Evidence map›Paper›PMID 36524987›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023

Words matter: The language of difference in human genetics.

Mildred K Cho, Maria Laura Duque Lasio, Ina Amarillo, Kevin Todd Mintz, Robin L Bennett, Kyle B Brothers

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Antiracism in biomolecular research.Analytical and bioanalytical chemistry · 2023
    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

6 authors.

Mildred K ChoStanford Center for Biomedical Ethics, Stanford University, Stanford, CA; Departments of Medicine and Pediatrics, Stanford University, Stanford, CA. Electronic address: micho@stanford.edu.
Maria Laura Duque LasioDivision of Genetics & Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO; Division of Laboratory and Genomic Medicine, Department of Pathology & Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.
Ina AmarilloDepartment of Pathology and Laboratory Medicine, Penn State College of Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, PA.
Kevin Todd MintzStanford Center for Biomedical Ethics, Stanford University, Stanford, CA.
Robin L BennettDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA.
Kyle B BrothersNorton Children's Research Institute Affiliated with the University of Louisville, Louisville, KY.

Funding

The Stanford Training Program in ELSI ResearchT32HG008953 · NHGRI · STANFORD UNIVERSITY · PI Mildred K. Cho, Meghan Halley · 2016 to 2026
$3.1M
NHGRI NIH HHS T32 HG008953
6 · The paper itself

Abstract

Diversity, equity, and inclusion efforts in academia are leading publishers and journals to re-examine their use of terminology for commonly used scientific variables. This reassessment of language is particularly important for human genetics, which is focused on identifying and explaining differences between individuals and populations. Recent guidance on the use of terms and symbols in clinical practice, research, and publications is beginning to acknowledge the ways that language and concepts of difference can be not only inaccurate but also harmful. To stop perpetuating historical wrongs, those of us who conduct and publish genetic research and provide genetic health care must understand the context of the terms we use and why some usages should be discontinued. In this article, we summarize critiques of terminology describing disability, sex, gender, race, ethnicity, and ancestry in research publications, laboratory reports, diagnostic codes, and pedigrees. We also highlight recommendations for alternative language that aims to make genetics more inclusive, rigorous, and ethically sound. Even though norms of acceptable language use are ever changing, it is the responsibility of genetics professionals to uncover biases ingrained in professional practice and training and to continually reassess the words we use to describe human difference because they cause harm to patients.

Indexed as

Genetic ResearchPublishingDelivery of Health CareGender IdentityHuman GeneticsHumansDisabilityEquityInclusivityRace and ethnicitySex and gender

Identifiers

PMID36524987
PMCPMC9991958

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.