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

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.

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.

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).

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.