Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis

Lin, Jenny; Sharaf, Ravi; Saganty, Rachel; Ahsan, Muhammad Danyal; Feit, J.; Khoury, Andrea; Bergeron, Hannah; Chapman‐Davis, Eloise; Cantillo, Evelyn; Holcomb, Kevin; Blank, Stephanie V.; Liu, Ying; Thomas, Charlene; Christos, Paul J.; Wright, Drew; Lipkin, Steven M.; Offit, Kenneth; Frey, M.K.

doi:10.1016/j.ygyno.2021.05.011

Cited by 54 publications

(48 citation statements)

References 64 publications

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“…Ovarian cancer traceback testing approaches have the potential to address a significant care gap in identifying individuals and families at increased genetic risk for cancer. Genetic counseling and testing rates in ovarian cancer patients are known to be low [39]. Given that approximately 80% of women are diagnosed with metastatic disease, the course of disease can be short and leave little time for genetic testing to occur [40].…”

Section: Discussionmentioning

confidence: 99%

Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

Kauffman

Prado

Reyes

et al. 2021

JPM

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Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to identify individuals with inherited high-risk cancer variants. For deceased individuals, post-mortem genetic testing of pathology specimens allows surviving family members to receive important genetic risk information. The Genetic Risk Assessment in Ovarian Cancer (GRACE) study aims to address this significant healthcare gap using a “traceback testing” approach to identify individuals with a prior diagnosis of ovarian cancer and offer genetic risk information to them and their family members. This study will assess the potential ethical and privacy concerns related to an ovarian cancer traceback testing approach in the context of patients who are deceased, followed by implementation and evaluation of the feasibility of an ovarian cancer traceback testing approach using tumor registries and archived pathology tissue. Descriptive and statistical analyses will assess health system and patient characteristics associated with the availability of pathology tissue and compare the ability to contact and uptake of genetic testing between patients who are living and deceased. The results of this study will inform the implementation of future traceback programs.

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Section: Discussionmentioning

confidence: 99%

Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

Kauffman

Prado

Reyes

et al. 2021

JPM

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“…Overall, we appreciate that Lin et al ( Lin, 2021 ) confirmed that we have not yet achieved universal genetic assessment for women with ovarian cancer, however we would like to stress that reflex BRCA1/2 tumor testing as a prescreen for a germline genetic test is much more effective in reaching this goal than they present and can be considered as a very useful approach.…”

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confidence: 90%

“…Recently, a systematic review and meta-analysis by Lin et al ( Lin, 2021 ) highlighted that genetic testing rates for women with ovarian cancer remain poor, and the effects of several interventions were reported. We truly appreciate the authors efforts on combining existing literature in an important overview to emphasize that women with ovarian cancer are not yet universally genetically tested in spite of recommendations.…”

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confidence: 99%

“…Lin et al ( Lin, 2021 ) identified two articles that report on the intervention of reflex BRCA1/2 tumor testing in women with ovarian cancer. Their meta-analysis presents the collective effectivity of the intervention in terms of genetic testing completion rates.…”

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confidence: 99%

“…Additionally, the workflow reduces the number of patients that are tested both on tumor and germline DNA. Furthermore, it might reduce the uneven distribution of genetic testing rates among people with varying ethnicities or educational levels currently present ( Lin, 2021 ). In our experience, the tumor BRCA1/2 test can successfully be expanded to include other ovarian cancer risk genes.…”

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confidence: 99%

See 2 more Smart Citations

Universal genetic assessment for women with ovarian cancer not yet achieved: The promises of universal tumor DNA testing

Witjes

Vos²,

Ligtenberg

et al. 2021

Gynecologic Oncology Reports

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Germline Genetic Testing After Cancer Diagnosis

Kurian

Abrahamse

Furgal

et al. 2023

JAMA

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ImportanceGermline genetic testing is recommended by practice guidelines for patients diagnosed with cancer to enable genetically targeted treatment and identify relatives who may benefit from personalized cancer screening and prevention.ObjectiveTo describe the prevalence of germline genetic testing among patients diagnosed with cancer in California and Georgia between 2013 and 2019.Design, Setting, and ParticipantsObservational study including patients aged 20 years or older who had been diagnosed with any type of cancer between January 1, 2013, and March 31, 2019, that was reported to statewide Surveillance, Epidemiology, and End Results registries in California and Georgia. These patients were linked to genetic testing results from 4 laboratories that performed most germline testing for California and Georgia.Main Outcomes and MeasuresThe primary outcome was germline genetic testing within 2 years of a cancer diagnosis. Testing trends were analyzed with logistic regression modeling. The results of sequencing each gene, including variants associated with increased cancer risk (pathogenic results) and variants whose cancer risk association was unknown (uncertain results), were evaluated. The genes were categorized according to their primary cancer association, including breast or ovarian, gastrointestinal, and other, and whether practice guidelines recommended germline testing.ResultsAmong 1 369 602 patients diagnosed with cancer between 2013 and 2019 in California and Georgia, 93 052 (6.8%) underwent germline testing through March 31, 2021. The proportion of patients tested varied by cancer type: male breast (50%), ovarian (38.6%), female breast (26%), multiple (7.5%), endometrial (6.4%), pancreatic (5.6%), colorectal (5.6%), prostate (1.1%), and lung (0.3%). In a logistic regression model, compared with the 31% (95% CI, 30%-31%) of non-Hispanic White patients with male breast cancer, female breast cancer, or ovarian cancer who underwent testing, patients of other races and ethnicities underwent testing less often: 22% (95% CI, 21%-22%) of Asian patients, 25% (95% CI, 24%-25%) of Black patients, and 23% (95% CI, 23%-23%) of Hispanic patients (P &lt; .001 using the χ2 test). Of all pathogenic results, 67.5% to 94.9% of variants were identified in genes for which practice guidelines recommend testing and 68.3% to 83.8% of variants were identified in genes associated with the diagnosed cancer type.Conclusions and RelevanceAmong patients diagnosed with cancer in California and Georgia between 2013 and 2019, only 6.8% underwent germline genetic testing. Compared with non-Hispanic White patients, rates of testing were lower among Asian, Black, and Hispanic patients.

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Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis

Cited by 54 publications

References 64 publications

Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

Universal genetic assessment for women with ovarian cancer not yet achieved: The promises of universal tumor DNA testing

Germline Genetic Testing After Cancer Diagnosis

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