Should Healthy People Have Their Exomes Sequenced?

With its announced launch of a whole-exome sequencing service for apparently healthy individuals, Ambry Genetics is the latest company to enter this growing market. But whether these services are useful for most people remains up for debate.

Written byRuth Williams
| 4 min read

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© BRYAN SATALINOFor people with no perceivable health issues but who are curious about some potential future ailments, there are now a handful of companies offering whole-genome or exome sequencing services to identify potential disease risks and other personal traits. The latest company to join the fray is Ambry Genetics, which plans to this year launch a whole-exome sequencing service, the firm announced at the American College of Medical Genetics and Genomics annual meeting, being held in Phoenix this week.

“Right now we are in the development stages,” said Brigette Tippin Davis, director of Emerging Genetic Medicine at the Aliso Viejo, California-based company. “The plan is that [healthy] individuals would go to their doctor and, if they are curious about their genetic risks,” she said, they can “get a comprehensive test all in one.”

Whole-genome or -exome sequencing has traditionally been reserved for patients with a symptomatic disease for which all diagnostic avenues have been exhausted, said Davis. But Ambry Genetics and other companies—including Genos, based in San Francisco, San Diego–based Human Longevity, and Veritas, of Danvers, Massachusetts—are now widening the net.

Ambry Genetics wants “to increase access to testing,” said Davis. “This is a way to bring genetic stratification and customized primary care screening ...

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  • ruth williams

    Ruth is a freelance journalist. Before freelancing, Ruth was a news editor for the Journal of Cell Biology in New York and an assistant editor for Nature Reviews Neuroscience in London. Prior to that, she was a bona fide pipette-wielding, test tube–shaking, lab coat–shirking research scientist. She has a PhD in genetics from King’s College London, and was a postdoc in stem cell biology at Imperial College London. Today she lives and writes in Connecticut.

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