Genetic Counseling, Ethical Issues in
GENETIC COUNSELING, ETHICAL ISSUES IN•••
Genetic counseling is a complex communication process that takes place between a genetic counselor and one or more counselees, also called clients. It may involve a single encounter lasting thirty to sixty minutes or multiple encounters over months or years. The type and duration of the encounter is determined by the nature of the condition that led to the encounter. This includes whether the condition under discussion is genetic or nongenetic, the mode of inheritance, and the severity of the disorder, including its prognosis. Therapeutic and reproductive implications play a significant role as well as the counselor's evaluation of the effectiveness of the counseling encounter.
Effective and helpful genetic counseling should be guided by several ethical principles and human values judged by most workers in the field to be of vital importance (Wertz et al.). These include autonomy; beneficence and nonmaleficence; confidentiality; veracity and truth-telling; and informed consent. It is also crucial that varied cultural and ethnic factors be taken into account. The professional code of ethics for genetic counselors should also be considered (Palmer).
Since genetic counseling usually occurs in medical settings such as clinics, medical centers, or private offices, the ethical values that prevail in medical and nursing practice should also play a role in genetic counseling. These principles or values influence different aspects of the counseling process to different degrees. Their influence may also vary according to the cultural background, ethnicity, or religious beliefs of the counselees and their families. The latter factors should receive serious attention, since cultural, religious, or ethnic differences can profoundly influence the relative weight given to one value or principle over another. This is especially true when counseling involves individuals from other countries (Wertz et al.). Counselees from the so-called Third World may cherish religious tenets and ethical values drastically different from those of the Jewish and Christian faiths that inform so much of Western medical ethics (Fisher).
Autonomy and Nondirectiveness
A major facet of the counseling process, and one important goal of a successful counseling process, is a course of action (or inaction) that is determined according to the best available evidence. Genetic counselors generally agree that this decision should be made by the counselee, and that it should be made freely and without coercion (Fraser, 1974; Ad Hoc Committee on Genetic Counseling). Counselors want to avoid, to the extent possible, being accused of "playing god" and to resist any temptation to practice eugenics, the process of manipulating genes in order to "improve" genetic makeup. The manipulation is accomplished by directing the counselees about what reproductive decisions they should or should not make. This is inappropriate because respect for autonomy should be a predominant ethical value guiding the counseling process and its outcome. This is the clear consensus of genetic counselors from all over the world (U.S. President's Commission; Wertz and Fletcher).
If counselees are to make autonomous decisions, they must be fully informed about the disorder in question, free of coercion, aware of all the possible choices, and have access to any facilities and/or services to implement their decision. In its purest sense and with only rare exceptions, the nature of the decision is not an issue as long as the counselee has decided that such a decision is in her or his best interest. In this model of counseling the counselor makes every effort to be "nondirective," that is, to refrain as much as possible from providing any suggestion directly or indirectly to the counselee as to what decision she or he should make (Fraser, 1974, 1979; Hsia). No counselor can be totally unbiased and without any interest in the decision that is made. However, the aim in counseling is to create "an accepting psychologic climate" and thereby the possibility of a nondirective relationship (Antley).
An ethical dilemma may arise for the counselor if the counselee wants to make a decision that will have what the counselor strongly feels are mostly negative consequences. For example, a man and a woman are both affected by a serious homozygous recessive disorder (e.g., sickle-cell anemia) and are advised that all their children will be similarly affected. After being counseled, and with full knowledge of the genetic consequences, they decide to have their own biological children. This kind of decision is called dysgenic by some, because it has the potential of resulting in an increase in the number of deleterious genes in the next generation. This will be true if the couple has more than two children and they in turn live to reproduce in an environment where these genes have no selective advantage. Some counselors feel that the counselor may be justified in not honoring the principle of nondirectiveness because the net reproductive effect is likely to produce more harm than benefit (Yarborough et al.). It further results in a situation in which children who are destined to live a life of pain and suffering are knowingly brought into the world. Furthermore, there is the possibility of genetic harm to this population if this practice becomes more common. These harms must be balanced against the benefit to these parents of having their own biological children, even if these children are much more likely to suffer or to die an early death.
The counselor who feels that the principle of nondirectiveness ought not be violated under any circumstances should at least explore with the counselees the psychosocial and emotional reasons that led them to this decision. The counselor should assist them in a careful and deliberate examination of the benefits and harms that may effect them and their offspring (Kessler). Strong arguments have been advanced suggesting that by applying the principle of beneficence, the counselor is justified in attempting to persuade counselees to reconsider their decisions in certain cases without violating the rule of nondirectiveness (Yarborough et al.).
Beneficence/Nonmaleficence: Whose Needs Come First?
When the counselee is trying to balance the benefits and harms of a particular decision against one another, there may be a tendency to emphasize the benefits over the harms. In some cases, the benefit or beneficence for the counselee (s) may mean maleficence or harm for the child. If parents who know they will have a child with a serious genetically determined disease decide to go ahead because they believe they have a "right to bear children," they may benefit in having their own biological children. At the same time they might not be judged "responsible parents" because they may not have given serious enough consideration to the suffering and discomfort their offspring will suffer. Even if this factor has been considered, the parents may justify their decision on the religious grounds that they are merely following the dictates of a higher power, leaving it to God to determine whether or not they have children.
In some cases it may be difficult for counselor and counselee to agree on what constitutes a benefit and what a harm, since such determinations are often rather subjective, governed primarily by the counselee's values. For example, abortion of an affected fetus might be considered a benefit to some and harmful to others, depending on whose needs are considered primary. Providing information that there is a high probability that a counselee at risk to inherit a serious genetically determined disease of late onset has in fact inherited it might seem a beneficent act by some who value knowledge of any sort, and a maleficent or harmful act by others who value information only when it leads to the prevention or correction of harm. In the tension between these contrasting ethical principles, medical ethical tradition suggests that nonmaleficence should be weighted more heavily than beneficence in cases where they are in conflict. This position is consistent with the maxim of primum non nocere, first do no harm (Beauchamp and Childress), since providing information without clear benefit has the potential for causing social and emotional harm.
Veracity and Truth-telling in Genetic Counseling
A major part of the genetic counseling process is the exchange of information about the medical and family history provided by the counselee and comprehensive genetic and medical information about the disease in question provided by the counselor (Fraser, 1974; Hsia). The counselee needs accurate information, including the correct diagnosis, in order to choose a beneficial course of action. Truth-telling is an essential ingredient of the relationship between genetic counselors and counselees. Part of the trust that exists between them is based on this virtue. As a consequence, the genetic counselor should provide truthful, accurate, and complete information to the counselee concerning the genetic disorder being considered.
On some occasions the genetic counselor might have very good reasons for violating this important trust. Failure to tell the truth will most often involve withholding information rather than lying. But the counselor bears the burden of justifying failure to tell the whole truth. This is the case even if the counselor is keeping back some information until a time when it may be more readily received, that is, when the counselee is judged to be better prepared to accept negative information and its attendant consequences. Some reasons that might be given for holding back information include:
- The information, if transmitted, is likely to cause permanent damage to the self-image of the counselee or result in a serious or severe emotional reaction. This is the case when a female is found to have an XY sex chromosomal constitution rather than the normal XX sex chromosomes.
- Refraining from transmitting the information will not have a significant effect on the options open to the counselee or her or his family nor will it compromise any therapy the counselee or the family should receive.
- The counselee has a history of serious depression and the information, if fully given, has a good chance of exacerbating the depression with a significant risk of suicide.
- The information reveals evidence that the putative father in a family is not the biological father of a particular child; if this information is provided, it is likely to lead to the breakup of the family and the child will no longer have a father.
- A young man or woman has been found to be a presymptomatic carrier of a late-onset, autosomal (related to chromosomes that are common to both sexes), dominant condition and does not want a fiance to be told because it is feared she or he might break off the relationship.
The latter two cases, in which information is withheld from third parties, raise the question of the counselor's obligation or "duty to warn" others who might be affected by the presence of the genetic condition in a spouse or significant other. For some counselors, the "right to know" or the "duty to warn" provides strong justification for telling the whole truth at all times during the counseling process, regardless of the potential consequences. At the same time, a minority of counselees feel they have a right "not to know." These people would rather not be told about a serious genetic condition of late onset, especially if there is no effective therapy or other maneuver that will forestall its onset or significantly reduce its symptoms. If counselees do not wish to know about their incurable condition, the information may nevertheless have to be placed in the medical record so that future health-care givers will be alert to the counselee's status. The information can also be provided if counselees should change their minds. In general, genetic counselors will withhold information only where there is a strong likelihood for serious harm to the family or to the self-image or status of the individual (Wertz et al.).
Confidentiality and the Control of Genetic Information
Medical genetics is more concerned with the family than almost any other medical subspecialty. As part of the evaluation of a clinically significant genetic disorder, the genetic counselor is required to collect detailed family data and record it in the form of a pedigree. This enables the counselor and the medical geneticist to determine whether there is a pattern of occurrence in the family consistent with control by a single gene of major effect (often referred to as a "Mendelian" gene). The pedigree may also provide information that may indicate the presence of inherited chromosomal structural rearrangements called translocations. More often than not, the pedigree information is insufficient to make this determination. But when it does demonstrate the presence of an inherited defect, this knowledge can have serious, even grave, implications for the other genetically related members of the family. This is especially true when one is dealing with conditions that demonstrate autosomal or X-linked dominant or X-linked recessive modes of inheritance, because inheritance of a single mutant gene on an X or non-X chromosome can cause the full-blown clinical disorder.
Under the medical model that governs medical geneticists and genetic counseling, the counselee has the status of a patient. All information relative to his or her case is covered by the guarantee of privacy and confidentiality that is required of health professionals (Beauchamp and Childress). The medical geneticist or genetic counselor should get permission from the counselee to contact other family members to inform them that they are at risk for a serious genetically determined disorder. In general, this is not a problem; most counselees readily consent to having their relatives contacted or are willing to do this themselves. But in at least two instances the genetic counselor may face an ethical dilemma concerning the release of information to third parties.
- The disorder is not treatable and can be diagnosed by prenatal diagnosis, so a couple at risk could theoretically avoid the birth of an affected child; or individuals at risk for this might wish to take special predictive tests and use the knowledge to get their affairs in order or in other ways to alter their life situation.
- The disorder is treatable and can be cured or can have the symptoms and any complications significantly reduced by safe and readily available therapy; or the expression of the disorder can be prevented if it is detected before the symptoms have appeared.
The obligation to maintain confidentiality of patient records and genetic information obtained in a medical setting is not absolute and may be breached when there is adequate justification. The exceptions may be invoked only if there are extenuating or overriding personal or social circumstances. The State of Texas statute on confidentiality, for example, allows confidential information to be disclosed if there is the probability of imminent physical injury to the patient or others (Andrews). In the case of genetic disorders, the most compelling argument for breaching confidentiality besides those instances where it is required by law is the protection of third parties from harm (Andrews). In ethical terms this is sometimes cited as "the duty or obligation to warn" when there is a clear or imminent danger.
In the cases shown above, there would appear to be clear justification for breaching confidentiality in the second case but not in the first. In the first example, useful information might be provided to third parties, but there is no evidence of harm because the condition identified is not treatable. In the second example, the fact that there is a treatment or a method of preventing the condition means that failure to warn would result in harm to a third party. Since the burden of justification would be on the genetic counselor to show that the harm, however, conceived, is correctable or preventable, it makes sense not to breach confidentiality in instances where the potential harm is not clearly defined. The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research regarding confidentiality provided four conditions under which the requirements of confidentiality can be overridden and genetic information released to relatives or their physicians (1983).
Revealing genetic information, especially in cases of presymptomatic diagnosis, has other important implications for the counselee's eligibility for health insurance and possibly for life insurance. Depending on the condition involved, such information if revealed can also affect employability and opportunities for promotion. There is always a significant risk that sensitive information, if released, may find its way to individuals or agencies that might harm the counselee in the future.
Informed Consent in Genetic Counseling
Since a major component of genetic counseling is communication of information, and since the counselee is encouraged to make her or his own decision, problems or conflicts with informed consent are unusual. Informed consent is especially relevant in the counseling process when a procedure may result in potentially harmful or ambiguous outcomes, for example:
- in connection with prenatal diagnosis, when the counselee or woman who is to undergo the test needs to understand its risks, benefits, errors, and limitations;
- as a prelude to presymptomatic testing for a serious disorder without available treatment or methods of prevention, where a positive result can have profound implications for the individual's future life;
- in connection with participation in a research protocol in which there may be questions about the future use of data or tissue or blood (especially DNA) in future studies or in the search for other genetic markers.
Ethnic and Cultural Influences
The population of the United States and many other industrialized nations is becoming more diverse. It is estimated that by the year 2010 nearly one-third of the population of the United States will be made up of minorities. Genetic counseling that promotes individual autonomy and is consistent with the ethical values discussed here will require that counselors be aware of and responsive to a wide and growing range of ethnic and cultural variations among those who are now and will be seeking genetic counseling (Fisher). Conflicts are almost certain to arise when the values and decisions of the ethnically and/or culturally different counselees conflict with those of the counselors and the Western values derived from Jewish and Christian sources that in general govern the decision-making process. The value systems that have been used traditionally in counseling will probably have to be applied in significantly different ways if the process and outcome of counseling is to be helpful and effective.
robert f. murray, jr. (1995)
SEE ALSO: Access to Healthcare; Autonomy; Beneficence; Confidentiality; Eugenics; Family and Family Medicine; Genetic Counseling, Practice of; Genetic Testing and Screening; Health Insurance; Professional-Patient Relationship; Responsibility
Andrews, Lori B. 1987. Medical Genetics: A Legal Frontier. Chicago: American Bar Foundation.
Antley, Ray M. 1979. "The Genetic Counselor as Facilitator of the Counselee's Decision Process." In Genetic Counseling: Facts, Values and Norms, pp. 137–168, ed. Alexander M. Capron, Marc Lappé, Robert F. Murray, Jr., Tabitha M. Powledge, Sumner B. Twiss, and Daniel Bergsma. National Foundation-March of Dimes Birth Defects Original Article Series, 15(2). New York: Alan R. Liss.
Bartles, Dianne M.; Leroy, Bonnie S.; and Caplan, Arthur L., eds. 1993. Prescribing Our Future: Ethical Challenges in Genetic Counseling. Hawthore, NY: Aldine de Gruyter.
Bosk, Charles L. 1992. All God's Mistakes: Genetic Counseling in a Pediatric Hospital. Chicago: University of Chicago Press.
Clarke, Angus, ed. 1994. Genetic Counseling: Practice and Principles (Professional Ethics). London: Routledge.
Fisher, Nancy L. 1992. "Ethnocultural Approaches to Genetics." Pediatric Clinics of North America 39(1): 55–64.
Fraser, F. Clarke. 1974. "Genetic Counseling." American Journal of Human Genetics 26(5): 636–659.
Fraser, F. Clarke. 1979. "Introduction: The Development of Genetic Counseling." In Genetic Counseling: Facts, Values and Norms, pp. 5–15, ed. Alexander M. Capron, Marc Lappé, Robert F. Murray, Jr., Tabitha M. Powledge, Sumner B. Twiss, and Daniel Bergsma. National Foundation-March of Dimes Birth Defects Original Article Series, 15(2). New York: Alan R. Liss.
Hildt, Elisabeth. 2002. "Autonomy and Freedom of Choice in Prenatal Genetic Diagnosis." Medicine, Health Care, and Philosophy 5(1): 65–71.
Hsia, Y. Edward. 1979. "The Genetic Counselor as Information Giver." In Genetic Counseling: Facts, Values and Norms, pp. 169–186, ed. Alexander M. Capron, Marc Lappé, Robert F. Murray, Jr., Tabitha M. Powledge, Sumner B. Twiss, and Daniel Bergsma. National Foundation-March of Dimes Birth Defects Original Article Series, 15(2). New York: Alan R. Liss.
Kessler, Seymour. 1979. "The Genetic Counselor as Psychotherapist." In Genetic Counseling: Facts, Values and Norms, pp. 187–200, ed. Alexander M. Capron, Marc Lappé, Robert F. Murray, Jr., Tabitha M. Powledge, Sumner B. Twiss, and Daniel Bergsma. National Foundation-March of Dimes Birth Defects Original Article Series, 15(2). New York: Alan R. Liss.
Oduncu, Fuat S. 2002. "The Role of Non-Directiveness in Genetic Counseling." Medicine, Health Care and Philosophy 5(1): 53–63.
Palmer, Shane. 1992. "Guiding Principles, Resolutions, Clarify Stance." Perspectives in Genetic Counseling: Newsletter of the National Society of Genetic Counselors 14(1): 1, 4–5.
Patenaude, Andrea Farkas; Guttmacher, Alan E.; and Collins, Francis S. 2002. "Genetic Testing and Psychology. New Roles, New Responsibilities." American Psychologist 57(4): 271–282.
Suter, Sonia M. 1998. "Value Neutrality and Nondirectiveness: Comments on Future Directions in Genetic Counseling." Kennedy Institute of Ethics Journal 8(2): 161–163.
U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. 1983. Screening and Counseling for Genetic Conditions. Washington, D.C.: Author.
Wertz, Dorothy C., and Fletcher, John C. 1988. "Attitudes of Genetic Counselors: A Multinational Study." American Journal of Human Genetics 42(4): 592–600.
Wertz, Dorothy C.; Fletcher, John C.; and Mulvihill, John J. 1990. "Medical Geneticists Confront Ethical Dilemmas: Cross-Cultural Comparisons Among Eighteen Nations." American Journal of Human Genetics 46(6): 1200–1213.
White, Mary Terrell. 1997. "'Respect for Autonomy' in Genetic Counseling: an Analysis and a Proposal." Journal of Genetic Counseling 6(3): 297–313.
White, Mary Terrell. 1999. "Making Responsible Decisions. An Interpretive Ethic for Genetic Decision-making." Hastings Center Report 29(1): 14–21.
Willer, Roger A., ed. 1998. Genetic Testing and Screening: Critical Engagement at the Intersection of Faith and Science. Minneapolis, MN: Kirk House Publishing.
Williams, Clare; Alderson, Priscilla; and Farsides Bobbie. 2002. "Is Non-directiveness Possible Within the Context of Antenatal Screening and Testing?" Social Science and Medicine 54(3): 339–347.
Yarborough, Mark; Scott, Joan A.; and Dixon, Linda K. 1989. "The Role of Beneficence in Clinical Genetics: Nondirective Counseling Reconsidered." Theoretical Medicine 10(2): 139–149.