Evidence map›Paper›PMID 40260668›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025

Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias.

Jacklyn O Omorodion, Aparna Nathan, Stuart Lipsitz, Satoshi Koyama, Emma Perez, Robert C Green, Pradeep Natarajan, Nina B Gold

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, 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

8 authors.

Jacklyn O OmorodionDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.
Aparna NathanDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.
Stuart LipsitzDivision of General Internal Medicine, Brigham and Women's Hospital, Boston, MA.
Satoshi KoyamaProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA.
Emma PerezDepartment of Medicine, Brigham and Women's Hospital, Boston, MA; Mass General Brigham Personalized Medicine, Cambridge, MA.
Robert C GreenProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA; Department of Medicine, Brigham and Women's Hospital, Boston, MA; Ariadne Labs, Boston, MA; Department of Medicine, Harvard Medical School, Boston, MA.
Pradeep NatarajanProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA; Department of Medicine, Harvard Medical School, Boston, MA.
Nina B GoldDepartment of Pediatrics, Harvard Medical School, Boston, MA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA. Electronic address: ngold@mgh.harvard.edu.

Funding

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
Genome-first approach to treatable genetic conditions in adultsK08HG012811 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Nina Beth Gold · 2023 to 2026
$883k
NCATS NIH HHS U01 TR003201NHGRI NIH HHS K08 HG012811
6 · The paper itself

Abstract

purposeThe National Comprehensive Cancer Network (NCCN) recommends germline genetic testing for individuals at risk for hereditary ovarian cancer. We sought to determine the proportion and characteristics of individuals meeting testing criteria in a multicenter biobank who were appropriately offered testing.

methodsIn this retrospective cohort study, we identified Mass General Brigham Biobank participants meeting genetic testing criteria per NCCN guidelines. Logistic regression was used to analyze sociodemographic factors associated with which participants were offered testing, completed testing, and had a family history that matched their self-report documented in the electronic medical record.

resultsMost eligible participants (909/1441, 63.1%) were not offered genetic testing. Participants who were Black or Hispanic had a lower likelihood of being offered testing. Compared with self-report, 988 (68.6%) participants had a family history of ovarian cancer documented in their electronic medical record. Older age, Hispanic ethnicity, and public insurance use were associated with decreased likelihoods of accurate family history documentation. Correct documentation was associated with an increased likelihood of being offered testing.

conclusionThe majority of participants in this study did not receive NCCN-compliant care. Germline genetic testing for hereditary ovarian cancer screening is underutilized and access to this testing is currently inequitable.

Indexed as

Genetic TestingGuideline AdherenceHealthcare DisparitiesOvarian NeoplasmsAdultAgedBlack or African AmericanFemaleGenetic Predisposition to DiseaseGerm-Line MutationHispanic or LatinoHumansMiddle AgedRetrospective StudiesWhiteHealth disparitiesHereditary cancer predispositionOvarian cancer

Identifiers

PMID40260668
PMCPMC12229756

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.