The criteria for notable accomplishments:
- Involve use of patients’ genomic variant information in clinical decision making.
- Demonstrate impact of direct clinical implementation on health outcomes or behaviors.
- Are likely to be generalizable beyond original setting.
- Are likely to have implications for healthcare systems or practice guidelines.
- Are sufficiently large and rigorous to overcome sampling error and other bias.
- Are broadly representative of the field beyond NHGRI-sponsored or US-funded programs.
Categories for the notable accomplishments of research are defined (below) as research that uses genomics to generate or study.
|Genomic Medicine Resource||Genomic medicine educational materials or guidelines.|
|Pilot Implementation||Preliminary evidence that suggest a need for broader research for the systematic uptake of genomic research findings and other evidence-based practices into routine practice.|
|Systematic Implementation||Uptake of genomics into patients’ medical care with definition and measurement of health and implementation outcomes (e.g., acceptability, cost, feasibility, etc.).|
|Risk Assessment/Prediction||How a person’s genes can be used to estimate their risk to develop a disease or condition.|
|Pharmacogenomics||How a person’s genetic variation affects how they respond to medications.|
|Oncology||Use of genomics for the treatment and management of cancer excluding cancer risk estimation since included in “Risk Assessment/Prediction.”|
|Undiagnosed Diseases||Use of genomics to identify the etiology of unexplained disease.|
|Gene-Disease Validation||Definitive evidence supporting or refuting a claim that variation in a particular gene causes a particular disease in humans, including evidence from in vitro technologies or model organisms.|
|Sequencing||Use of genetic sequencing for patients’ medical care.|
|Variant Classification||How a genetic alteration influences an individual's susceptibility or predisposition to a certain phenotype.|
|Impact/Outcomes||Compelling evidence of the impact of genomic based interventions on patient outcomes.|
|Secondary Findings||Interpretation of genetic test results identified in a gene unrelated to the primary purpose for the testing.|
|Health Disparities||Genomics’ role in differences in human health that are closely linked with social or economic disadvantage.|
|Other||Genomic medicine subject that is different or distinct from one of the already listed categories.|
Last updated: December 2, 2020