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Call for Routine Genomic Screening

Making genomic screening a part of routine medical care could uncover between 3 million and 4 million people in the US at risk of developing cancer or heart disease, writes Yale School of Medicine's Michael Murray in the Annals of Internal Medicine.

Murray notes, though, that models showing clinical utility for genomic screening are preliminary and that most people who'd undergo screening won't learn anything that would change how they are managed medically.

However, he argues that newborn screening represent a possible model for widespread genomic screening — most newborns don't have the conditions that screening looks for, but is important for those who do. "Genomic screening will appropriately mirror the NBS model if we learn to implement it for 10 to 100 genes in the short term and then expand the list as knowledge and experience grow," he writes. Murray is on the advisory board of the genetic testing company Invitae, has received a grant from Regeneron, and used to work at the Geisinger Health System.

Harvard T.H. Chan School of Public Health's Aedin Culhane tells LiveScience that Murray's estimate of people harboring deleterious mutations is likely low, but also cautions that there are still challenges in interpreting genomic data, particularly in determining how genes interact with one another as well as with the environment. She tells LiveScience that routine genome screening may soon have its day, but not quite yet.