Accomplishments in Genomic Medicine: Categories and Definitions

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.

Criteria

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.

Last updated: September 11, 2024