Doctor of Philosophy in Medical Genetics (PhD)
A mixed methods evaluation of lived experiences, adaptation, and identity development in adolescents with genetic conditions
Psychiatric disorders are complex conditions that – in broad terms – arise as a result of genetic and environmental vulnerability factors acting together. Progress is now being made towards understanding the causes of these conditions more specifically, and there is an urgent need to translate this into benefit for individuals with psychiatric disorders and their families.
The overall objective of my program of research is to use a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families.
In honour of #GreatSupervisor week at #UBC, a huge thank you to @J9_Austin for challenging, supporting and inspiring me every day. You are an incredible mentor, not only in science and genetic counselling, but also career, life and everything in between! #GCchat
Qualities of excellent researchers, mentors, and leaders -- @JenniferLoveUBC #WHRISym18 @J9_Austin #greatsupervisor
Do I have a #GreatSupervisor at #ubc? Hell ya! @J9_Austin is not only a superstar researcher and leader, she’s a superstar supervisor! So glad I could help celebrate her with the Killam teaching prize this year! @ubcprez @UBCmedicine
Dissertations completed in 2010 or later are listed below. Please note that there is a 6-12 month delay to add the latest dissertations.
Problem: Depression during pregnancy affects 10-15% of women. Practice guidelines recommend that clinicians support women to make treatment decisions that are informed by the risks of both untreated depression and antidepressant use during pregnancy. However, there is minimal evidence regarding how women make these decisions or how clinicians can best support them. Purpose: To advance knowledge and understanding regarding women’s decision making about perinatal depression treatment through qualitative (QUAL) and quantitative (QUANT) studies. The QUAL purpose was to develop a constructivist grounded theory, within a feminist theoretical framework, of women’s perinatal depression treatment decision making. The QUANT purpose was to test the hypothesis that women with deleterious variants in the pharmacogenes CYP2D6 or CYP2C19, taking selective serotonin reuptake inhibitors (SSRIs) prenatally, would have more depression symptoms than women whose pharmacogenetic variants have been associated with normal SSRI metabolism. Methods (QUAL): Semi-structured interviews were conducted with purposively-sampled, pregnant/preconception women who had experienced depression. Iterative data collection and analysis, along with theoretical sampling, in the context of reflexive journaling, peer debriefing, and expert audit, culminated in a cohesive theoretical model. Methods (QUANT): Testing of CYP2D6 and CYP2C19 were performed as secondary analyses on two longitudinal cohorts of pregnant women taking SSRIs. The Kruskal-Wallis Test compared mean depression scores across four predicted metabolizer groups: 1) poor, 2) intermediate, 3) extensive, and 4) ultra-rapid. Results (QUAL): Participants’ (N=31) decision-making processes were complex and dynamic, and highly influenced by contextual factors - particularly stigma, patriarchy, privilege, and their emotional/cognitive environments. Participants navigated towards a decision, in a non-linear manner, between three clusters of decision-making activities: 1) seeking information, 2) making sense of information, and 3) self-soothing.Results (QUANT): There were no significant differences between mean depression scores across the four metabolizer groups (N=83; H(3)=.73, p=.87).Conclusions: The grounded theory provides insight into how women have made this decision, which can be useful both practically and emotionally. Evidence from the pharmacogenetic study clarifies the limitations of this field, which is especially vital in this era of direct-to-consumer genetic testing. Together, they can support patient-oriented decision making regarding perinatal maternal mental health.
Theses completed in 2010 or later are listed below. Please note that there is a 6-12 month delay to add the latest theses.
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.