Understanding the Patient Experience of Genetic Testing: In-Depth Patient Interviews and Questionnaires

The primary goal of our study is to understand the process and benefits of genetic counselling and testing from the patient’s perspective. Such knowledge has never before been collected in an Asian population, yet, it will benefit clinical geneticists and genetic counsellors, locally and internationally, to learn which aspects of clinical cancer genetic services that patients regard as most important and beneficial. The study will employ two phases. Firstly, one-to-one in-depth qualitative interviews with BRCA1/2 tested patients to understand the fears and concerns that patients have during the process of genetic counselling and testing. The interview questions will be designed to uncover patient’s motives for and against BRCA1/2 testing and their willingness to share their results with biological relatives. Secondly, using a validated clinical genetics-specific Patient Reported Outcome Measures (PROM), the Genetic Counselling Outcome Scale (GCOS-24), a short self-completion questionnaire designed to evaluate patient-reported benefits of genetic counselling. GCOS-24 measures patient empowerment, where patients gain greater control over decisions and actions affecting their health. GCOS-24 will be administered before and after genetic counselling to measure patient-reported outcomes derived from cancer genetic services. Qualitative interview data and quantitative PROMs data gathered in this study will be the first-of-its-kind in Singapore and will play a crucial role in evaluating clinical genetic services in Singapore. With the growing awareness and demand for clinical genetic services in Singapore, this information is necessary to assess and evaluate the clinical and economic impact of clinical genetic services before appropriate policy interventions can be designed to meet the needs of patients who require genetic screening services. Findings will also be useful to inform further development and promotion of cancer genetic services as new models of disease prevention and health promotion.