Accomplishments in Genomic Medicine: Categories and Definitions
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.
- Demonstrate the potential for clinical implementation.
- Are likely to be generalizable beyond original setting.
- Are likely to have implications for healthcare systems or practice guidelines.
- Are important considerations for diversity and health equity.
- 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.
Category | Information Content |
---|---|
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: May 13, 2022