Observational studyGenetics in medicine : official journal of the American College of Medical Genetics2020
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Observational study in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
98 citing papers in PubMed, 144 citations in OpenAlex.
- Opportunistic Genomic Screening for Familial Hypercholesterolemia to Improve Low-Density Lipoprotein Cholesterol: A Randomized Clinical Trial.JAMA network open · 2026Trial
- Cost-effectiveness of primary care-based risk assessment and hereditary cancer genetic testing.BMC primary care · 2025Trial
- An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.European journal of medical genetics · 2025Trial
- Population Genomic Screening for Hereditary Cancer Risk: Patient Experience, Perceptions, and Downstream Clinical Outcomes.Journal of genetic counseling · 2026Article
- Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants.JCO precision oncology · 2026Article
- Measuring disease likelihood in genomic ascertainment.American journal of human genetics · 2026Article
- The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.American journal of human genetics · 2026Article
- Suboptimal Adherence to Hereditary Cancer Risk Management Guidelines: A Cohort Study of High-Risk Individuals in Newfoundland and Labrador, Canada.Current oncology (Toronto, Ont.) · 2026Article
- Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.European journal of human genetics : EJHG · 2026Observational
- Real-world treatment patterns and unmet needs in spinal muscular atrophy: a caregiver-centric survey study from China.BMC neurology · 2026Article
- North Carolina primary care provider perspectives on expanded genomic screening in children.BMC medical genomics · 2026Article
- Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.Nature health · 2026Article
- Health actions after direct-to-consumer genetic testing for medically actionable conditions.Genetics in medicine open · 2026Article
- The global cancer crisis: a review of growing burden, deepening inequality and initiatives for prevention and early detection.Ecancermedicalscience · 2026Review
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.Biomedicines · 2025Article
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.American journal of human genetics · 2025Article
- Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.Circulation. Genomic and precision medicine · 2025Article
- Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.Cancer medicine · 2025Review
38 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThree genetic conditions-hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia-have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.
methodsObservational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger's MyCode project. EHR of all eligible participants was evaluated for a prior genetic diagnosis and, among participants without such a diagnosis, relevant personal/family history, postdisclosure clinical diagnoses, and postdisclosure risk management.
resultsEighty-seven percent of participants (305/351) did not have a prior genetic diagnosis of their tier 1 result. Of these, 65% had EHR evidence of relevant personal and/or family history of disease. Of 255 individuals eligible to have risk management, 70% (n = 179) had a recommended risk management procedure after results disclosure. Thirteen percent of participants (41/305) received a relevant clinical diagnosis after results disclosure.
conclusionGenomic screening programs can identify previously unrecognized individuals at increased risk of cancer and heart disease and facilitate risk management and early cancer detection.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.