Table 2.
Contributions of public health to genomic medicine: examples from publications in Genetics in Medicine
| Public health functions/priorities | Examples of articles in Genetics in Medicine |
|---|---|
| Function 1: Policy development | |
| The formulation of standards and guidelines, in collaboration with stakeholders, which promote the appropriate use of genetic information and the effectiveness, accessibility, and quality of genetic tests and services. | |
| Priorities | |
| Conducting and sponsoring knowledge synthesis, policy analysis, and recommendations on use and impact of genomic information on populations | Advisory Committee on Heritable Disorders;8 Evaluation of Genomic Applications in Practice and Prevention;9 Evidence synthesis and guideline development in genomic medicine: current status and future prospects;76 A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation77 |
| Convening stakeholders and developing partnerships | Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting;10 Stakeholder assessment of the evidence for cancer genomic tests11 |
| Function 2: Assurance | |
| Assuring that genetic information is used appropriately and that genetic tests and services are used based on agreed-upon goals for effectiveness, accessibility, and quality. | |
| Priorities | |
| Use multilevel interventions (education, programs, influencing policy and practice, and addressing disparities) | Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England;12 Pilot program bringing BRCA1/2 genetic screening to the US Ashkenazi Jewish population;13 Electronic health record interventions at the point of care improve documentation of care processes and decrease numbers of orders for genetic tests commonly ordered by nongeneticists14 |
| Function 3: Assessment | |
| The regular systematic collection, assembly, analysis, and dissemination of information including human genome epidemiologic information, on the health of the community | |
| Priorities | |
| Epidemiologic studies, behavioral and social sciences, communication sciences, health services research, economic evaluations, comparative effectiveness research, training and education | Utilization of genetic tests: analysis of gene-specific billing in Medicare data;15 Clinical utility of family history for cancer screening and referral in primary care;16 Public awareness and use of direct-to-consumer personal genomic tests from four state-based surveys;17 Which BRCA genetic testing programs are ready for implementation in health care?: a systematic review of economic evaluations;18 Analysis of trends in undergraduate medical genetics education19 |
| Based on refs. 6 and 7. |