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As Discoveries Unfold, a New Urgency to Bring Genetic Literacy to Physicians

Joan Stephenson, PhD
JAMA. 1997;278(15):1225-1226. doi:10.1001/jama.1997.03550150029014.
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AT A TIME when every week seems to bring reports of new genes implicated in human disease, many experts fear that most physicians will lack the genetic literacy to apply such findings to medical practice.

With the Human Genome Project hurtling toward its goal of sequencing all human genes before the scheduled date of 2005, physicians, other health professionals, and patients are beginning to confront questions concerning how the clinical application of genetic discoveries will be handled. Commercial tests for mutations in at least 15 genes associated with human disease, including breast and colon cancer, cystic fibrosis, fragile X syndrome, Alzheimer disease, and other disorders have already reached the marketplace—but how and when such tests should be used have generated controversy and confusion.

The problem is expected to become even more urgent as genes that play a role in common disorders such as heart disease, hypertension, diabetes, and anxiety disorders


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