ArticleMayo Clinic proceedings2018
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.
Article in Mayo Clinic proceedings, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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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
28 citing papers in PubMed.
- 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
- 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
- A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).BMC medical ethics · 2026Article
- Implementation of genetic testing for heritable cardiac conditions: A scoping review.Genetics in medicine open · 2025Review
- Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.Journal of the American Heart Association · 2024Review
- Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community.Journal of personalized medicine · 2023Article
- Studying the impact of translational genomic research: Lessons from eMERGE.American journal of human genetics · 2023Review
- Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.Circulation. Genomic and precision medicine · 2023Article
- Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community.Research square · 2023Article
- A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Workforce Considerations When Building a Precision Medicine Program.Journal of personalized medicine · 2022Article
- Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- "Who Doesn't Like Receiving Good News?" Perspectives of Individuals Who Received Genomic Screening Results by Mail.Journal of personalized medicine · 2021Article
- Genetic basis of hypercholesterolemia in adults.NPJ genomic medicine · 2021Article
- Researchers' perspectives on return of individual genetics results to research participants: a qualitative study.Global bioethics = Problemi di bioetica · 2021Article
- Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.HGG advances · 2021Review
- "They're Not Going to Do Nothing for Me": Research Participants' Attitudes towards Elective Genetic Counseling.Journal of personalized medicine · 2020Article
- Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
27 authors.
Funding
Abstract
objectivesTo identify clinically actionable genetic variants from targeted sequencing of 68 disease-related genes, estimate their penetrance, and assess the impact of disclosing results to participants and providers. PATIENTS AND
methodsThe Return of Actionable Variants Empirical (RAVE) Study investigates outcomes following the return of pathogenic/likely pathogenic (P/LP) variants in 68 disease-related genes. The study was initiated in December 2016 and is ongoing. Targeted sequencing was performed in 2533 individuals with hyperlipidemia or colon polyps. The electronic health records (EHRs) of participants carrying P/LP variants in 36 cardiovascular disease (CVD) genes were manually reviewed to ascertain the presence of relevant traits. Clinical outcomes, health care utilization, family communication, and ethical and psychosocial implications of disclosure of genomic results are being assessed by surveys, telephone interviews, and EHR review.
resultsOf 29,208 variants in the 68 genes, 1915 were rare (frequency <1%) and putatively functional, and 102 of these (60 in 36 CVD genes) were labeled P/LP based on the American College of Medical Genetics and Genomics framework. Manual review of the EHRs of participants (n=73 with P/LP variants in CVD genes) revealed that 33 had the expected trait(s); however, only 6 of 45 participants with non-familial hypercholesterolemia (FH) P/LP variants had the expected traits.
conclusionExpected traits were present in 13% of participants with P/LP variants in non-FH CVD genes, suggesting low penetrance; this estimate may change with additional testing performed as part of the clinical evaluation. Ongoing analyses of the RAVE Study will inform best practices for genomic medicine.
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