Clinical ’Omes

Report provides primer on using clinical genome and exome sequencing technologies.

By | June 20, 2014

WIKIMEDIA, GEORGE GASTINIn a review article published this week (June 19) in the New England Journal of Medicine, researchers have released guidelines on clinical genome and exome sequencing in order provide doctors with a basic outline of the rapidly advancing technologies now available. Coauthors 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, in previous years, thousands of physicians have already ordered such sequencing tests. The pair predicted that, this year, another 10,000 tests would be ordered.

“It’s come much faster and developed more quickly and become more useful clinically than I think any reasonable person would have suggested just 10 years ago,” Biesecker said in a statement. “At that time, I don’t think anybody would have taken you seriously if you had said that in 2014, tens of thousands of patients would be getting clinical genome and exome sequencing.”

Today, clinical genome and exome sequencing technologies work best for patients with rare disorders that are caused by single gene variants. Only about 25 percent of tests will identify a single-gene variant, however. And diagnosis may not lead to treatment, especially for rare conditions. The authors noted that counseling patients is essential as the tests may not be appropriate for all patients. But they remain hopeful about the method’s potential in the long term.

“While our focus in this article is on the use of sequencing in cases where diagnosis is difficult, the sequence is just the beginning,” Green said in a statement. “We can expect these technologies to help us transition our entire approach in medicine to more personalized and preventive care.”

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June 23, 2014

'journeying' diagnostic exploration to 'molecular point' seems a kind of scientific ultimate, affording proof beyond disputability in those cases where somewhere within the exons lies the molecular driver for the particular disease. For the scientist, such route to diagnosis can represent reasonable conquest of grounds; to the clinician, faced with expectations for making a difference in the case, his joy is never complete until diagnosis is hooked to therapy: exome sequencing therefore exciting as it may be within the world of bench science, may still seem remote from the bedside to the extent it stops short of influencing the course of the very disease it has diagnosed. But a Journey of a thousand miles begins with the first step and so one can continue to hope that with effort and time, full translational impact of this technology will manifest at the bedside, taking the patient beyond the door of mere diagnosis into the chambers of transformative therapy or something very close. How long it may take on that journey may be no more than a 'scienced' guess.

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