Risk and prevention
This domain covers risk and prevention in the well patient: what family history and genetic test results say about risk, and what an independent physician does with that information. This includes who to test, what to do with a positive result, and how to keep the result from becoming a source of harm.
Why this is a domain
Genomic risk information has reached primary care before the tools for handling it. Patients bring consumer results, proactive sequencing reports and carrier screens. Guidelines say who to refer but not what to do in a practice without an on-site genetic counselor. The difficulty is not the test but the decisions that follow it: cascade testing of relatives, surveillance schedules that span decades and specialties, polygenic scores whose meaning depends on ancestry and context, and drug-gene pairs that only matter when a prescription is being written.
Independent practice is suited to this work. Risk management is longitudinal, and independent physicians offer a continuity that larger health systems do not. The five cohorts are five kinds of risk information, each with its own care map.
The five cohorts
| Cohort | Who it covers | Status | Slack |
|---|---|---|---|
| Hereditary cancer risk Identifying who in the family needs testing, and the surveillance that follows | Lynch, BRCA1/2, PALB2 and other cancer syndromes, plus cascade testing | Launch | #cohort-hereditary-cancer |
| Comprehensive genetic risk Sorting actionable from non-actionable findings in a healthy adult's proactive exome or genome | Proactive exome or genome in healthy adults: ACMG secondary findings, FH, inherited cardiomyopathy and arrhythmia | Forming | #cohort-comprehensive-genetic-risk |
| Polygenic risk score Whether a polygenic score changes what we would do for the patient | PRS for coronary disease, breast and prostate cancer and type 2 diabetes, and how they combine with monogenic results and family history | Seeking a lead | #cohort-polygenic-risk |
| Pharmacogenomic profile Deciding when a pharmacogenomic result is worth ordering, and how it reaches the prescription | Actionable drug-gene results applied to current and future prescribing | Seeking a lead | #cohort-pharmacogenomics |
| Preconception carrier screening The screening to offer a couple, and what follows a positive result | Expanded carrier screening, preconception counseling and family planning | Seeking a lead | #cohort-carrier-screening |
How the care maps differ here
The Establish year here is about the decision to test and the first result: who meets criteria, which test, what the patient was told before the sample was drawn, and what the report means. The genetics role carries pre-test and post-test counseling, which most primary care practices have never been staffed for, and which the network can supply through the counselor roster.
In this domain the Treat year is a surveillance year: the colonoscopy interval, the breast MRI, the lipid target, the cardiac screen. These schedules run longer than any single specialist relationship, which is why the anchor role sits in primary care. The Sustain year adds the family, reclassification of variants, and reassessment as the patient ages into new risk windows. Most of the public-health value of testing lies in cascade testing of relatives, and that is also where most of it is lost.5
Behavioral health is on every map in this domain because risk information changes how people see themselves, and an unmanaged result can do more harm than no result.
What the domain needs from the provider rosters
Counselors (genetic counselors above all), esoteric assays (sequencing and reanalysis laboratories with transparent pricing), clinical expertise for variant interpretation, and specialists in oncology, gastroenterology, cardiology and maternal-fetal medicine who accept risk-based referrals from an independent practice.
Starting references
- Miller DT, Lee K, Abul-Husn NS, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(8):100866. doi:10.1016/j.gim.2023.100866
- Lewis CM, Vassos E. Polygenic risk scores: from research tools to clinical instruments. Genome Med. 2020;12(1):44. doi:10.1186/s13073-020-00742-5
- El Rouby N, Johnson JA. Pharmacogenetic testing: evidence, challenges, and pathways to adoption. NEJM Evid. 2025;4(10). doi:10.1056/EVIDra2400343
- Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793-1806. doi:10.1038/s41436-021-01203-z
- Pederson HJ, Narod SA. Why is genetic testing underutilized worldwide? The case for hereditary breast cancer. BJC Rep. 2024;2(1):73. doi:10.1038/s44276-024-00099-x