0000000000717660
AUTHOR
F. Tran Mau-them
Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene
International audience
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…