Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.

ABSTRACT: Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought. Allied to this is the need for an effective education programme for all members of clinical teams involved in care of patients with rare disease, as well as to maintain public confidence in the use of these technologies. We established a Genomic Medicine Mult

SUBMITTER: Ormondroyd E 

PROVIDER: S-EPMC5427178 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature