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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… when their genomic information is used for research, clinical applications or other uses. This page summarizes … health information held at grantee institutions. Use of Clinical Samples in Research Specimens collected in medical … of genomic testing has gone from rare to routine in many clinical settings. This type of testing has clear clinical …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… to transform how population descriptors are used in human genetics and genomics research. … Racial categories changed … contributing factors, including genomic, biological or clinical traits; components of the natural, built or social … Plain Sight - Reconsidering the Use of Race Correction in Clinical Algorithms . N Engl J Med. 2020;383(9):874-882. …
About Genomics
Appropriate use of population descriptors in scientific research is critical for the advancement of genomic science and human health for all.
… Report: Using Population Descriptors in Genetics and Genomics Research In response to a request … best practices for use of population descriptors in genetics and genomics research … Genetic and genomic … genetic data has grown exponentially over the past decade. Genetics and genomics research is now being conducted by a …
Policy Issues
El uso de seres humanos en las investigaciones biomédicas, clínicas y socioconductuales puede ofrecer entendimiento y descubrimientos que no pudieran obtenerse de ninguna otra manera.
… las Enmiendas a las Mejoras para Laboratorios Clínicos ( Clinical Laboratory Improvements Amendments , CLIA ) de 1988, … Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts "). Este …
Policy Issues
En una decisión histórica en junio de 2013, el Tribunal Supremo determinó que el ADN en su forma natural no puede ser patentado.
… de otros grupos, presentaron una demanda contra Myriad Genetics, la USPTO y la University of Utah Research … y validez de las patentes génicas de BRCA1 y BRCA2. Myriad Genetics había sido especialmente activa en la aplicación de … falló a favor de los demandantes y en contra de Myriad Genetics, determinando que los genes BRCA1 y BRCA2 eran …
About Genomics
February 15, 2021 marks the 20-year anniversary of publications reporting the draft human genome sequence.
… of genetic disorders and genomic analysis in standard clinical practice. In its 2020 Strategic Vision, the National …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… … Pharmacogenomic testing is currently being used in clinical care to inform decisions related to the prescription … testing, we adapted a true patient story from the NIH Clinical Center, omitting the name for privacy reasons. “I … of my chemotherapy without severe side effects.” - NIH Clinical Center Patient Anyone considering pharmacogenomic …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
… "Cari" Young, Sc.M., first developed an interest in genetics in her high school AP biology class. "I was drawn to … she began to appreciate the potential broad impact of genetics and genomics. "I was attracted to the promise of … Institute (NHGRI) as the 14th American Society of Human Genetics (ASHG)/NHGRI Genetics and Public Policy Fellow. She …
Fact Sheet
Participation in genomics research is essential for improving the health of everyone.
… risk of developing a specific disease and design a clinical management strategy that is tailored to the … for real-world applications of genomic medicine in clinical settings. Electronic Medical Records and Genomics … for all populations and to integrate their use in clinical care. … How it affects you … Why should researchers …