Research in human genetics: the tension between doing no harm and personal autonomy.

The physician-patient relationship was governed for centuries by the ethical principle of beneficence and the physician's dedication to the principle of doing no harm. This structure shifted, however, to the principle of personal autonomy as medical and surgical knowledge expanded and patients, rather than physicians, became the locus of decision-making authority. In biomedical research in the United States, however, beneficence of the research professional remained dominant until a spectrum of doubtful research practices was made public in the 1970s and thereafter. Over the past three decades, state and federal governments have instituted regulations that provide increased protections for human research subjects, although research results are rarely shared with subjects because of the provisional nature of unconfirmed laboratory results. Now, however, genetics researchers and others suggest that subjects may well have an interest in present and future results, even though provisional. These issues are presently under discussion and may eventually open new possibilities for sharing research information with subjects who wish to be informed.

Knowledge, attitudes, and interest in breast-ovarian cancer gene testing: a survey of a large African-American kindred with a BRCA1 mutation.

BACKGROUND: This study assessed counseling and testing needs from the perspective of adult members of a large African-American kindred with a BRCA1 mutation. METHODS: Interviews were conducted with 95 male and female kindred members to elicit information on sociodemographics, attitudes toward health care providers, breast cancer screening behaviors, and religious/spiritual beliefs, as well as to evaluate psychological distress, beliefs, knowledge, and attitudes related to genetic testing. RESULTS: Knowledge about breast and ovarian cancer genetics was limited. Adherence to screening recommendations was low among females with no personal breast or ovarian cancer history. The majority (67%) wished to discuss risk factors with a health care provider. Most participants (82%) indicated that they would have a genetic test if it were available. Significant predictors of intent to undergo testing were having at least one first-degree relative with breast and/or ovarian cancer (OR = 5.1; 95% CI = 1.2-20.9) and perceived risk of being a gene carrier > or =50% (OR = 64.3; 95% CI = 5.1-803.9) or reporting that they did not know their risk of being a gene carrier (OR = 10.9; 95% CI = 2.1-57.7). Cited barriers to testing included cost and availability. CONCLUSION: There is a high interest level in genetic testing despite limited knowledge about cancer genetics among these high-risk African Americans. Our study provides information for designing a genetic education and counseling intervention for this and similar families.

Newborn screening, informed consent, and future use of archived tissue samples.

Recent advances in genetic technologies have combined with established protocols for genetic screening to provide immense benefits to individuals and the public. In most American jurisdictions, newborn screening is mandated by law and does not require parental consent for the collection or testing of the blood samples. Screening programs have been successful in identifying affected infants at an early stage for effective treatment of some genetic diseases. The public health benefit of screening programs is recognized and affirmed. However, collections of surplus, stored samples have become immensely attractive to researchers in medical genetics and the biomedical sciences. As geneticists have sought access to the newborn screening samples, they have recognized concerns related to whether they should use the samples, and, if so, under what conditions. This paper addresses the ethical issues associated with genetic screening and recommends an informed consent protocol that may be used to balance individual and parental rights with the interests of researchers who wish to use surplus samples in studies of genetic disease.