Genetic testing today.

摘要: The commercial introduction of next-generation sequencing has made it possible to test for mutations in all known or suspected breast cancer predisposition genes one panel, at time, about the same cost as a BRCA gene test. Clinicians are increasingly presented with challenge advising patients rare genes. Literature review and personal experience panel tests. Panel tests more likely identify variant uncertain clinical significance than deleterious mutation. In addition, not included unequivocally linked increased risk, most penetrance is highly variable, making difficult translate specific mutation into an absolute risk. three-generation family history should be used select truly high-risk families testing, then referred again when results received order guide risk-management decisions. Knowing patient’s status can influence decisions local–regional systemic therapy, but turnaround times many still too long incorporate them initial evaluation new cancer. commercialization potential greatly enhance identification management individuals inherited A period uncertainty anticipated before full this technology realized.