With around 10,000 tests using genome-based technology expected to be ordered this year, an article published this week in The New England Journal of Medicine provides guidance on using the technology effectively in clinical practice.
"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," co-author Leslie G. Biesecker, M.D., chief of the National Human Genome Research Institute's Medical Genomics and Metabolic Genetics Branch, said in an announcement. His co-author on the NEJM article is Robert C. Green, M.D., of Brigham and Women's Hospital and Harvard Medical School in Boston.
Clinical genome or exome sequencing (CGES) is being used particularly in diagnosing rare childhood diseases.
"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. "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."
Despite that new advancement, whole-genome sequencing scanners aren't ready to go mainstream, according to research published in the Journal of the American Medical Association in March. Euan Ashley, an associate professor of medicine and genetics at Stanford University and an author on the study, compared the technology to "an unruly teenager," saying that it would take some "tough love" for such tools to make their way into every doctor's office.
Last month, the National Institutes of Health announced a big data project that seeks to find links among genes, diseases and traits by sifting through mountains of existing data.