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Accurate detection of low-level somatic mutation in intractable epilepsy

August 13, 2019 dna 0
Medical scientists have developed an advanced method for perfectly detecting low-level somatic mutation in patients with intractable epilepsy. Their study showed that deep sequencing replicates of major focal epilepsy genes accurately and efficiently identified low-level somatic mutations in intractable epilepsy. According to the study, their diagnostic method could increase the accuracy up to 100%, unlike the conventional sequencing analysis, which stands at about 30% accuracy.
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Who’s on third? Regulation of third-party genetic interpretation services.

August 13, 2019 dna 0
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Who’s on third? Regulation of third-party genetic interpretation services.

Genet Med. 2019 Aug 12;:

Authors: Guerrini CJ, Wagner JK, Nelson SC, Javitt GH, McGuire AL

Abstract
In recent years, third-party genetic interpretation services have emerged to help individuals understand their raw genetic data obtained from researchers, clinicians, and direct-to-consumer genetic testing companies. The objectives of these services vary but include matching users to genetic relatives, selling customized diet and fitness plans, and providing health risk assessments. As these services proliferate, concerns are being raised about their accuracy, safety, and privacy practices. Thus far, US regulatory agencies have not taken an official position with respect to third-party genetic interpretation services, which has caused uncertainty regarding whether and how they might be regulated. To clarify this area, we analyzed their potential oversight by four US agencies that generally have been active in the regulation of genetic testing services and information: the Centers for Medicare and Medicaid Services, the Food and Drug Administration, the Department of Health and Human Services’ Office of Civil Rights, and the Federal Trade Commission. We conclude that the scope of federal jurisdiction over third-party genetic interpretation services-while limited-could be appropriate at this time, subject to agency clarification and appropriate exercise of oversight.

PMID: 31402353 [PubMed – as supplied by publisher]