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DOI 10.1016/j.gim.2025.101444

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2025

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

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

СтатьяПоддержка NIH: внешняя программаПеревод в очереди

Аннотация

PURPOSE: The 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.

METHODS

In 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.

RESULTS

Most 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.

CONCLUSION

The 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.

Для цитирования: Omorodion Jacklyn O, Nathan Aparna, Lipsitz Stuart, Koyama Satoshi, Perez Emma, Green Robert C, Natarajan Pradeep, Gold Nina B. Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias.. Genetics in medicine : official journal of the American College of Medical Genetics. 2025. DOI: 10.1016/j.gim.2025.101444.

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