Joanne Ngeow

Leveraging Electronic Health Records to Examine the Real-World Rates of Cancer Genetics Referrals in a Singapore Health Care Cluster

PURPOSE Identifying patients with hereditary cancer syndromes through genetics referral enhances early detection and reduces healthcare costs. Despite potential benefits, genetics referral rates globally, including Singapore, remain low. This study investigates the real-world rates of genetics referrals in eligible cancer patients at Singapore’s largest healthcare cluster using Electronic Health Records. METHODS Referral criteria for genetics referrals were based on international guidelines. The institution’s data repository was queried for eligible patients with relevant diagnosis codes from 2017 to 2021. We assessed genetics clinic attendance among eligible patients to evaluate referral rates. Variations in referral rates over time were analysed using linear regression and two-tailed t -test. RESULTS Of the 10,080 patients eligible for a genetics referral, 17.1% (1719) were referred to a cancer genetics clinic. Breast, ovarian, colorectal, and endometrial cancers accounted for 42.9%, 33.5%, 11.3%, and 8.6% of referrals, respectively. Other tumour types accounted for 3.7% of referrals. Referral rates for suspected Hereditary Breast and Ovarian Cancer syndrome (HBOC)-related cancers were higher (19.4%) than referrals for suspected Lynch syndrome (11.9%). Among HBOC referrals, women (20.7%) were more likely to be referred than males (7.8%). From 2017 to 2021, we found an increase in referral rates for HBOC (12.8%-28.6%, P = .005) but not for Lynch syndrome-related indications (7.7%-13.5%, P = NS). The increase in referral rates for suspected HBOC in women was more significant than in men ( P = .03). CONCLUSION This study found lower referral rates for Lynch syndrome than HBOC, and identified a gender discrepancy, with men with HBOC being less likely to be referred. Efforts to increase referral rates should include raising clinician awareness and electronically identifying suspected cases, especially for male breast cancer and Lynch Syndrome.

Factors shaping at‐risk individuals’ decisions to undergo genetic testing for cancer in Asia

This study aims to enrich our understanding of factors influencing medically indicated at-risk individuals' decisions to take genetic tests (or not) in the context of cancer treatment and prevention. While previous studies have explored this topic in communities in Europe and the United States, we know relatively little about the situation in Asia. In this study, we conducted in-depth interviews with 24 women who underwent genetic testing for hereditary breast and ovarian cancer syndromes in Singapore. Grounded theory with thematic analysis was applied. Six encouraging and three discouraging factors are identified in the analysis. The six encouraging factors are: desire to create awareness for self and family; perceived benefits for self and family; strong family history of cancer; presence of family support; medical professional recommendation and adequate amount of time to consider undertaking the test. The three discouraging factors are: high costs of tests; perceived lack of ability to cope with test results; and insufficient information about genetic testing. Taken together, the findings in this study add to the current literature by providing empirical evidence regarding the importance of holding family included pre-test counselling and providing adequate time for patients to decide to undergo genetic testing for hereditary cancer syndromes.