Clinical ’Omes

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

Jun 20, 2014
Rina Shaikh-Lesko

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.”