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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
- Publication Year :
- 2016
- Publisher :
- Elsevier, 2016.
-
Abstract
- Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.
- Subjects :
- 0301 basic medicine
Adult
Evidence-based practice
Biomedical Research
Best practice
Exploratory research
MEDLINE
Genomics
Computational biology
030105 genetics & heredity
Bioinformatics
Polymorphism, Single Nucleotide
Article
03 medical and health sciences
Population Groups
Genetics
Medicine
Genomic medicine
Humans
Genetics(clinical)
Exome
Child
Genetics (clinical)
Exome sequencing
Medical education
Clinical Trials as Topic
business.industry
Genome, Human
Correction
High-Throughput Nucleotide Sequencing
Human genetics
United States
3. Good health
National Human Genome Research Institute (U.S.)
030104 developmental biology
Cardiovascular Diseases
Evidence-Based Practice
Human genome
business
Psychology
Software
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....49fb9b89f4acdb7665dd777a305e8857