Doctor of Philosophy in Medical Genetics (PhD)
A mixed methods evaluation of lived experiences, adaptation, and identity development in adolescents with genetic conditions
Health Implementation Science
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Introduction In British Columbia (BC), the institution responsible for funding out-of-province genetic testing (clinical genetic tests not provided by BC laboratories) changed as of June 1st 2018, from the Medical Services Plan (MSP) public health insurance to the BC Agency for Pathology and Laboratory Medicine (BCAPLM). This study aimed to investigate the effect of this changeover, by examining the trends in out-of-province testing and uptake of patient out-of-pocket (OOP) pay, from January 1st 2015 to December 31st 2019. This study also aimed to explore relationships between patient OOP pay and variables such as clinical indication, postal code, and income.Methods De-identified patient data was received from the BC Provincial Medical Genetics Program (PMGP) and the BC Cancer Hereditary Cancer Program (HCP). To examine the effect of the change in funding authority on out-of-province testing, an interrupted time series analysis was performed using PMGP data. Regression analysis using HCP data was carried out to explore the relationships between OOP pay with patient and test characteristics.Results The number of out-of-province tests completed through the PMGP, and the number of tests completed through the HCP, rose year-on-year between 2015 and 2019, with increases of 260% and 320%, respectively. Under MSP, the total number of out-of-province tests did not exhibit a statistically significant change (mean difference per month, 0.33; 95% CI -0.37, 1.02). Under BCAPLM, the number of tests increased by 2.35 per-month (95% CI 1.03, 3.66). In particular, the volume of known mutation tests, panel tests, and exome singletons increased considerably following the changeover. The likelihood of a patient having an OOP payment decreased by 87% under BCAPLM (95% CI 0.06, 0.32). For each year studied, patients who paid OOP had average annual income at least $3500 higher those who received funding, indicating that patients with lower incomes were less likely to pay OOP.Conclusions While many factors contribute to the demand for and coverage of clinical genetic testing, for example emerging data about the utility of exome sequencing for singletons vs. trios, coverage of out-of-province genetic and genomic testing has improved in BC since the introduction of BCAPLM.