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Abstract
At a moment in history when globalization, pandemics, and the increasing divide between rich and poor constitute humanity's major preoccupations, what role is left for individuals, families and communities?
| Must genetic knowledge be passed on to blood relatives? |
I would maintain that although confronting these staggering challenges remains a priority, we must not neglect the ultimate source of change, that of each citizen within his and her family and community. Although rarely seen as a tool for social change or for greater equity in genomics, I would suggest that the availability of human genetic information will revolutionize not only the physician-patient relationship but also the social fabric of the modern nuclear family. Modern human genetics might well spur the recreation of the genealogical family and thus foster new obligations based on mutuality and not just on individual autonomy.
Nevertheless, fear of untoward socioeconomic and psychosocial consequences of genetic knowledge has spawned a decade of statements and guidelines underscoring the need to respect individual autonomy. Indeed, the rights to privacy, to medical confidentiality, and to what some have called "genetic ignorance" [1-3] have been reinforced by the genetic revolution. This is all the more paradoxical considering that genetic information is familial. For that reason, I argue that although the decision to be tested must be the sole perogative of the autonomous individual, due consideration should be given to the needs and interests of other family members. To that end, I propose that we begin to develop the principle of mutuality to promote the interests of others. This principle maintains the risk sharing and risk spreading. In the context of genetic research, testing, and information, how can it be interpreted? It could mean: (1) maintaining the status quo - that is, the principle of medical confidentiality and individual autonomy where the risks are minimal, or (2) an intermediary position of doing no harm or preventing harm through the promotion of an ethical duty on the part of the patient to warn at-risk relatives, or (3) through making it ethically permissible for physicians to warn at-risk relatives when certain conditions are present.
The Status Quo Position
| The patient may be the best judge. |
Since 1990, coinciding with the appearance of the first statements on the ethical implications of genetic testing, there has been an ethical and legal reinforcement of the duty of medical confidentiality. In the absence of a legislative exception, the maintenance of such secrecy is not only sacrosanct but is seen as essential to ensure the trust inherent in relationships of a fiduciary nature. Even this position does not go so far as to advocate total abstinence of communication. It limits itself, however, to attempting to persuade the patient to warn at-risk relatives even where the patient insists on full confidentiality [4]. Indeed, the relatives are in no worse position with the absence of warning because, strictly speaking, the patient does not "cause" the genetic risk. The patient might also be best situated to evaluate whether such at-risk relatives would want to know. This position, however, presumes that modern families are functional, live in close proximity and are aware of each other's values and lifestyle preferences. Furthermore, this status quo position totally ignores the unique character of genetic information and shields individualism (however ill- or well-motivated) from any form of familial or communal scrutiny. It is still the current norm, although increasingly attenuated by an intermediary position.
The Intermediary Position
| There is an ethical duty to warn relatives. |
The intermediary position places a positive duty on the physician not only to try to persuade the patient to communicate with at-risk blood relatives but also to warn patients of its potential familial implications before taking a genetic test. Indeed, this approach is strengthened in those countries, mainly those of the Napoleonic tradition, in which vestiges of this "duty to rescue" remain. Thus, the principle of to do no harm, together with the duty to rescue, would hold that there is an ethical duty on the patient to warn his/her relatives. Moreover, where patients do not want to exercise this ethical duty, the physician may do so with the patient's consent [5].
Although this approach lacks the certainty and clarity of the status quo position, it goes further in recognizing that the health and welfare of others might be at stake. Together with encouragement from the physician, it might well be sufficient in close families but, at best, it would be arbitrary and uneven in its exercise. Finally, owing to its discretionary nature, it could also become a tool of revenge in dysfunctional families. Absent some cultural or religious imperative, in reality, it might go no further than the status quo position. Hence, the past five years have witnessed a move away from both the status quo and the intermediary positions to that of mutuality.
The Position of Mutuality
| As a last resort, health professionals also have a duty to warn. |
Increasingly, patient and professional guidelines recognize and encourage an ethical duty to warn. In the position of mutuality, it is the health professional's duty to warn in cases where the patient refuses to do so. This discretionary duty or permission is not without certain parameters and continues to be seen as a last resort.
In the situation of repeated refusal by the patient, four conditions must be met before it is seen as ethically permissible for the physician to breach medical confidentiality: (1) the condition in question must be serious with (2) a high probability of occurrence, (3) in an identifiable blood relative(s) and (4) prevention or treatment must be available.
| Genetic information is collective, individual, and family property. |
In this way, a serious burden on others can be avoided. This position, however, in no way advocates a legal duty to warn. For now such ethical "permission" will at a minimum serve as a defence in a possible suit for breach of confidentiality [6]. Nevertheless, it seconds the position that between the human genome at the collective level being considered the common heritage of humanity and at the personal level as being unique and belonging to the individual, the information it contains is also familial. The adoption of this translation of the principle of mutuality with respect to genetic information will reinforce what the World Health Organizaton (WHO) has maintained with regard to DNA samples which it sees as subject to familial control [7].
In short, the very nature of genetic information, as both individual and universal, now mandates its treatment as familial. The future availability of inexpensive multiplex testing might allow routine individual knowledge of thousands of mutations and so lessen the need to warn at-risk relatives. However, at present, the acceptance of the principle of mutuality in the sharing of information in families (and hopefully one day in whole communities at risk), serves to reinforce the notion that we are literally our brothers' keeper. Finally, the sharing of genetic information could also serve to "normalize" it. If so, we can one day end the stigmatization and discrimination that is currently associated with genetic information and integrate it into modern medicine, as normal medical information in more caring and sharing families.
Susan Wolsborn is Web designer of HMS Beagle.
The Impact of the Human Genome Project on Medical Genetics - raises the issues of genetic discrimination, genetic privacy, and appropriate legislation. From Trends in Molecular Medicine, 2001, 7:5:229-231. Full text available from BioMedNet.
Pharmacogenomics: Out of the Lab and into the Community - discusses some of the ethical, legal, and social issues. From Trends in Biotechnology, 2001, 19:12:519-523. Full text available from BioMedNet.
Genetic Testing and Insurance: Opportunities and Challenges for Society - considers issues such as confidentiality, patient autonomy and fear of discrimination, and the physician-patient relationship. From Trends in Molecular Medicine, 2001, 7:7:323-324. Full text available from BioMedNet.
Who Owns Your Body? Legal Issues on the Ownership of Bodily Material - examines ethical and legal issues. From Trends in Molecular Medicine, 2002, 8:1:48-49. Full text available from BioMedNet.
Professional Disclosure of Familial Genetic Information - a report prepared by the American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure.
Genetic Medicine and the Practicing Physician - includes a section on the Ethical, Legal, and Social Implications of Genetic Medicine: Privacy and Confidentiality: Disclosure of Familial Genetic Information. From an American Medical Association and the National Human Genome Research Institute sponsored conference held March 13-15, 1998 in New Orleans.
Genetics and Disease Prevention - a conference guide to the Centers for Disease Control's Second National Conference on Genetics and Disease Prevention held December 6-8, 1999 in Baltimore, Maryland. Includes a summary of societal issues such as Psychological and Familial Impact.
Privacy in Genetics Research - an article from the August 27, 1999 issue of Science.
Bioethics for Clinicians: Ethics and Genetics in Medicine - an article from the May 19, 1998 issue of the Canadian Medical Association Journal.
National Bioethics Advisory Committee - a collection of reports and information on ethical concerns.
Bioethics.net - contains introductory and in-depth articles. Maintained by the University of Pennsylvania Health System's Center for Bioethics, an educational group whose mission is to advance scholarly and public understanding of ethical, legal, social, and public policy issues in health care.
Human Genome Project Information - offers information, news, publications, and extensive resources including sections on Ethical, Legal and Social Issues and Genetics Privacy and Legislation.
Bioethics Resources on the Web - contains a broad collage of annotated Web links. From the National Institutes of Health.
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