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New report offers a primer for doctors' use of clinical genome and exome sequencing
Date:6/18/2014

e for proteins. These make up 1 to 2 percent of the human genome and account for about 20,000 genes. Once a patient's DNA is extracted and the exons sequenced, computer programs identify differences between the patient's DNA and a reference sequence for the human genome. These variants may point to the cause of the patient's disease.

In an NHGRI-funded study published in the NEJM last year, exome sequencing identified the genetic cause of disease in about 25 percent of patients. The technique has identified causative or contributory gene variants in a host of diseases, including Charcot-Marie-Tooth disease, mental retardation, other neuropathies, metabolic disorders, epilepsy, cardiomyopathy, cancer and amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease).

"This is a transformative moment in the history of medicine as we begin to integrate genome sequencing into the care of patients," said Dr. Robert Green, who leads the NHGRI-funded MedSeq Project and several other translational genomics research projects at Brigham and Women's Hospital and Harvard Medical School. "While our focus in this article is on the use of sequencing in cases where diagnosis is difficult, the sequence is just the beginning. We can expect these technologies to help us transition our entire approach in medicine to more personalized and preventive care."

Whether and to what degree health insurance companies will pay for genome or exome sequencing are open questions. So far, as with other genetic tests, insurers have covered some cases, "Anecdotally, some labs are telling us that insurers are reimbursing for these," said Dr. Biesecker.

The authors agree that physicians must understand that exome sequencing can't answer all questions and isn't appropriate for all patients. The purpose of their article is to outline what physicians need to know in order to use it properly. For example:

  • While these technologies are sometimes referred
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Contact: Raymond MacDougall
macdougallr@mail.nih.gov
301-443-3523
NIH/National Human Genome Research Institute
Source:Eurekalert

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