Evidence map›Paper›PMID 39530317›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Chloe Mighton, Rita Kodida, Salma Shickh, Marc Clausen, Emma Reble, Jordan Sam, Sonya Grewal, Daena Hirjikaka, Seema Panchal, Carolyn Piccinin and 23 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Measuring disease likelihood in genomic ascertainment.American journal of human genetics · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors.

Chloe MightonInstitute of Health Policy, Management & Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Rita KodidaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Salma ShickhInstitute of Health Policy, Management & Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Marc ClausenGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Emma RebleGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Jordan SamGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Sonya GrewalGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Daena HirjikakaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Seema PanchalThe Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Carolyn PiccininThe Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Melyssa AronsonDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Thomas WardZane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Susan Randall ArmelDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Bhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, Toronto, ON, Canada.
Renee HofstedterBhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, Toronto, ON, Canada.
Tracy GrahamDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Odette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Talia MancusoOdette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Nicole ForsterFred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada.
José-Mario Capo-ChichiGenome Diagnostics Division, Toronto General Hospital, University Health Network, Toronto, ON, Canada; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Elena GreenfeldLaboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Abdul NoorLaboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Iris CohnDivision of Clinical Pharmacology & Toxicology, Hospital for Sick Children, Toronto, ON, Canada.
Chantal F MorelFred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada.
Christine ElserThe Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada.
Andrea EisenOdette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
June C CarrollDepartment of Family and Community Medicine, University of Toronto, Toronto, ON, Canada; Granovsky Gluskin Family Medicine Centre, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Emily GlogowksiSanofi Genzyme, New York, NY.
Kasmintan A SchraderHereditary Cancer Program, BC Cancer, Vancouver, BC, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Kelvin K W ChanInstitute of Health Policy, Management & Evaluation, University of Toronto, Toronto, ON, Canada; Division of Medical Oncology and Hematology, Department of Medicine, Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Kevin E ThorpeDalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Jordan Lerner-EllisLaboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Raymond H KimBhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, Toronto, ON, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada; Department of Medicine, University of Toronto, Toronto, ON, Canada; Division of Medical Oncology and Hematology, Princess Margaret Hospital Cancer Centre, Toronto, ON, Canada. Electronic address: raymond.kim@uhn.ca.
Yvonne BombardInstitute of Health Policy, Management & Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada. Electronic address: yvonne.bombard@utoronto.ca.
Incidental Genomics Study Team

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
NCI NIH HHS P30 CA008748
6 · The paper itself

Abstract

purposePractice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond medically actionable results to include non-medically actionable monogenic disease risks, carrier status, pharmacogenomic variants, and risk variants for common complex disease. However, evidence on the clinical utility of returning these results is lacking. We assessed the outcomes of opportunistic screening for a broad spectrum of SFs by evaluating the yield, impact on clinical management, and consistency between SFs and participants' clinical features and family history.

methodsAdult cancer patients had exome sequencing with the option to learn multiple categories of SFs. Outcomes data were collected through chart review and participant-reported measures up to one year after return of results.

resultsAll participants (n = 139, 85.6% female, average 54.6 years old) who elected to learn SFs had ≥1 variant reported (100% [139/139]). The yield of reportable findings was highest for pharmacogenomic variants (97.8% [135/138] of participants), followed by common disease risk variants (89.4% [118/132]), carrier status (89.3% [117/131]), and variants related to Mendelian (27.2% [34/125]), medically actionable (15.2% [21/138]), and early-onset neurodegenerative (2.6% [3/117]) disease risks. SFs from the American College of Medical Genetics and Genomics list (v3.2, noncancer genes) were reported in 1.4% (2/138) of participants. SFs across all categories demonstrated clinical utility by prompting management changes in 28.1% (39/139) of participants. Moreover, a considerable proportion of participants had suggestive clinical features (49.0% (24/49)]) or family history (21.8% (27/124)) potentially related to their SFs.

conclusionOur findings indicate there are potential benefits from opportunistic screening for a broad range of SFs.

Indexed as

Genetic TestingGenomicsNeoplasmsAdultAgedCohort StudiesExome SequencingFemaleGenetic Predisposition to DiseaseHumansIncidental FindingsMaleMiddle AgedClinical utilityGenomic screeningSecondary findings

Identifiers

PMID39530317
PMCPMC12257567

What OpenQuestion holds

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Registered trials

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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.