Grant: Foundation Grant

Genomics; Health Policy; Health Services Research; Health Technology Assessment; Interdisciplinary Research; Knowledge Translation; Personalized Medicine; Public & Patient Engagement; Qualitative Methods; Survey Methods

<html> <body> <p> <b>Research program:</b> New genomic technologies (GT), such as whole genome/exome sequencing (WG/ES), offer exciting opportunities to advance diagnosis, treatment and prevention by assessing hundreds of disease risks in one test. Health care providers (HCP) are increasingly using WG/ES to target treatment for their patients. However, WG/ES may incidentally reveal inherited risks for hundreds of current and future diseases. Guidelines recommend HCP inform patients of certain incidental results, raising critical questions about WG/ES&rsquo;s benefits and harms, impact on health outcomes and health services (HS) use. My program addresses critical knowledge gaps on the values, health outcomes and costs of integrating these GT into clinical practice. The objectives of my program are to: 1) develop clinical tools to translate new GT into practice; 2) evaluate the benefits &amp; risks of new GT; and 3) examine the impact of new GT on HS.<br> <br> <b>Anticipated results:</b> My program will generate timely, high quality evidence on the values, health benefits and economic costs of adopting WG/ES in the clinic. These data provide direct inputs into practice guidelines, health technology assessment (HTA) and policies currently grappling with the clinical adoption of these technologies. Specifically, our <b>qualitative research</b> will provide a detailed understanding of patients&rsquo; knowledge needs, values and preferences for learning incidental WG/ES results. We will develop a patient-centered <b>decision aid</b> (DA) to support patients&rsquo; decisions about learning incidental WG/ES results when their tumours or genomes are sequenced. Our DA will be evaluated, implemented through a <b>stakeholder workshop</b> and then distributed to clinics as part of our knowledge translation (KT) strategy. Our <b>RCT</b> will generate fundamental, high-quality evidence on the psychological harms &amp; personal utility of learning incidental WG/ES results. The RCT will directly inform our <b>economic evaluation</b> of WG/ES, addressing a key gap and criteria in HTAs. Our <b>surveys</b> will project patient uptake of WG/ES, associated HS use &amp; providers&rsquo; perceived barriers to clinical integration of WG/ES. This information will be used to project HS use patterns (e.g. physician visits, laboratory and imaging services etc.), inform clinical guidelines &amp; health delivery planning (e.g. capacity and resource needs) to ensure high quality care.<br> <br> <b>Assembled expertise:</b> I am an interdisciplinary genomics HS &amp; policy researcher (HSPR) with training in medical genetics, cancer genomics, HTA, patient &amp; public engagement, qualitative and quantitative methods. I have assembled <b>disciplinary</b> expertise in genomics, health law &amp; policy, cancer genomics, WG/ES, HSPR, HTA, health behaviour and psychology. I will also work with <b>professionals</b> (clinical geneticists, genetic counsellors &amp; medical oncologists) to provide WG/ES to patients. I will use rigorous, mixed methods and will collaborate with <b>methodological</b> experts in RCTs, discrete choice experiments, decision science, economic evaluation, KT, patient education &amp; health media.<br> <br> <b>Training activities:</b> I plan to build a team of 5 undergraduate, 3 MSc and 2 PhD students &amp; 1 Fellow. These trainees will directly participate in my interdisciplinary genomics HSPR program to develop research, administrative &amp; management skills, which will position them for successful careers in academic research and policy/HTA to generate and assess the evidence base for personalized genomic medicine.</p> </body> </html>