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Identifying Disparities in Referral for Hereditary Cancer Genetic Testing in a Population Eligible for Targeted Therapy  

Cancer Genetics and Therapeutics
  • Primary Categories:
    • Genetic Counseling
  • Secondary Categories:
    • Genetic Counseling
Introduction:
A growing number of oncology patients meet NCCN criteria for hereditary cancer genetic testing to assess the potential benefit of targeted therapies, such as PARP inhibitor or immunotherapy. Despite advancements in precision medicine, including higher quality, lower cost, and wider availability of multigene panels, genetic counseling referral rates and testing uptake remain low.  

Methods:
In order to identify barriers to genetic counseling referral, a retrospective chart review of 798 eligible patients seen at a community-based hospital with a diagnosis of metastatic breast cancer (n=205), serous ovarian cancer (n=90), pancreatic adenocarcinoma (n=307), or metastatic prostate cancer (n=197) was completed. Patients who received their diagnosis between January 1, 2020, through December 31, 2022, were included.  Selected patient demographics, including age at diagnosis, race, distance from primary hospital, and insurance type were collected and compared against referral rates. 

Results:
Overall, only 31% of patients across cancer types were referred: 70% of serous ovarian cancer, 29% of metastatic breast cancer, 26% of pancreatic adenocarcinoma, and 22% of metastatic prostate cancer cases. There were no statistically significant findings for ovarian cancer patients, who had consistently high referral rates regardless of age, insurance status, race, and location. This could reflect physician familiarity and comfortability with longstanding NCCN guidelines indicating genetic testing to assess for PARP-inhibitor eligibility for the treatment of epithelial ovarian cancer. 

Metastatic breast and prostate cancer patients diagnosed under age 60 (br: p <.0001; pr: p=0.01) or with private insurance versus governmental insurance ((br: p <.002; pr: p<.002) were more likely to be referred for genetic consultation. 52% of patients under age 60 with metastatic breast cancer received a genetics referral, compared to only 17% of patients over 60. This discrepancy is likely influenced by more recent approval of PARP inhibitors for use in the treatment of metastatic breast cancer and the age requirement for testing eligibility for patients without metastatic disease.  PARP inhibitor use in metastatic prostate cancer was also more recently approved, however, testing criteria for non-metastatic disease involves high-risk pathology, not age.  

For pancreatic cancer cases, only self-reported race was identified as a statistically significant factor affecting referral rates. Pancreatic cancer patients who identified as white (p = 0.01) were about twice as likely to be referred than patients of all other racial identities combined.  

Patient distance from the network’s primary hospital was not significant across any cancer types. This was an unexpected finding in conflict with our initial hypothesis that patients living further from the main campus would be less likely to be referred.  Hospital efforts to expand access to genetics services through the use of telehealth appointments and satellite sites may mitigate any distance-related barriers.  

Conclusion:
This study provides an update on barriers to accessing genetics services and suggests provider biases that may contribute to the low genetics referral rate. We identified several factors influencing referral rates; however, these factors were not consistent across cancer types. Given that each cancer type exhibited unique features influencing the likelihood of referral, we contend that a one size fits all approach to mediate the identified biases would not be appropriate.  

It is important to highlight that physician referral rates to genetic counseling were evaluated, not patient perceived barriers to access.  Therefore, our findings are reflective of physician perceptions regarding which patients would benefit from germline testing. All barriers identified can be mitigated by provider education and awareness.   Patient-perceived barriers following physician referral should be explored in future analysis as well as the impact of this data on clinical outcomes. 

Agenda

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