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Research Funding

ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.

… information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of variant information is the lack of openly … patients, healthcare systems, scientific experts and genetics professionals. … The following groups are receiving …

News Release

NHGRI appoints Dr. Benjamin Solomon as clinical director

Clinical geneticist to lead NHGRI’s clinical genomics research efforts

… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human … Fellowship Executive Committee, which oversees the medical genetics training program. “Ben brings valuable experiences …

Research Funding

Clinical Sequencing Evidence-Generating Research (CSER)

CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.

… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, … professional medical organizations outside of medical genetics as well as with payers and policymakers, to ensure …

Research Funding

Implementing Genomics in Practice (IGNITE) Pragmatic Clinical Trials Network (PTN)

The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.

… develop methods for incorporating genomic information into clinical care and explore the methods for effective … implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network, IGNITE I … an individual patient's genomic findings into his or her clinical care. Building on the successful genomic medicine …

Policy Issues

Regulation of Genetic Tests

Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.

… criteria, adapted from the National Library of Medicine's Genetics Home Reference . Analytical Validity: Refers to how … whether a specific genetic variant is present or absent? Clinical Validity: Refers to how well the genetic variant(s) … of having a disease or eventually developing a disease? Clinical Utility: Refers to whether the test can provide …

Policy Issues

Coverage and Reimbursement of Genetic Tests

Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.

… … Genomic medicine has the capacity to revolutionize clinical practice. The mapping of the human genome has … Tests and Services (HHS Secretary's Advisory Committee on Genetics, Health, and Society) An Evidence Framework for … Sciences, Engineering, and Medicine) Another issue where genetics intersects with health insurance is genetic …

Policy Issues

Genetic Discrimination

In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.

… Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to … for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in the research … Act of 2008, Public Law 110-223 . … GINA and Clinical Research GINA has implications for individuals …

Policy Issues

Return of Research Results

Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.

… When conducting clinical research studies, scientists may discover new … that a study participant in an investigation of the genetics of heart disease possesses a gene variant related to … law regarding return of genetic IRRs and IFs is the Clinical Laboratory Improvement Amendments of 1988 (CLIA) , …

Research Funding

Genetic Architecture of Complex Traits

Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.

… A major goal of human genetics is to decompose the sources of trait variation into … the Genetic Architecture of Complex Human Traits (R01 Clinical Trial Not Allowed) PAR-25-255 Application Due … the Genetic Architecture of Complex Human Traits (R21 Clinical Trial Not Allowed) PAR-25-256 Application Due …

Policy Issues

What do People Think About Genome Editing?

Patients with genetic disorders and members of the public have diverse about germline genome editing.