Evidence map›Paper›PMID 40613270›Full record

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

Implementing secondary findings analysis in a genetic and environmental research study.

Jennifer J Johnston, Julie C Sapp, Seeley Yoo, Zara Wermers, Sophia Hernandez, Alison Motsinger-Reif, Adam Burkholder, David Fargo, Jennifer L Emerson, Janet E Hall and 1 more

Abstract read
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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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Jennifer J JohnstonCenter for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD. Electronic address: jjohnsto@mail.nih.gov.
Julie C SappCenter for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD.
Seeley YooCenter for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD.
Zara WermersCenter for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD.
Sophia HernandezCenter for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD.
Alison Motsinger-ReifBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC.
Adam BurkholderBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC.
David FargoBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC.
Jennifer L EmersonDLH Corp Inc, Bethesda, MD; Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC.
Janet E HallClinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC.
Leslie G BieseckerCenter for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD.

Funding

Genomic Ascertainment - Molecular and Genetic AspectsZIAHG200359 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2009 to 2025
$19.7M
Genomic Ascertainment - Clinical and Behavioral AspectsZIAHG200387 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$15.5M
Personalized Environment and Genes Study (PEGS)ZICES103354 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI HALL, JANET · 2020 to 2024
$7.0M
Intramural NIH HHS Z99 HG999999Intramural NIH HHS ZIA HG200359Intramural NIH HHS ZIA HG200387Intramural NIH HHS ZIC ES103354
6 · The paper itself

Abstract

purposeOptimizing return of secondary findings (SFs) in research settings requires an understanding of the complexities and challenges.

methodsGenome sequence was generated for 4737 participants in a genetic and environmental health study, and 4630 of them consented to SF return. Variants in the American College of Medical Genetics and Genomics v3.0 genes were classified using the American College of Medical Genetics and Genomics/Association for Molecular Pathology criteria with ClinGen-approved modifications.

resultsEighty-six variants were eligible for return to 102 participants. Average time to initial recontact attempt was 5.8 years. Recontact attempts reached 95 of 102 individuals. Results were returned to 57 participants. The remainder passively declined (25), actively declined (11), were lost to follow-up (5), were deceased (3), or had prior knowledge of the result (1). Return of results was positively associated with education status (2 × 3 C

conclusionThe interest in receiving SFs was high at the time of consenting, but a clinically validated result was returned to just over half of the individuals with an SF. Approximately 1 in 3 participants with an SF who had consented to receive them subsequently actively or passively declined receipt of the result. Given the health importance of return of SF, minimizing the time from consent to results return and tailoring outreach to education level may optimize uptake of SF return.

Indexed as

Genetics, MedicalGenomicsAdultAgedFemaleGenetic TestingHumansMaleMiddle AgedResearch cohortSecondary findingsVariant classification

Identifiers

PMID40613270
PMCPMC13366468

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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.