Evidence map›Paper›PMID 35576557›Full record

ReviewAnnual review of biomedical data science2022

Importance of Including Non-European Populations in Large Human Genetic Studies to Enhance Precision Medicine.

Dan Ju, Daniel Hui, Dorothy A Hammond, Ambroise Wonkam, Sarah A Tishkoff

Abstract readReview
In one paragraph

Review in Annual review of biomedical data science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 5 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

49 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Pooled it
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  5. CYP2D6 genotype and associated 5-HTClinical and translational science · 2025
    Pooled it
  6. Health inequalities in precision medicine: A systematic review.European journal of human genetics : EJHG · 2026
    Review
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  18. Advancing Precision Medicine in Inflammatory Skin Disease.American journal of clinical dermatology · 2025
    Review
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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

5 authors.

Dan JuDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; email: tishkoff@pennmedicine.upenn.edu.
Daniel HuiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; email: tishkoff@pennmedicine.upenn.edu.
Dorothy A HammondDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; email: tishkoff@pennmedicine.upenn.edu.
Ambroise WonkamDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Sarah A TishkoffDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; email: tishkoff@pennmedicine.upenn.edu.

Funding

Genetic and molecular basis for variation in human skin pigmentationR01AR076241 · NIAMS · CHILDREN'S HOSP OF PHILADELPHIA · PI MARKS, MICHAEL S, OANCEA, ELENA · 2020 to 2024
$5.5M
Integrative Genomic Analyses of Human Evolution and Adaptation in AfricaR35GM134957 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2020 to 2024
$2.7M
Return of a Fragile X Syndrome genetic result: exploring the feedback of individual genetic findings and their relation to traditional knowledge in a village in Cameroon.U54HG009790 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2017 to 2021
$2.5M
Public Understanding of Big data in Genomics Medicine in Africa (PUBGEM-Africa)U01MH127692 · NIMH · UNIVERSITY OF CAPE TOWN · PI MUNUNG, NCHANGWI SYNTIA, WONKAM, AMBROISE · 2021 to 2025
$1.9M
Drivers of genetic heterogeneity and their impact on polygenic risk predictionF31HG011813 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI JU, DAN · 2021 to 2021
$46k
NHGRI NIH HHS F31 HG011813NHGRI NIH HHS U54 HG009790NIAMS NIH HHS R01 AR076241NIGMS NIH HHS R35 GM134957NIMH NIH HHS U01 MH127692
6 · The paper itself

Abstract

One goal of genomic medicine is to uncover an individual's genetic risk for disease, which generally requires data connecting genotype to phenotype, as done in genome-wide association studies (GWAS). While there may be clinical promise to employing prediction tools such as polygenic risk scores (PRS), it currently stands that individuals of non-European ancestry may not reap the benefits of genomic medicine because of underrepresentation in large-scale genetics studies. Here, we discuss why this inequity poses a problem for genomic medicine and the reasons for the low transferability of PRS across populations. We also survey the ancestry representation of published GWAS and investigate how estimates of ancestry diversity in GWASparticipants might be biased. We highlight the importance of expanding genetic research in Africa, one of the most underrepresented regions in human genomics research, and discuss issues of ethics, resources, and technology for equitable advancement of genomic medicine.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHuman GeneticsHumansPrecision MedicineAfricadiversityGWAShuman genomicspolygenic risk scoreprecision medicine

Identifiers

PMID35576557
PMCPMC9904154

What OpenQuestion 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 OpenQuestion graph.