Evidence map›Paper›PMID 39994405›Full record

SynthesisEuropean journal of human genetics : EJHG2025

Preferences for genetic testing among populations underrepresented in genomic research: a systematic review.

Taylor Montgomery, Madison R Hickingbotham, Hadley Stevens Smith

Abstract readSystematic Review
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

3 authors.

Taylor MontgomeryPrecision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Madison R HickingbothamPrecision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Hadley Stevens SmithPrecision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA. Hadley_smith@hphci.harvard.edu.ORCID 0000-0003-1247-6535

Funding

Heterogeneity of preferences for and outcomes of pediatric genomic sequencing by race and ethnicityR00HG011491 · NHGRI · HARVARD PILGRIM HEALTH CARE, INC. · PI SMITH, HADLEY STEVENS · 2023 to 2025
$814k
NHGRI NIH HHS R00 HG011491U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R00HG011491U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R00HG011491-03S1
6 · The paper itself

Abstract

Equitable implementation of genomic medicine requires understanding preferences of diverse populations. Stated preference methods, such as discrete choice experiments (DCEs) and conjoint analyses, allow empirical evaluation of whether and how preferences for aspects of genomic medicine tests and services differ according to demographic characteristics. We aimed to understand the extent to which stated preference research in genomic medicine includes respondents that are population representative and evidence regarding preference heterogeneity by race and ethnicity. We conducted a systematic review of the stated preference literature in genomic medicine. We searched Web of Science, CINAHL, PsycINFO, PubMed, Embase, Cochrane Library, and SCOPUS for articles published from February 2021 to November 2023, extending a previously published systematic review. We extracted information on whether demographic characteristics of respondents were reported, whether investigators tested for preference heterogeneity based on race and ethnicity, and whether preference heterogeneity by race and ethnicity was identified. We identified 138 newly published records in addition to the 38 articles included in the original review. In total, we included 18 articles that reported participants' race or ethnicity. Eight articles explicitly analyzed preferences by race and ethnicity, and preference heterogeneity was identified in two. Stated preference research in genomic medicine often does not include population representative samples, and preference heterogeneity is not frequently analyzed according to race and ethnicity. Improving the representativeness of respondent populations, which allows for better understanding of whether and how preferences may differ by population subgroups, is important to guide policy and implementation decisions in genomic medicine.

Indexed as

Genetic TestingGenomic MedicineGenomicsPatient PreferenceEthnicityHumansRacial Groups

Identifiers

PMID39994405
PMCPMC12185746

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.