Long overdue: including adults with brain disorders in precision health initiatives.

Long overdue: including adults with brain disorders in precision health initiatives. Curr Opin Genet Dev. 2020 Jun 13;65:47-52 Authors: Finucane BM, Myers SM, Martin CL, Ledbetter DH Abstract Developmental brain disorders (DBD), including autism spectrum disorder, intellectual disability, and schizophrenia, are clinically defined and etiologically heterogeneous conditions with a wide range of outcomes. Rare pathogenic copy number and single nucleotide genomic variants are among the most common known etiologies, with diagnostic yields approaching for some DBD cohorts. Incorporating genetic testing into the care of adult patients with DBD, paired with targeted genetic counseling and family cascade testing, may increase self-advocacy and decrease stigma. In the long-term, breakthroughs in the understanding of DBD pathophysiology will hinge on the identification, engagement, and study of individuals with rare genetic DBD etiologies, consistent with successful precision medicine approaches to the treatment of cancer and cardiovascular disease. PMID: 32544666 [PubMed - as supplied by publisher]
Source: Current Opinion in Genetics and Development - Category: Genetics & Stem Cells Authors: Tags: Curr Opin Genet Dev Source Type: research