Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.

INTRODUCTION: The high demand for genetic tests and limited supply of genetics professionals has created a need for alternative service delivery models. Digital tools are increasingly being used to support multiple points in the genetic testing journey; however, none are transferable across multiple clinical specialties and settings nor do they encompass the entire trajectory of the journey. We aim to evaluate the effectiveness of the Genetics Adviser, an interactive, patient-facing, online digital health tool that delivers pre-test counselling, provides support during the waiting period for results, and returns results with post-test counselling, encompassing the entire patient genetic testing journey. METHODS AND ANALYSIS: We will compare the Genetics Adviser paired with a brief genetic counselling session to genetic counselling alone in a randomised controlled trial. One hundred and forty patients who previously received uninformative genetic test results for their personal and family history of cancer will be recruited from familial cancer clinics in Toronto and offered all clinically significant results from genomic sequencing. Participants randomised into the intervention arm will use the Genetics Adviser to learn about genomic sequencing, receive pre-test counselling, support during the waiting period and results, supplemented with brief counselling from a genetic counsellor. Participants in the control arm will receive standard pre-test and post-test counselling for genomic sequencing from a genetic counsellor. Our primary outcome is decisional conflict following pre-test counselling from the Genetics Adviser+genetic counsellor or counsellor alone. Secondary outcomes include: knowledge, satisfaction with decision-making, anxiety, quality of life, psychological impact of results, empowerment, acceptability and economic impact for patients and the health system. A subset of patients will be interviewed to assess user experience. ETHICS AND DISSEMINATION: This study has been approved by Clinical Trials Ontario Streamlined Research Ethics Review System (REB#20-035). Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals. TRIAL REGISTRATION NUMBER: NCT04725565.

Pregnant during the COVID-19 pandemic: an exploration of patients' lived experiences.

BACKGROUND: Infectious outbreaks are known to cause fear and panic. Exploration of pregnant individuals' psychosocial condition using a qualitative lens during an infectious outbreak is limited. In this study we explore pregnant individuals' lived experiences as well as their psychological and behavioural responses during COVID-19 with the goal of providing useful strategies from the patient's perspective to enable health care providers to help pregnant patients navigate this and future pandemics. METHODS: Pregnant individuals between 20-weeks gestation and 3 months postpartum who received maternity care from an urban academic interprofessional teaching unit in Toronto, Canada were invited to participate. Semi-structured 60 min interviews were audio-recorded, transcribed and analyzed using descriptive thematic analysis. Interview questions probed psychological responses to the pandemic, behavioural and lifestyle changes, strategies to mitigate distress while pregnant during COVID-19 and advice for other patients and the healthcare team. RESULTS: There were 12 participants, mean age 35 years (range 30-43 years), all 1 to 6 months postpartum. Six main themes emerged: 1) Childbearing-related challenges to everyday life; 2) Increased worry, uncertainty and fear; 3) Pervasive sense of loss; 4) Challenges accessing care; 5) Strategies for coping with pandemic stress; 6) Reflections and advice to other pregnant people and health care professionals. Pregnant individuals described lack of social support due to COVID-19 pandemic restrictions and a profound sense of loss of what they thought their pregnancy and postpartum period should have been. Advice to healthcare providers included providing mental health support, clear and up to date communication as well as more postpartum and breastfeeding support. CONCLUSIONS: These participants described experiencing psychosocial distress during their pregnancies and postpartum. In a stressful situation such as a global pandemic, health care providers need to play a pivotal role to ensure pregnant individuals feel supported and receive consistent care throughout the pregnancy and postpartum period. The health care provider should ensure that mental health concerns are addressed and provide postpartum and breastfeeding support. Without addressing this need for support, parental mental health, relationships, parent-infant bonding, and infant development may be negatively impacted.