Evaluation of a mainstream genetic testing program for women with ovarian or breast cancer

Abstract

Introduction: Mainstream genetic testing refers to genetic testing arranged by a patient's treating specialist. The aim of this study was to retrospectively review a Sydney-based ovarian cancer mainstream genetic testing program. Methods: A Cancer Genetics Service (CGS)-supported mainstream genetic testing program was commenced in 2015. The CGS provided training, paperwork and ongoing and adaptable advice regarding appropriate genes for testing and interpretation of results. Written and electronic medical records were reviewed until August 2019 to assess patient and family history characteristics, genetic testing eligibility, results and posttest management for women who had testing coordinated via mainstreaming or by the CGS.Results: Genetic testing was arranged for 289 women with ovarian cancer. Prior to 2017, 44% of genetic tests were mainstreamed, compared with 76% of tests from 2017 onwards. CGS was more likely to arrange testing for women with a strong family history of cancer and nonserous pathology. Germline pathogenic variants were detected in 13.7% (19/138) of women who had mainstream testing and 20.3% (14/69) of women tested by the CGS. Referral for posttest counseling occurred for pathogenic variant carriers identified through mainstreaming. Conclusion:This study demonstrated successful uptake of a mainstream ovarian cancer genetic testing program by medical oncologists, as evidenced by higher proportion and absolute numbers of eligible ovarian cancer patients accessing genetic testing through this pathway over time. The genetic testing criteria were appropriately assessed by oncologists and posttest referral occurred where required.

An Australian mainstream genetic testing program: Clinicians views about current and future practices

“…Since the conception of the ovarian cancer mainstreaming program in 2015, an increasing proportion of ovarian cancer patients who pursue genetic testing had their test initiated by their non-genetics specialist, with a pathogenic variant detection rate of 13.7%. 14 Clinicians' ability to identify eligible patients and appropriate post-test management reflects the success of the current program. The current program builds on the evidence that cancer patients with an increased probability of having a cancer predisposition syndrome benefit from mainstream testing, with the support of the CGS when needed, similar to other ovarian mainstreaming programs within Australia, 12,13 the UK, the United States, Italy, and Spain.…”

“…Details of the ovarian cancer mainstreaming program and outcomes between 2015 and 2019 for the seven hospitals are described previously 14 . The outcomes and acceptability of the prostate cancer mainstreaming program introduced in 2019 within the Sydney Local Health District (SLHD) have also been described 15 .…”

“…12,13 Recognizing the benefits of this model of care, a mainstreaming program was established in 2015 by CGS covering two Sydney-based local health districts including seven hospitals for medical oncologists treating patients with ovarian cancer. 14 The seven hospitals include public and private metropolitan and regional hospitals.…”

“…Details of the ovarian cancer mainstreaming program and outcomes between 2015 and 2019 for the seven hospitals are described previously. 14 The outcomes and acceptability of the prostate cancer mainstreaming program introduced in 2019 within the Sydney Local Health District (SLHD) have also been described. 15 Clinicians were informed about the study at educational team meetings and were emailed an invitation using the REDCap platform to participate in the online surveys by their Head of Department.…”

Challenges with mainstreaming genetic testing for metastatic prostate cancer treatment in Singapore

“…Similar mainstreaming has been trialled in other countries, 9,10 typically in cancers such as epithelial ovarian cancer, where approximately one quarter of patients have an underlying hereditary cancer syndrome. 11 A Malaysian study showed no significant differences between mainstreaming and formal genetics consultation in terms of satisfaction and psychosocial impact, with 80% of clinicians keen to integrate genetic testing into their practice.…”