Evidence map›Paper›PMID 37535880›Full record

ArticleJCO precision oncology2023

Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.

Neelam V Desai, Elizabeth D Barrows, Sarah M Nielsen, Kathryn E Hatchell, Michael J Anderson, Eden V Haverfield, Blanca Herrera, Edward D Esplin, Anneke Lucassen, Nadine M Tung and 1 more

Open access · hybridAbstract read
In one paragraph

Article in JCO precision oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 17% of its field
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

5 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Review
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

11 authors at 5 institutions in 4 countries.

Neelam V DesaiLevine Cancer Institute, Atrium Health, Charlotte, NC.ORCID 0000-0001-8641-0542
Elizabeth D BarrowsDivision of Hematology-Oncology, MedStar Georgetown University Hospital, Washington, DC.ORCID 0000-0002-6082-3610
Sarah M NielsenInvitae Corp, San Francisco, CA.ORCID 0000-0002-5916-6393
Kathryn E HatchellInvitae Corp, San Francisco, CA.ORCID 0000-0003-0849-7018
Michael J AndersonInvitae Corp, San Francisco, CA.ORCID 0000-0003-1393-3590
Eden V HaverfieldInvitae Corp, San Francisco, CA.ORCID 0000-0002-2126-0982
Blanca HerreraInvitae Corp, San Francisco, CA.
Edward D EsplinInvitae Corp, San Francisco, CA.ORCID 0000-0001-9205-3756
Anneke LucassenDepartment of Clinical Ethics and Law at Southampton, University of Southampton, Southampton, United Kingdom.ORCID 0000-0003-3324-4338
Nadine M TungDivision of Hematology-Oncology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA.ORCID 0000-0003-1422-3734
Claudine IsaacsDivision of Hematology-Oncology, MedStar Georgetown University Hospital, Washington, DC.ORCID 0000-0002-9646-1260
Invitae (United States) · USGeorgetown University · USBeth Israel Deaconess Medical Center · USCentre for Human Genetics · GBLevine Cancer Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeAmong cancer predisposition genes, most direct-to-consumer (DTC) genetic tests evaluate three Ashkenazi Jewish (AJ) founder mutations in

methodsIndividuals were referred to genetic testing for personal diagnoses of breast and/or ovarian cancer (clinical cohort) or were self-referred (nonindication-based cohort). There were 348,692 participants in the clinical cohort and 7,636 participants in the nonindication-based cohort. Both cohorts were analyzed for

results

conclusionDTC genetic testing misses >90% of

Indexed as

BRCA1 ProteinOvarian NeoplasmsBRCA2 ProteinEarly Detection of CancerFemaleGenetic Predisposition to DiseaseGenetic TestingHumansRetrospective StudiesBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID37535880
PMCPMC10581610
OpenAlexW4385516288

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.