CHICAGO – These days, it’s faster and cheaper than ever to decipher a person’s entire DNA. But a small study suggests that looking for disease risks that way may not be ready for the masses.
For one thing, the research found that gene variants most likely linked with significant disease were the least likely to be accurately identified.
Some experts think more targeted gene-mapping is a better approach. But while whole genome sequencing is mostly done for research, it has far-reaching potential for diagnosing and treating genetic diseases, even in people with no known risks. The new results show its promise and its challenges.
The study was published in the Journal of the American Medical Association. Dr. Euan Ashley, a senior co-author and Stanford associate professor of medicine and genetics and several co-authors have financial ties to a genome interpretation company and receive royalties for patents related to genome sequencing. One of the authors has received speaker fees from the maker of one of the machines used.
