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The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
- Source :
- Amendola, LM; Berg, JS; Horowitz, CR; Angelo, F; Bensen, JT; Biesecker, BB; et al.(2018). The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. American Journal of Human Genetics, 103(3), 319-327. doi: 10.1016/j.ajhg.2018.08.007. UCSF: Retrieved from: http://www.escholarship.org/uc/item/5463d72d
- Publication Year :
- 2018
- Publisher :
- eScholarship, University of California, 2018.
-
Abstract
- © 2018 American Society of Human Genetics The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.
- Subjects :
- 0301 basic medicine
Adult
medicine.medical_specialty
Best practice
Cost-Benefit Analysis
MEDLINE
Disease
030105 genetics & heredity
Genome
03 medical and health sciences
Underserved Population
Genetics
Medicine
Humans
Exome
Genetics (clinical)
Whole Genome Sequencing
business.industry
Genome, Human
Genomics
Human genetics
United States
Europe
National Human Genome Research Institute (U.S.)
030104 developmental biology
Phenotype
Family medicine
Commentary
Human genome
business
Delivery of Health Care
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Amendola, LM; Berg, JS; Horowitz, CR; Angelo, F; Bensen, JT; Biesecker, BB; et al.(2018). The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. American Journal of Human Genetics, 103(3), 319-327. doi: 10.1016/j.ajhg.2018.08.007. UCSF: Retrieved from: http://www.escholarship.org/uc/item/5463d72d
- Accession number :
- edsair.doi.dedup.....aebf27e453128206d9f3db42e1ff2e1b