Problems of Unknown Significance: Counseling in the Era of Next Generation Sequencing

Balkan J Med Genet. 2018 Oct 29;21(1):73-76. doi: 10.2478/bjmg-2018-0003. eCollection 2018 Jun.

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.

Keywords: Cancer; Challenges; Genetic counseling; New guidelines; Next generation sequencing (NGS).