Primary Care Clinicians and the Dilemmas of Genetic Testing

“If even a fraction of the claims made about the impending impact of genetics on clinical practice came true, the clinical genetics services would be overwhelmed. We must not miss the opportunity to prepare primary care for the new genetics.”

– Jon Emery and Susan Hayflick ¹

Part 1: The Human Genome Project, Scientific Reality and Public Expectations

There is little doubt that the sequencing of the human genome, announced on June 26th, 2000 by Francis Collins of the NIH and Craig Ventner, of Celera Genomics, represented one of the most significant achievements in the history of science. The formal announcement, which included both President Clinton and Prime Minister Tony Blair, crystallized the fact that after a half century of research, genetic knowledge had reached a critical mass and was now expected to transform our understanding of our biological selves.

Although the scientific achievement is unquestionable, the nature and degree of its impact on the current and future practice of medicine, is not clear. Some experts have predicted a rapid and profound revolution in medicine.² Others, even some geneticists, doubt that genetics will fundamentally change the nature of medical practice.³

While medical experts debate the impact of genetics on medicine, the public perception is that a significant change in medicine has already begun. The Los Angeles Times, for example, called the recent advances in genetics, “official recognition that a new era in medicine had begun.”⁴ Healthcare providers are thus faced not only with the actual developments in genetic medicine, but also with powerful perceptions that the public has about the promises of genetic medicine.

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