Unbeknownst to them, at least 1 percent of the U.S. population has an identifiable genetic risk for cancer or heart disease that could be detected and clinically managed through genomic screening. The author of an article published in Annals of Internal Medicine says that identifying those 3 to 4 million persons and effectively mitigating that risk are worthy goals, but more work is needed before genomic screening becomes routine in health care.
According to the author from Yale School of Medicine, current implementation models that demonstrate the clinical utility of routine genomic screening are still preliminary, but show promising results. While the majority of people who receive genomic screening would not find anything that would prompt significant changes to current medical management, the benefit to the few who do have a meaningful finding could be significant. Early case reports show that this approach can identify subclinical disease and prompt important medical interventions.
Cohesive models for implementing genomic screening in routine care are lacking and opportunities to advance knowledge of clinical utility are being missed, according to the author. If achieving better health is the goal, then functioning implementation models must be developed.
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Annals of Internal Medicine (2018). http://annals.org/aim/article/doi/10.7326/M18-1722