Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Dec:65:47-52.
doi: 10.1016/j.gde.2020.05.001. Epub 2020 Jun 13.

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

Brenda M Finucane  1 , Scott M Myers  2 , Christa L Martin  2 , David H Ledbetter  2
Affiliations
Review

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

Brenda M Finucane et al. Curr Opin Genet Dev. 2020 Dec.

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.

PubMed Disclaimer

References

    1. Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH: Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol 2013, 12:406–414. - PMC - PubMed
    1. Ismail FY, Shapiro BK: What are neurodevelopmental disorders? Curr Opin Neurol, 2019, 32:611–616. - PubMed
    1. Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med 2018. doi:10.1038/s41525-018-0053-8 - DOI - PMC - PubMed
    1. Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet CSemin Med Genet 2012, 160C:118–129. - PMC - PubMed
    1. Bergen SE, Ploner A, Howrigan D, CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium, O’Donovan MC, Smoller JW, Sullivan PF, Sebat J, Neale B, Kendler KS. Joint contributions of rare copy number variants and common SNPs to risk for schizophrenia. Am J Psychiatry 2019. 176:29–35 - PMC - PubMed

Publication types