Evidence map›Paper›PMID 42728385›Full record

ReviewNature genetics2026

Recommendations for return of secondary genomic findings in observational cohort studies.

Iftikhar J Kullo, Carol R Horowitz, Lisa Bastarache, Benjamin Berkman, Leslie Biesecker, Kyle Brothers, April P Carson, Keith Diaz, Richard A Gibbs, Robert C Green and 15 more

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature genetics, 2026. 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
–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

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

25 authors.

Iftikhar J Kullo *Medical College of Wisconsin, Milwaukee, WI, USA. ikullo@mcw.edu.ORCID http://orcid.org/0000-0002-6524-3471
Carol R Horowitz *Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lisa BastaracheVanderbilt University Medical Center, Nashville, TN, USA.
Benjamin BerkmanNational Institutes of Health, Bethesda, MD, USA.
Leslie BieseckerNational Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-0197-3811
Kyle BrothersNorton Children's Research Institute Affiliated with the University of Louisville School of Medicine, Louisville, KY, USA.ORCID http://orcid.org/0000-0002-8550-9724
April P CarsonUniversity of Mississippi Medical Center, Jackson, MS, USA.
Keith DiazColumbia University Medical Center, New York, NY, USA.
Richard A GibbsBaylor College of Medicine, Houston, TX, USA.
Robert C GreenAriadne Labs, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8472-0424
Heather HampelCity of Hope National Medical Center, Duarte, CA, USA.ORCID http://orcid.org/0000-0001-7558-9794
Candace HenleyThe Blue Hat Foundation, Chicago, IL, USA.
Jodell E LinderVanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-0081-4712
Gail P JarvikUniversity of Washington, Seattle, WA, USA.
Sadiya S KhanNorthwestern University, Chicago, IL, USA.
Barry MakeNational Jewish Health, Denver, CO, USA.
Samuli RipattiInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-0504-1202
Mimsie RobinsonBethel Gospel Assembly, New York, NY, USA.
Juliann M SavattGeisinger, Danville, PA, USA.
Gabriel Q ShaibiCenter for Health Promotion and Disease Prevention, Edson College of Nursing and Health Innovation, Arizona State University, Phoenix, AZ, USA.
Stephen Olufemi SodekeCenter for Biomedical Research at Tuskegee University, Tuskegee, AL, USA.
Colin WiseStory Wise Science, Baltimore, MD, USA.ORCID http://orcid.org/0009-0006-4558-569X
Yuling HongNational Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Ye Yan *National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Ronit I Yarden *National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The return of secondary genomic findings (ROSF) to participants in observational cohort studies has evolved from a topic of debate to an accepted standard. This Perspective synthesizes the proceedings of a 2024 National Heart, Lung and Blood Institute-sponsored workshop and the broader literature to provide updated guidance for ROSF. Building on the 2010 National Heart, Lung and Blood Institute Working Group recommendations and the 2014 Clinical Sequencing Exploratory Research/Electronic Medical Records and Genomics 'floor and ceiling' framework, we address four areas: an integrated ethical framework for observational cohort settings; the emerging challenge of returning novel result types beyond monogenic variants, including polygenic risk scores, somatic mosaicism and pharmacogenomic findings; health equity and community engagement as structural prerequisites for ethical ROSF; and scalability challenges, including technology-assisted disclosure. Drawing on implementation experience from large-scale sequencing programs, we offer recommendations that balance researcher obligations with participant autonomy and equitable access to the benefits of genomic research.

Identifiers

PMID42728385

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.