Exomes in the Clinic

Two teams report molecular diagnosis rates of 25 percent sequencing separate sets of patients with undiagnosed, suspected genetic conditions.

By | October 21, 2014

ISTOCK, FOTOHUNTERSequencing the coding portions of people’s genomes could improve medicine’s ability to identify genetic disorders, according to two independent papers published in JAMA this week (October 18).

“[The studies] provide compelling evidence for the ability of exome sequencing to establish a molecular diagnosis,” the University of North Carolina, Chapel Hill’s Jonathan Berg wrote in an editorial accompanying the works.

In one paper, researchers from the University of California, Los Angeles, David Geffen School of Medicine showed that in a sample of 814 patients with suspected but undiagnosed genetic conditions who had their exomes sequenced recently, the overall molecular diagnosis rate was 26 percent. The diagnosis rate was higher for patients whose family members were also sequenced.

Separately, a team led by investigators at the Baylor College of Medicine in Houston, Texas, reported in a larger sample—2,000 patients whose exomes were also sequenced in the last few years—a molecular diagnosis rate of 25 percent.

“It is just a matter of time before genomics moves up on the physician’s list of things to do and is ordered before formulating a differential diagnosis,” study coauthor James Lupski of Baylor said in a statement.

Of course, when it comes to rare genetic disorders, confirming a diagnosis is only half the battle; there is also the issue of treatment. Writing in New England Journal of Medicine in June, Leslie Biesecker from the National Human Genome Research Institute (NHGRI) and Robert Green of Brigham and Women’s Hospital and Harvard Medical School noted that whole-exome sequencing may not be appropriate for all patients. Still, more and more physicians are ordering these tests, Biesecker and Green pointed it.

Add a Comment

Avatar of: You

You

Processing...
Processing...

Sign In with your LabX Media Group Passport to leave a comment

Not a member? Register Now!

LabX Media Group Passport Logo

Popular Now

  1. Running on Empty
    Features Running on Empty

    Regularly taking breaks from eating—for hours or days—can trigger changes both expected, such as in metabolic dynamics and inflammation, and surprising, as in immune system function and cancer progression.

  2. Gut Feeling
    Daily News Gut Feeling

    Sensory cells of the mouse intestine let the brain know if certain compounds are present by speaking directly to gut neurons via serotonin.

  3. Athletes’ Microbiomes Differ from Nonathletes
  4. Government Nixes Teaching Evolution in Turkish Schools
AAAS