Evidence map›Paper›PMID 34429410›Full record

ArticleNPJ genomic medicine2021

Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.

Kurt D Christensen, Erica F Schonman, Jill O Robinson, J Scott Roberts, Pamela M Diamond, Kaitlyn B Lee, Robert C Green, Amy L McGuire

Abstract read
In one paragraph

Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
–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

10 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026
    Article
  4. Genetic risk disclosure and behavioural change: not so fast.European journal of preventive cardiology · 2026
    Article
  5. Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Review
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

8 authors.

Kurt D ChristensenPRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA. kurt_christensen@harvardpilgrim.org.ORCID http://orcid.org/0000-0003-4068-776X
Erica F SchonmanDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Jill O RobinsonCenter for Medical Ethics and Health Policy at Baylor College of Medicine, Houston, TX, USA.
J Scott RobertsDepartment of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, MI, USA.
Pamela M DiamondCenter for Health Promotion and Prevention Research, University of Texas Houston School of Public Health, Houston, TX, USA.
Kaitlyn B LeeCenter for Medical Ethics and Health Policy at Baylor College of Medicine, Houston, TX, USA.
Robert C GreenBroad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8472-0424
Amy L McGuireCenter for Medical Ethics and Health Policy at Baylor College of Medicine, Houston, TX, USA.

Funding

Harvard Clinical and Translational Science CenterUL1TR001102 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2013 to 2017
$106.2M
Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Precision Medicine Policy and Treatment (PreEMPT) Model IIR01HD090019 · NICHD · HARVARD PILGRIM HEALTH CARE, INC. · PI Kurt Derek Christensen · 2017 to 2026
$5.7M
Cost-effectiveness of Whole Genome Sequencing of Healthy AdultsK01HG009173 · NHGRI · HARVARD PILGRIM HEALTH CARE, INC. · PI CHRISTENSEN, KURT DEREK · 2016 to 2020
$626k
Harvard Catalyst (Harvard Clinical and Translational Science Center) UL1-TR001102NCATS NIH HHS UL1 TR001102NHGRI NIH HHS K01 HG009173NHGRI NIH HHS U01 HG006500NICHD NIH HHS R01 HD090019U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) R01-HD090019U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) K01-HG009173U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01-HG006500
6 · The paper itself

Abstract

Many expect genome sequencing (GS) to become routine in patient care and preventive medicine, but uncertainties remain about its ability to motivate participants to improve health behaviors and the psychological impact of disclosing results. In a pilot trial with exploratory analyses, we randomized 100 apparently healthy, primary-care participants and 100 cardiology participants to receive a review of their family histories of disease, either alone or in addition to GS analyses. GS results included polygenic risk information for eight cardiometabolic conditions. Overall, no differences were observed between the percentage of participants in the GS and control arms, who reported changes to health behaviors such as diet and exercise at 6 months post disclosure (48% vs. 36%, respectively, p = 0.104). In the GS arm, however, the odds of reporting a behavior change increased by 52% per high-risk polygenic prediction (p = 0.032). Mean anxiety and depression scores for GS and control arms had confidence intervals within equivalence margins of ±1.5. Mediation analyses suggested an indirect impact of GS on health behaviors by causing positive psychological responses (p ≤ 0.001). Findings suggest that GS did not distress participants. Future research on GS in more diverse populations is needed to confirm that it does not raise risks for psychological harms and to confirm the ability of polygenic risk predictions to motivate preventive behaviors.

Identifiers

PMID34429410
PMCPMC8384838

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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.