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.

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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
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article

P616: Mainstreaming genomic testing to increase diagnostic accessibility for adults with intellectual and developmental disabilities

Jessica I. Gold, Karin Roseman, Mary Stephens
Genetics in Medicine Open
Autism Spectrum Disorder Research
article

P616: Mainstreaming genomic testing to increase diagnostic accessibility for adults with intellectual and developmental disabilities

Jessica I. Gold, Karin Roseman, Mary Stephens
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
Feinstein Institute for Medical Research (US), Sidney Kimmel Cancer Center (US)
Quality Education
Openalex Percentile: Top 95%
Autism Spectrum Disorder Research
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P616: Mainstreaming genomic testing to increase diagnostic accessibility for adults with intellectual and developmental disabilities — Jessica I. Gold, Karin Roseman, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS