Evidence map›Paper›PMID 40653477›Full record

ArticleBreast cancer research : BCR2025

The impact of a mainstream genetic testing pathway and socioeconomic factors on the uptake of germline genetic testing in breast cancer patients: results of the nationwide GENE-SMART study.

Chiem Leonardo de Jong, Sabine Siesling, Ghita Carola Wilhelmina Maria Puts, Agnes Jager, Margreet Geertruda Elia Maria Ausems

Abstract read
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Article in Breast cancer research : BCR, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Mainstreaming genetic testing in community oncology settings.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2026
    Article
  5. Clinical predictors ofFrontiers in oncology · 2026
    Article
  6. Review
  7. Article
  8. Current Status and Challenges ofCancer diagnosis & prognosis
    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

5 authors.

Chiem Leonardo de JongDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, Netherlands.
Sabine SieslingDepartment of Research and Development, Netherlands Comprehensive Cancer Organisation (IKNL), Utrecht, Netherlands.
Ghita Carola Wilhelmina Maria PutsDepartment of Research and Development, Netherlands Comprehensive Cancer Organisation (IKNL), Utrecht, Netherlands.
Agnes JagerDepartment of Medical Oncology, Erasmus University MC Cancer Institute, Dr. Molewaterplein 40, PO Box 2040, Rotterdam, 3000 CA, Netherlands.
Margreet Geertruda Elia Maria AusemsDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, Netherlands. m.g.e.m.ausems@umcutrecht.nl.

Funding

AstraZeneca aznl202300195
6 · The paper itself

Abstract

backgroundGenetic testing in breast cancer patients is important for the patient's local and systemic treatment choices and follow-up, as well as for their family members. Not all eligible patients currently undergo genetic testing and disparities persist in genetic testing uptake. It is unknown on the large scale whether pre-test counselling by non-genetic healthcare professionals (HCPs)-mainstream genetic testing (MGT) - improves overall genetic testing uptake and reduces disparities. We examined the impact of MGT on germline genetic testing uptake in general and in subgroups of socioeconomic status (SES) in particular.

methodsIn this retrospective nationwide cohort study, we selected all breast cancer patients from the Netherlands Cancer Registry who were eligible for genetic testing according to patient and tumour characteristics under the Dutch guidelines and who were diagnosed between 1-Jan-2017 and 31-Dec-2022. The primary outcome was genetic testing uptake. The influence of MGT and SES on overall uptake and uptake across different SES levels was evaluated using chi-squared tests and multivariable logistic regression analyses.

resultsA total of 12,071 breast cancer patients were included. Overall genetic testing uptake was 67%: 78% for MGT versus 63% in referral to a genetics department (RGD) (p < 0.001) with significantly higher odds of receiving genetic testing for MGT versus RGD (OR 2.48, 95% CI 2.14-2.87). Patients with low SES showed significantly lower odds of receiving genetic testing compared to those with a high SES (OR 0.71, 95% CI 0.61-0.83). In MGT, no significant difference was found between low and high SES in the likelihood of receiving genetic testing (OR 0.75, 95% CI 0.50-1.13).

conclusionsMGT significantly increases genetic testing uptake among all eligible patients and across all SES subgroups, strongly encouraging further implementation of MGT. Educating HCPs about current disparities in genetic testing is essential to improve health equity in breast cancer care.

Indexed as

Breast NeoplasmsGenetic TestingGerm-Line MutationAdultAgedFemaleGenetic CounselingGenetic Predisposition to DiseaseHumansMiddle AgedNetherlandsRegistriesRetrospective StudiesSocioeconomic FactorsBreast cancerDisparitiesGenetic testingMainstream genetic testing.Socioeconomic status

Identifiers

PMID40653477
PMCPMC12257806

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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.