Evidence map›Paper›PMID 30951675›Full record

ArticleAmerican journal of human genetics2019

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.

Yvonne Bombard, Kyle B Brothers, Sara Fitzgerald-Butt, Nanibaa' A Garrison, Leila Jamal, Cynthia A James, Gail P Jarvik, Jennifer B McCormick, Tanya N Nelson, Kelly E Ormond and 6 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 3 pooled it
17.8field-weighted citation impact, top 1% of its field
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

68 citing papers in PubMed, 3 syntheses or guidelines pooled it, 124 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

8 more citing papers are in PubMed but not listed here.

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

16 authors at 13 institutions in 3 countries.

Yvonne BombardSocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada. Electronic address: yvonne.bombard@utoronto.ca.
Kyle B BrothersSocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
Sara Fitzgerald-ButtNational Society of Genetic Counselors, Chicago, IL 60611, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
Nanibaa' A GarrisonSocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98101, USA.
Leila JamalSocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; National Society of Genetic Counselors, Chicago, IL 60611, USA; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
Cynthia A JamesNational Society of Genetic Counselors, Chicago, IL 60611, USA; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.
Gail P JarvikExecutive Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Jennifer B McCormickSocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Humanities, College of Medicine, Pennsylvania State University, Hershey, PA 17033, USA.
Tanya N NelsonCanadian College of Medical Geneticists, Kingston, ON K7K 1Z7, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Kelly E OrmondSocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford University, Stanford, CA 94305, USA.
Heidi L RehmDepartment of Pathology, Harvard Medical School, Boston, MA 02115, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Medical and Populations Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Julie RicherCanadian College of Medical Geneticists, Kingston, ON K7K 1Z7, Canada; Department of Pediatrics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON K1H 8L1, Canada; University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Emmanuelle SouzeauCanadian Association of Genetic Counsellors, Oakville, ON L6J 7N5, Canada; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA 5042, Australia.
Jason L VassyDepartment of Pathology, Harvard Medical School, Boston, MA 02115, USA; Department of Medicine, Harvard Medical School and Brigham and Women's Hospital, Boston, MA 02115, USA; VA Boston Healthcare System, Boston, MA 02130, USA.
Jennifer K WagnerSocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Center for Translational Bioethics and Health Care Policy, Geisinger Health System, Danville, PA 17822, USA.
Howard P LevySocial Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.
American Society of Human Genetics · USNational Society of Genetic Counselors · USBrigham and Women's Hospital · USBroad Institute · USFlinders University · AUGeisinger Health System · USJohns Hopkins Medicine · USJohns Hopkins University · USPennsylvania State University · USSeattle Children's Hospital · USSt. Michael's Hospital · CAUniversity of British Columbia · CAUniversity of Ottawa · CA

Funding

Penn State Clinical and Translational Science InstituteUL1TR002014 · NCATS · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI KRASCHNEWSKI, JENNIFER L. · 2016 to 2025
$33.7M
Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARTIN, CHRISTA LESE, REHM, HEIDI L · 2013 to 2020
$26.9M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Global Alliance for Genomic Health (GA4GH)U01HG008676 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LENNON, NIALL JOHN, REHM, HEIDI L · 2015 to 2019
$8.6M
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
$3.6M
Genomics and Native Communities: Perspectives, Ethics, and EngagementK01HG008818 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GARRISON, NANIBAA' A · 2016 to 2020
$819k
Clinical safety and efficacy of pharmacogenetics in Veteran careIK2CX001262 · VA · VA BOSTON HEALTH CARE SYSTEM · PI VASSY, JASON L · 2016 to 2021
–
CIHRCSRD VA IK2 CX001262NCATS NIH HHS UL1 TR002014NHGRI NIH HHS K01 HG008818NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008676NHGRI NIH HHS U41 HG006834
6 · The paper itself

Abstract

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.

Indexed as

Duty to RecontactAustraliaCanadaDuty to WarnEthics, ResearchEuropeGenetics, MedicalGenetic TestingGenomicsHumansLiability, LegalResearch SubjectsSocieties, MedicalUnited Statesgeneticsgenetics policygenomicsparticipantsrecontactresearch

Identifiers

PMID30951675
PMCPMC6451731
OpenAlexW2933624173

What OpenQuestion 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 OpenQuestion graph.