Problems of unknown significance: Counseling in the era of next generation sequencing

Fahrioğlu, U

doi:10.2478/bjmg-2018-0003

Abstract

Dear Editor

Next generation sequencing (NGS) has changed the way we approach the diagnosis, prognosis and treatment of genetic disorders. It gave us base pair (bp) precision, multi-gene approach that can be executed in a timely and cost-effective manner. Despite some minor technical issues in NGS, it comes with great advantages. However, the clinical, and especially, genetic counseling profession will need to rise to the challenge to face some of the new issues, dilemmas and problems this new technology is bringing to the table. Some of the counseling guidelines predate the NGS era and will urgently need to be brought up to par with the technology.

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Problems of unknown significance: Counseling in the era of next generation sequencing

Abstract

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