathers to sons. In both recessive and, most notably, dominant conditions, the inheritance patterns may be obscured by variable penetrance (proportion of carriers manifesting the phenotype at all) and expressivity (degree of disease severity). Greatly reduced penetrance and expressivity–that is, where only a small fraction of carriers suffer from the condition–leads to the concept of genetic predisposition (susceptibility) for disease, which may be modulated by other genes or environmental factors. Polygenic and multifactorial inheritance are the etiology of most of the common diseases (such as coronary heart disease, obesity, and diabetes mellitus) and the majority of cases of birth defects. In these categories, empirical risk figures apply.
912
Genetic Counseling: Historical, Ethical, and Practical Aspects
Numerical chromosomal aberrations are usually sporadic, with a low empirical recurrence risk in a sibship, but they may also run in families (e.g., structural aberrations, such as translocations, which may be inherited as balanced or unbalanced in offspring in a more or less apparent Mendelian fashion).
Genetic Counseling in the Social Context How has genetic counseling and its supposed high standards fared in common practice? Throughout the world, the professional identity and training of providers of genetic counseling services varies. In Germany, for example, most counseling services are provided by physicians who are specialists in medical genetics (Nippert et al., 1997), while in many others (such as the United States, Canada, South Africa, Japan, France, the Netherlands, and the UK) a multidisciplinary team (including medical doctors, genetic counselors, and genetic nurses) is involved. While genetic counseling as an activity can be provided by professionals from a number of backgrounds, genetic counselors are specifically trained nonmedical professionals. A recent overview of the genetic counselor and genetic nurse in Europe (Cordier et al., 2011) indicated that differences in professional backgrounds and relative numbers of practitioners existed between countries. For example, in some European countries (e.g., France, the UK, Romania, Spain, and Portugal), genetic counselors are educated through a master’s program in genetic counseling, while in others no such program exists and practitioners may have a wide range of backgrounds, including laboratory genetics, nursing, or social work. In Europe, only the UK has a national system for registration of genetic counselors. In the United States and Canada specialist genetic counselors must complete an approved master’s degree in genetic counseling and be certified by the American Board of Genetic Counseling or the Canadian Association of Genetic Counselors, while a similar system exists in Australia and South Africa. Despite differences in education and background, a survey of 216 European genetic nurses and counselors showed that clinical practice was remarkably similar across countries (Skirton et al, 2013). The majority of respondents stated that they alone or with a medical colleague took responsibility for making the first contact with the family (87.9%), drawing the pedigree (85.2%), explaining a genetic test to the patient (79.5%), and providing psychological support through the testing process. Over 81% managed some cases without the input of a medical doctor. While published policies and guidelines on provision of genetic services have existed for some time (Fraser, 1974; German Society of Human Genetics, 1996; Andrews et al., 1994; WHO, 1998; Fryer and Lister Cheese, 1998; Holtzman and Watson, 1997), the type of information and the way information was communicated was found to vary within and between countries, and standard practices developed only slowly. Obviously, genetic counseling practices were shaped by the characteristics of the various health care systems, as well as by the personal characteristics of the counselor, such as sex, professional expertise, and type of employment. The process and outcomes of genetic counseling have been documented by a few empirical studies (Sorenson, 1992). Initially, outcomes
were defined primarily on the basis of patient knowledge and patient satisfaction (Clarke et al., 1996), but this has altered in recent years. Researchers now approach the topic in a holistic manner to determine the outcomes of importance to patients and professionals (Skirton, 2001, Skirton et al., 2005; McAllister et al., 2008a; 2008b). These studies have shown that genetic counseling can help individuals adapt psychologically to their circumstances and enhance their sense of empowerment. Concern has been voiced that in the future more counseling will be provided by professionals not trained in genetics. Although there is insufficient empirical evidence that genetic counselors successfully achieve autonomous, informed decision making, research from Europe and the United States suggests that nongeneticists do not set a high value on providing information that allows informed decision making before undergoing tests such as prenatal diagnosis (Dodds, 1997) or predictive testing (Burke, 2004). In recent years, an initiative to harmonize the standards and practices of genetic counseling was started within the EUfunded Network of Excellence ‘Eurogentest’ (www.eurogentest. org). It included a survey of legislation regarding genetic counseling in European member states (http://www. eurogentest.org/professionals/info/public/unit3/regulations. xhtml; Soini (2012)), a survey of international bodies including political institutions, professional organizations, ethical boards, and patient associations (http://www.eurogentest.org/ web/files/public/unit3/summaryofguidelinesMay06.pdf), and a survey among European National Societies of Human Genetics (http://www.eurogentest.org/web/files/public/unit3/ Results_of_survey_1_WP_3-1_Dec06.pdf). What emerged from these activities were the Eurogentest “Recommendations for Genetic Counseling Related to Genetic Testing” (http:// www.eurogentest.org/professionals/info/public/unit3/final_ recommendations_genetic_counselling.xhtml). These activities respond to a widely felt need for standardization of genetic counseling practice, thereby improving the quality of genetic counseling especially in the context of old and new genetic testing options. With the development of more new molecular tests, implementation of these tests in various fields of medicine is expected to drive the diversification of genetic counseling practice. While at present many general health care providers and nongenetics specialists do not have sufficient professional education and expertise in genetics, molecular testing, and genetic counseling to perform this task as shown by the European study on genetics education (Harris et al., 2006), there are certainly specialists in other areas who are providing effective and appropriate genetic counseling services and genetic testing in relation to their own fields. For example, in oncology, cardiology, and diabetes care, presymptomatic testing of those at risk has enabled resources, clinical surveillance, and treatment to be targeted at those who will benefit from them. However, there is an issue around provision of education for providers via medical curricula and continuing education. Genetic specialists are arguably the most valid source for providing the needed expertise and information for their medical colleagues to facilitate their understanding of basic genetic principles and the application of molecular testing, including pre- and post-test counseling, in clinical practice.
Genetic Counseling: Historical, Ethical, and Practical Aspects
However, the more genetics becomes part of general medicine and the more genetic testing is introduced into the various specialty areas, the more the task to provide information and to interpret test results will fall on primary care physicians and nongenetics specialists. Indeed, it could be claimed that primary care is the appropriate setting in which to utilize the power of genomic tests to create more truly personalized medicine (Gibbon, 2009). This requires greater genomics literacy among those health professionals in both secondary and primary care. In its Federal Act on Genetic Testing put into force in 2010, Germany, for example, has not only implemented a legal obligation for all medical doctors to recommend to their patients genetic counseling in the context of genetic testing but also to undergo training in genetic counseling themselves (via continuous medical education measures), unless they refer to specialized genetic counselors. Given that genetic test utilization is rising steeply (Schmidtke et al., 2005) and genetic centers are sparse and understaffed, such referrals may become restricted to complicated cases, while the majority of genetic counseling may be given from nongenetic specialists. The European Society of Human Genetics has recently published “Core Competences in Genetics for Health Professionals in Europe” (https://www.eshg.org/139.0.html), in which many of the skills currently expected from specialized genetic counselors are stated to be core competences in primary and secondary nongeneticist specialists’ care. These competences are already being adopted for use in preparing specialists in other settings (e.g., nurses working in hemoglobinopathy or inherited bleeding disorder clinics in the UK) to offer appropriate care to patients. Importantly, the core competences stress the need for appropriate information, patient choice, and ethical practice, whatever the clinical context in which genetic health care is offered. Most likely, the future of genetic testing and counseling will be shaped by economic interests; there is of course the need for financial returns on heavy investments made in the field of molecular testing, by reimbursement practices, and by the extent to which national health care policies will encourage genetic testing. It remains unclear whether the main ethical concepts attached to genetic counseling, such as nondirectiveness, individual autonomy, and greater equality in the doctor–patient relationship, will survive or will wither away during the integration of genetic tests into routine medical practice. Hopefully, genetic counseling will retain some of its best elements, namely, respect for patients’ rights to valid, nonslanted information and for patient autonomy in decision, making.
See also: Ethical Dilemmas, Research, and Access to Treatment; Ethics and Psychiatry; Eugenics, History of; Genetic Screening for Disease; Genomics, Ethical Issues In; Risk Screening, Testing, and Diagnosis: Ethical Aspects.
Bibliography Ad hoc Committee on Genetic Counselling of the American Society of Human Genetics, 1975. Genetic counselling. American Journal of Human Genetics 27, 240–242. Assessing genetic risks. In: Andrews, L.B., Fullarton, J.E., Holtzman, N.A., Motulsky, A.G. (Eds.), Implications for Health and Social Policy. National Academy Press, Washington, DC.
913
Bartels, D.M., LeRoy, B.S., McCarthy, P., Caplan, A.L., 1997. Nondirectiveness in genetic counseling. Journal of Genetics Counseling 72 (2), 172–179. Beauchamp, T.L., Childress, J.F., 2001. Principles of Biomedical Ethics, fifth ed. Oxford University Press, ISBN 0-19-514332-9. Burke, W., 2004. Genetic testing in primary care. Annual Review of Genomics and Human Genetics 5, 1–14. Clarke, A., Parsons, E., Williams, A., 1996. Outcomes and process in genetic counselling. Clinical Genetics 50, 462–469. Cohen, P.E., Wertz, D.C., Nippert, I., Wolff, G., 1997. Genetic counselling practices in Germany: a comparison between East German and West German geneticists. Journal of Genetic Counselling 6, 61–80. Cordier, C., Lambert, D., Voelckel, M.A., Hosterey-Ugander, U., Skirton, H., 2011. A profile of the genetic counsellor and genetic nurse profession in Europe. Journal of Community Genetics. http://dx.doi.org/10.1007/s12687-011-0073-x Published online 14 December 2011. Dodds, R., 1997. The Stress of Tests in Pregnancy: Summary of a National Childbirth Trust Screening Survey. National Childbirth Trust, London. Fraser, F.C., 1974. Genetic counselling. American Journal of Human Genetics 26, 636–659. Fryer, A.E., Lister Cheese, I.A.F., 1998. Clinical Genetic Services: Activity, Outcome, Effectiveness and Quality. The Royal College of Physicians of London Report from the Clinical Genetics Committee of the Royal College of Physicians of London, London. Gibbon, S., 2009. Genomics as public health? Community genetics and the challenge of personalised medicine in Cuba. Anthropology and Medicine 16 (2), 131–146. Harper, P., 1998. Practical Genetic Counselling, fifth ed. Butter-worth-Heinmann, Oxford, UK. Harris, R., Challen, K., Benjamin, C., Harris, H., 2006. Genetic education for nongeneticist health professionals. Community Genetics 9 (4), 224–226. Holtzman, N.A., Watson, M.S., 1997. Promoting Safe and Effective Genetic Testing in the United States. Final Report of the Task Force on Genetic Testing, Johns Hopkins University Press, Baltimore. Human Genome Project, http://www.ornl.gov/TechResources/Human_Genome/home.html Kessler, S., 1997. Psychological aspects of genetic counselling XI: nondirectiveness revisited. American Journal of Medical Genetics 72, 164–171. Martin, D.K., Greenwood, H.L., Nisker, J., 2010. Public perceptions of ethical issues regarding adult predictive genetic testing. Health Care Analysis 18, 103–112. McAllister, M., Payne, K., Macleod, R., Nicholls, S., Dian, D., Davies, L., 2008a. Patient empowerment in clinical genetics services. Journal of Health Psychology 13 (7), 895–905. McAllister, M., Payne, K., Macleod, R., Nicholls, S., Donnai, D., Davies, L., 2008b. What process attributes of clinical genetics services could maximise patient benefits? European Journal of Human Genetics 16 (12), 1467–1476. Müller-Hill, B., 1997. Murderous Science: Elimination by Scientific Selection of Jews, Gypsies and Others in Germany 1933–1945. Oxford University Press, Oxford, UK. Nippert, I., Horst, J., Schmidtke, J., 1997. Genetic services in Germany. European Journal of Human Genetics 5 (Suppl. 2), 81–88. Ploetz, A., 1895. Racial hygiene. In: Weingart, P., Knoll, J., Bayertz, K. (Eds.), Rasse, Blut und Gene. Frankfurt/Main. Suhrkamp, Germany. Resta, R., Biesecker, B.B., Bennett, R.L., Blum, S., Hahn, S.E., Strecker, M.N., Williams, J.L., 2006. A new definition of genetic counselling: national Society of genetic counselors’ task force report. Journal of Genetic Counselling 15 (2), 77–83. Schmidtke, J., Pabst, B., Nippert, I., 2005. DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002. Genetic Test 9, 80–84. Schwartz, M.D., Isaacs, C., Graves, K.D., Poggi, E., Peshkin, B.N., Gell, C., Finch, C., Kelly, S., Taylor, K.L., Perley, L., 2012. Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer 118 (2), 510–517. Soini, S., 2012. Genetic testing legislation in Western Europe – a fluctuating regulatory target. Journal of Community Genetics 3, 143–153. Skirton, H., 2001. The client’s perspective of genetic counselling - a grounded theory study. Journal of Genetic Counselling 10 (4), 311–329. Skirton, H., Cordier, C., Lambert, D., Lambert, D., Hosterey Ugander, U., Voelckel, M.A., O’Connor, A., 2013. A study of the practice of individual genetic counsellors and genetic nurses in Europe. Journal of Community Genetics 4 (1), 69–75. Skirton, H., Parsons, E.P., Ewings, P., 2005. Development of an audit tool for genetic services. American Journal of Medical Genetics 136 (2), 122–127.
914
Genetic Counseling: Historical, Ethical, and Practical Aspects
Sorenson, J.R., 1992. What we still don’t know about genetic screening and counselling. In: Annas, G.J., Elias, S. (Eds.), Gene Mapping: Using Law and Ethics as Guides. Oxford University Press, New York, pp. 203–214. Stern, A.M., 2005. Eugenic Nation: Faults and Frontiers of Better Breeding in Modern America. University of California Press, Berkeley, CA. Vogel, Motulsky, 2010. In: Speicher, Michael, Antonarakis, Stylianos E., Motulsky, Arno G. (Eds.), Human Genetics. Springer, Berlin Heidelberg, New York. Weil, J., Ormond, K., Peters, J., Peters, K., Biesecker, B.B., LeRoy, B., 2006. The relationship of nondirectiveness to genetic counselling: report of a workshop at the 2003 NSGC Annual Education Conference. Journal of Genetic Counselling 15 (2), 85–93. Wertz, D.C., 1997. Society and the not-so-new genetics: what are we afraid of? Some future predictions from a social scientist. Journal of Contemporary Health Law Policy 13, 299–346. Wertz, D.C., 1998. Eugenics is alive and well: a survey of genetic professionals around the world. Science in Context 11, 493–510. Wolff, G., Jung, C., 1995. Nondirectiveness and genetic counselling. Journal of Genetic Counselling 4, 3–25.
Relevant Websites https://www.eshg.org/139.0.html – European Society of Human Genetics. www.eurogentest.org; http://www.eurogentest.org/professionals/info/public/unit3/ regulations.xhtml; http://www.eurogentest.org/web/files/public/unit3/summary ofguidelinesMay06.pdf; http://www.eurogentest.org/web/files/public/unit3/ Results_of_survey_1_WP_3-1_Dec06.pdf; http://www.eurogentest.org/ professionals/info/public/unit3/final_recommendations_genetic_counselling. xhtml – Eurogentest. http://www.gfhev.de – German Society of Human Genetics, 1996. Position paper. http://www.who.int/genomics/publications/en/ethicalguidelines1998.pdf – World Health Organization, 1998. Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services. World Health Organization Human Genetics Programme, Geneva. http://www.who.int/genomics/elsi/gentesting/en/index.html – World Health Organization, 2012.