Three Years of a New Multidisciplinary Adult Neurogenetics Clinic in Singapore

Genetic testing in neurology is playing an increasingly important role because of advances in sequencing technologies and the availability of targeted therapeutic options. In Singapore, clinical practice guidelines introduced in 2018 required genetic counseling as a part of clinical genetic testing, and a moratorium implemented in 2021 limited the use of genetic results to determine insurability. In response to these developments, we established a neurogenetics clinic staffed jointly by a neurologist and genetic counselor in September 2020. The objective of this study was to describe the patient population, referral patterns, and factors associated with the decision to undergo genetic testing and evaluate downstream management changes. We conducted a retrospective cohort review of adult patients seen at the Singapore General Hospital neurogenetics clinic between September 2020 and December 2023. Demographic, clinical, and referral data were collected, along with details on testing decisions, type of genetic tests performed, and outcomes. Logistic regression was used to explore demographic or referral factors associated with genetic testing uptake. A total of 164 patients were evaluated; 128 (78%) proceeded with genetic testing. Among the 36 who declined, cost was the predominant reason (72%), followed by insurability concerns (11%), perceived lack of clinical utility (8%), and not wishing to know the diagnosis (8%). Logistic regression showed no significant demographic or referral-related predictors of testing uptake. Of those tested, 38% had pathogenic/likely pathogenic results, 11% had variants of uncertain significance, and 51% had negative results. Clinical management was modified in 90% of those with pathogenic/likely pathogenic results and 79% with uncertain variants. Our findings demonstrate a high uptake of genetic testing in an adult neurogenetics clinic. Financial barriers remain the most significant deterrent. Genetic results had a direct impact on clinical care for most diagnosed patients, highlighting substantial clinical utility. Hence, reducing financial barriers will be essential as genetic testing becomes increasingly central to diagnosis, treatment, and management of neurologic disorders.