Inadequacies in genetic testing referrals and counseling in prostate cancer.

Abstract

43 Background: Recent studies have recognized the high prevalence of germline mutations in genes affecting DNA repair in patients with prostate cancer. In recognition of their growing clinical significance, the NCCN guidelines recommend genetic counselling in prostate cancer pts with certain risk factors. The application of these guidelines in clinical practice were evaluated. Methods: All new clinic visits of prostate cancer pts at UAB from January 2019 – June 2019 were identified and analyzed. We constructed a flow diagram of the UAB two-step referral model, and performed a chart review and analyzed the new clinic visits. We then sent a 10-item questionnaire to providers at UAB to collect information on germline genetic testing patterns, general approach to testing, and the barriers of GC, and actions to overcome barriers. Results: From January to June 2019, 57 new prostate cancer patients were seen, of which 23 had metastatic disease, 20 had high or intermediate risk localized disease and remaining had biochemical recurrence. In total, 38 had an indication for GC. The most common indication was metastatic disease in 23 pts (40%) and localized high risk in 15 pts (26%). Significantly 33% of 24 patients with early onset prostate cancer < 60 yrs did not meet NCCN defined criteria for testing. Only 39% of the 38 eligible patients were referred, with testing completed in 11% of those with indications. The response rate to the survey was 91%. 30% of respondents reported that they would be comfortable completing genetic counseling themselves, and the most commonly reported barrier to providing the testing themselves was time, and lack of expertise/experience. 70% percent of providers cited that lack of genetics workforce was a barrier to genetic testing, and 60% cited lack of knowledge of genetic testing and genetics and the inadequate coordination of referrals were barriers. Conclusions: While a majority of prostate cancer patients seen in the oncology clinic meet criteria for GC, referrals are inconsistent, and only a handful of eligible patients complete testing. From the survey results, the areas that need to be improved from the provider’s side are education and comfort with genetic testing. From a systems perspective, the need for more genetics workforce, and better process workflows are required to improve the uptake of Genetic Testing Referral and Testing. The interventions of practice transformation and education need to be implemented, and tested at UAB to improve adherence to the NCCN guidelines for genetic testing of prostate cancer.

Characterizing Referrals for Prostate Cancer Genetic Services in a Safety-Net Hospital

“…For example, a small study at the University of Alabama at Birmingham (UAB) found that 39% of the 38 eligible patients with prostate cancer in 2019 were referred to genetics services. 18,19 The UAB cohort reported that 11% of referred patients received testing, similar to our cohort's 12% rate of genetic testing after counseling. 18 Other studies, such as a University of California, San Francisco (UCSF)-based study, found the proportion of those tested after counseling was much higher, at 60%.…”

“…18,19 The UAB cohort reported that 11% of referred patients received testing, similar to our cohort's 12% rate of genetic testing after counseling. 18 Other studies, such as a University of California, San Francisco (UCSF)-based study, found the proportion of those tested after counseling was much higher, at 60%. 15 Notably, the UCSF sample was predominantly White (76%), while both the study conducted at UAB and this study had higher proportions of Black patients (32% and 44%, respectively) and are not National Cancer Institute–designated comprehensive cancer centers.…”

Management of metastatic castration-resistant prostate cancer in Middle East African countries: Challenges and strategic recommendations

“…About 70% of respondents cited that lack of genetics workforce and lack of knowledge (60%) were barriers to genetic testing. [ 20 ] The 2019 Philadelphia Prostate Cancer Consensus advocated the utilization of digital health technologies such as phones and video telemedicine for facilitating access. It also recommends using hybrid service models encompassing balanced responsibilities between physicians and geneticists, alongside multidisciplinary collaboration between geneticists and clinicians to determine the best approach.…”

“…NCCN and other consensus guidelines elucidate key criteria such as metastatic disease or strong family history to screen and identify patients. [ 16 17 18 19 20 21 ] GGWG suggests that patient-completed family history questionnaires or automated electronic medical records can facilitate referral and testing processes. Insurance and out-of-pocket cost for patients are crucial elements for propagating genetic testing.…”

“…The NCCN guidelines recommend considering BRCA1, BRCA2, ATM, PALB2, CHEK2, MLH1, MSH2, MSH6, and PMS2 for testing; however, the Philadelphia consensus included HOXB13 and DNA MMR genes. [ 16 17 18 19 20 21 ] GGWG recommends that factors such as insurance networks, laboratory billing practices, follow-up testing options for family members, turnaround times, and availability of genetic counseling services are deciding factors for genetic testing. Evidence has shown low awareness and knowledge of genetic counseling, and testing for cancer susceptibility among ethnic minority groups and socioeconomically disadvantaged individuals may result in anxiety.…”