The Evolution of Cancer Risk Assessment in the Era of Next Generation Sequencing

摘要: Cancer genetics professionals face a new opportunity and challenge in adapting to the availability of cancer genetic testing panels, now available as result Next Generation Sequencing (NGS) technology. While panels have been for over year, we believe that there is not yet enough data create practice guidelines. Despite this, year experience allows us provide our opinion on points consider counselors incorporate this technology into counseling models. NGS offers ability potentially diagnose hereditary syndromes more efficiently by many genes at once fraction what it would cost test each gene individually. However, are limitations additional risks with these tests. Obtaining informed consent concurrent multiple requires modify their discussions patients regarding potential associated implications medical management. We propose dividing panel categories vary degree risk (e.g. penetrance syndrome) management guidelines, aim improve patient understanding range information can come from testing. The increased identifying variants uncertain significance (VUS) when must be discussed patients. Pretest also include possibility receive unexpected results well absence related It important whether single remains best option some As expand, documentation reflects exactly which analyzed patient. holds promise efficient diagnosis patients, comes challenges recognize address.