Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed illnessesparticularly rare childhood diseasesis moving from research laboratories into general medical practice. Now, two leading scientists have sketched out what doctors need to know in order to use the new technology effectively.
"This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., Ph.D. "Its authors lay out an approach for physicians to follow when using these exciting new technologies."
Several thousand physicians already have ordered clinical genome or exome sequencing (CGES) for their patients, Leslie G. Biesecker, M.D., of the National Human Genome Research Institute and Robert C. Green, M.D., M.P.H., of Brigham and Women's Hospital and Harvard Medical School, Boston, note in the June 19, 2014, issue of the New England Journal of Medicine (NEJM). Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about 10,000 such tests will be ordered this year, and even more than that next year.
"The technologies that were used for the Human Genome Project are now distilled down to practical tools that clinicians can use to diagnose and, hopefully, treat diseases in patients that they couldn't treat before," Dr. Biesecker said. "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. 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."
Exome sequencing amounts to an abridged version of the more complete, but more costly, genome sequencing. Instead of targeting 3 billion base pairs of a human's genome, exome sequencing focuses on the DNA segments, known as exons, that cod
|Contact: Raymond MacDougall|
NIH/National Human Genome Research Institute