By Mary Kay Z. Pelias, Ph.D., J.D.
Over the past century, the world of biomedical science has enjoyed an exponential growth of technologies that now permit the molecular dissection of the human genome and the treatment of an expanding array of devastating genetic diseases. As the technological powers of health care have generated potential benefits, practitioners in medical genetics and genetics research have studied a plethora of ethical, legal, and social issues related to the applications and implications of new knowledge about hereditary health problems. At the interface of technology and its applications and implications are questions derived from concepts of personal autonomy, personal privacy, and confidentiality of genetic information. Also at this interface are concerns about making the new benefits available across the human population as a matter of public health. Out of these broad concerns have developed newborn screening programs that confer immense benefits to individuals, to families, and to society.
The ethical principles of personal autonomy, personal privacy, and confidentiality of personal information now constitute the foundation of the practice of medicine. The principle of personal autonomy is understood as decisional privacy, or the right of an individual to make his or her own decisions, without duress or coercion, about which medical or other options to pursue. The concept of personal privacy protects individuals within the private sphere of the body so that others are constrained from touching or viewing the person inappropriately. Privacy of information includes respect for confidentiality of personal information that is exchanged within the professional-patient relationship, thus assuring candor in communication and resulting in accrual of benefits to the individual. Respect for these three facets of privacy is the basis of principles that govern the practice of medical genetics and genetic counseling.
The doctrine of informed consent developed from principles of personal autonomy and personal privacy. One branch provided standards of conduct in the practice of medicine and surgery, and the other branch developed the principles of conduct in biomedical research. The principle of informed consent in the professional-patient relationship grew out of an expanded array of options that became available in medicine and surgery early in the 20th century. As patients became more aware of their options, they became quick to allege negligence when professionals failed to present all options that a patient might choose to pursue. Over a series of medical malpractice cases in the common law, patients acquired the right to hear all "material" information before deciding which course of treatments, if any, to pursue, with "material" defined as any information that could cause the patient to choose another course. The principle of informed consent in biomedical research grew out of numerous experimental regimes, carried out over the course of the 20th century, both in the United States and elsewhere, without the knowledge or consent of the individual subjects. The rules for informed consent in biomedical research were first promulgated in the "Nuremberg Code" and later in the "Declaration of Helsinki" and the "Belmont Report," and they were ultimately codified in the "Code of Federal Regulations." Informed consent in biomedical research is valid only if the subject is competent and understands information about the research, its risks, benefits, and alternatives, with assurances about confidentiality and the subject’s right to withdraw. Federal regulations also include special provisions for protecting vulnerable populations, including pregnant women, children, and prisoners. These principles now influence every aspect of the practice of medical genetics and genetic counseling and all phases of research in human and medical genetics.
The advent of newborn screening for phenylketonuria in the 1960s ushered in the era of treatment for some infants who are born with devastating genetic diseases. Simple, reliable, inexpensive tests permit the early identification of serious genetic diseases that can then be managed for the benefit of the infant, in terms of normal, or nearly normal, development or health, and for the benefit of society, in terms of the public fisc. Several drops of blood samples are collected shortly after birth, blotted and dried on personally identified cards, and sent to screening laboratories for testing. Most States have legislated mandatory screening so that these samples can be gathered and tested without formal parental consent. Cards with surplus blood spots are retained, with identifiers, in laboratories for varying periods defined by State law. Debate over the past four decades about mandatory screening has weighed the negative invasion of privacy and parental autonomy against the positive benefits of screening, and all but two States have favored mandatory screening because of the immense benefits that are realized when infants are detected and treated early in life. Only two States require parental consent before samples are collected from the infant. Most States have loose provisions for telling parents about screening and for permitting parents to opt out for religious reasons. However, mandatory screening is so rigid in two other States that parents who refuse testing are subject to criminal penalties. The immense success of newborn screening programs reinforces and supports legislative decisions to screen for certain diseases without parental consent.
Over the past decade, technical developments in molecular genetics have opened the door for vastly expanded research into the structure and function of countless genes. As the new technologies expand the power of research, genetics professionals have inquired about the possibility of using minute bits of dried blood from newborn screening samples to conduct research in medical and molecular genetics. The push to gain access to newborn screening samples has generated new debate about the appropriate use of samples that are collected without parental consent. Some professionals have noted that samples collected in the past were legally separated from the donors at the time of collection and should therefore be available to researchers on request. Others have carefully argued that these samples may be used for future research only after parents are recontacted for specific consent for specific research projects. Others have argued that these samples should be available to any researchers provided the samples are stripped of identifying information.
The middle ground in using new collections of newborn screening tissue samples for present and future research may lie in establishing a protocol for mandatory screening, followed by a request for parental consent for future use of samples if the samples are likely to be sought for genetics research. The undeniable benefits of newborn screening justify continued mandatory programs so that parental consent for screening is not a critical factor. Decisions about future use in unspecified genetic research and tests should, however, rest with the donors of the samples or their parents. A short protocol of six simple, dichotomous questions could be presented to parents. These questions address the use of samples, with or without identifiers, with or without the option for being notified about the development of significant new information. The protocol could provide for reciprocity or responsibility in following up on any new developments. This protocol protects families as the persons who may have a significant interest in future developments, and it also protects the researcher without imposing an undue burden.
New technologies are expanding the interests of individuals, families, and genetics professionals. Achieving an acceptable balance among ethical principles and professional activities is a challenge that can be resolved by acknowledging that everyone has a stake in genetic information that is developed now and in the future.
- American College of Medical Genetics Storage of Genetics Materials Committee. ACMG statement: statement on storage and use of genetic materials. Am J Hum Genet 1995;57:1499-500.
- American Society of Human Genetics. ASHG report: statement on informed consent for genetic research. Am J Hum Genet 1996;59:471-4.
- Francke U. Response to National Bioethics Advisory Commission on the ethical issues and policy concerns surrounding research using human biological materials. http://www.ashg.org/pdf/policy/ASHG_PS_January1999.pdf (PDF - 70 KB) (1999).
- Pelias MZ. Informed consent and the use of archived tissue samples. In: Freeman SB, Hinton CF, Elsas LJ, editors. Genetic Services: Developing Guidelines for the Public’s Health. Atlanta (GA): Emory University School of Medicine, The Council of Regional Networks for Genetic Services; 1996. p.152-9.
- U.S. Department of Energy, Office of Health and Environmental Research. Human subjects research handbook, 2nd ed. (no date).
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