The development of genomic technologies has seemed almost magical. Excitement about it, both in medicine and among the public, stems from the belief that genomic techniques will illuminate the causes of health and disease, will lead to effective interventions for both rare and common genetic conditions, and will inform reproductive decision‐making. Novel diagnostic tools, however, are often deployed before targeted therapies are developed, tested, or available and before their psychosocial implications are explored. Newer technologies such as prenatal whole exome screening (...) are seen as offering “decisional autonomy” to expectant parents, although such technologies identify information about genetic sequencing that may not have clear meaning. The “therapeutic gap” between the ability to conduct genetic sequencing and the ability to fully understand what the test results mean, much less what treatments to offer, leaves families with complex and unclear information they cannot act upon with confidence during pregnancy. In this essay, we will consider the psychosocial and ethical implications of such assumptions—and of the uncertain information produced by these technologies—for individuals and families and for societal aspects such as medical service usage and demographic inequities. (shrink)

Cancer susceptibility testing is likely to become routine in medical practice, despite many limitations and unanswered questions. These uncertainties greatly complicate the process of informed consent, creating an excellent opportunity to reconsider exactly how it should be conducted. Research with women's reactions to the availability of genetic susceptibility testing for breast cancer dramatically underscores that informed consent ought to be highly individualized, taking care to discern what patients believe about the disease and its causes and what role they want their (...) physician to play. (shrink)

Confidentiality is a cornerstone of the physician-patient relationship. Breaches of confidentiality in the context of genetic testing are of particular concern for a number of reasons. First, genetic testing reveals information not only about a particular patient, but also about his or her family members. Second,genetic testing can label healthy people as “at risk,” subjecting them to possible stigmatization or discrimination by third parties. Third, as genetic testing becomes more widespread and is incorporated into primary care, breaches of confidentiality might (...) inadvertently occur more frequently because primary care providers may not be trained to understand the uniqueness of genetic information. Until now, genetic services have been provided primarily by medical geneticists and genetic counselors. However, with the proliferation of new genetic presymptomatic and carrier tests, primary care physicians are going to become increasingly involved in genetic testing. Currently, little is known about physicians’ attitudes toward disclosure of confidential genetic information to third parties. (shrink)

Confidentiality is a cornerstone of the physician-patient relationship. Breaches of confidentiality in the context of genetic testing are of particular concern for a number of reasons. First, genetic testing reveals information not only about a particular patient, but also about his or her family members. Second,genetic testing can label healthy people as “at risk,” subjecting them to possible stigmatization or discrimination by third parties. Third, as genetic testing becomes more widespread and is incorporated into primary care, breaches of confidentiality might (...) inadvertently occur more frequently because primary care providers may not be trained to understand the uniqueness of genetic information. Until now, genetic services have been provided primarily by medical geneticists and genetic counselors. However, with the proliferation of new genetic presymptomatic and carrier tests, primary care physicians are going to become increasingly involved in genetic testing. Currently, little is known about physicians’ attitudes toward disclosure of confidential genetic information to third parties. (shrink)