Evidence map›Paper›PMID 36913714›Full record

ReviewAnnual review of genomics and human genetics2023

Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.

Susan M Wolf, Robert C Green

Abstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

  1. Trial
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. All of Us participant perspectives on the return of value in research.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
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

2 authors.

Susan M WolfLaw School and Medical School, University of Minnesota, Minneapolis, Minnesota, USA; email: swolf@umn.edu.
Robert C GreenGenomes2People Research Program, Harvard Medical School, Mass General Brigham, Broad Institute, and Ariadne Labs, Boston, Massachusetts, USA; email: rcgreen@bwh.harvard.edu.

Funding

The New England Precision Medicine Consortium of the All of Us Research ProgramOT2OD026553 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI CLARK, CHERYL RENEE, KARLSON, ELIZABETH W · 2018 to 2023
$58.8M
Finding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6M
Return of Genomic Results and Estimating Penetrance in Population-Based CohortsR01HL143295 · NHLBI · BROAD INSTITUTE, INC. · PI CARSON, APRIL P, GREEN, ROBERT C. · 2019 to 2022
$7.2M
Precision Medicine Policy and Treatment (PreEMPT) Model IIR01HD090019 · NICHD · HARVARD PILGRIM HEALTH CARE, INC. · PI Kurt Derek Christensen · 2017 to 2026
$5.7M
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy InfantsU01TR003201 · NCATS · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C., HOLM, INGRID ADELE · 2021 to 2024
$5.1M
Experiences and Outcomes in Early Adopters of Predispositional SequencingR01HG009922 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2018 to 2020
$2.6M
NCATS NIH HHS U01 TR003201NHGRI NIH HHS R01 HG009922NHGRI NIH HHS U01 HG008685NHLBI NIH HHS R01 HL143295NICHD NIH HHS R01 HD090019NIH HHS OT2 OD026553
6 · The paper itself

Abstract

Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants that are pathogenic or likely pathogenic and actionable. Multiple guidelines recommend that findings associated with actionable conditions be offered to research participants in order to demonstrate respect for autonomy, reciprocity, and participant interests in health and privacy. Some recommendations go further and support offering a wider range of findings, including those that are not immediately actionable. In addition, entities covered by the US Health Insurance Portability and Accountability Act (HIPAA) may be required to provide a participant's raw genomic data on request. Despite these widely endorsed guidelines and requirements, the implementation of return of genomic results and data by researchers remains uneven. This article analyzes the ethical and legal foundations for researcher duties to offer adult participants their interpreted results and raw data as the new normal in genomic research.

Indexed as

GenomicsWhole Genome SequencingHealth Insurance Portability and Accountability ActHumansInformation Storage and RetrievalUnited StatesUnited States Food and Drug Administrationgenomicsincidental findingsresearch ethicsreturn of resultssecondary findingswhole genome sequencing

Identifiers

PMID36913714
PMCPMC10497726

What Socratic holds

Textmetadata
LicenceTDM
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.