P616: Mainstreaming genomic testing to increase diagnostic accessibility for adults with intellectual and developmental disabilities
Genomic testing, including exome sequencing (ES), has revolutionized the diagnosis of genetic conditions, and led to improved health outcomes, healthcare cost savings, and psychosocial benefits. Access to genomic testing is constrained by genetics workforce limitations, clinician knowledge gaps, and financial barriers. Integrating genetic testing into routine medical care, a process known as mainstreaming, has increased access to molecular testing for a number of conditions, including breast cancer, pharmacogenetic risk, and polycystic kidney disease.
Authors
- Jessica I. Gold (ORCID: https://orcid.org/0000-0002-6210-4214)
- Karin Roseman (ORCID: https://orcid.org/0009-0007-7714-2794)
- Mary Stephens (ORCID: https://orcid.org/0009-0007-3793-3444)
Institutions
- Feinstein Institute for Medical Research (US)
- Sidney Kimmel Cancer Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102464
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00