ACTIVITY 2- PROGRAMS: Optimizing Patient/Test Selection and Management 

Members: Dr. Alison Elliott, Dr. Larry Lynd (Co-Leads), Dr. Nick Dragojlovic, Tasha Wainstein, Courtney Cook, Nicole Liang, Angela Siemens, Patricia Birch, Shelin Adam, Dr. Lorne Clarke, Dr. Wyeth Wasserman, Dr. Darryl Pullman, Debby Lambert

Rationale: The likelihood of GWS transforming the diagnosis, treatment, and prevention of disease has been manifest since the completion of the Human Genome Project in 2003. The technology being used to ascertain genomic information is becoming more accurate and cheaper on a daily basis and has essentially changed the way in which clinical diagnoses are approached. We have made less progress in terms of ensuring the optimum use of this tool as well as the management of the outcomes (clinically; socially; emotionally; financially) for many different groups of patients and their families. The ultimate aim of Activity Two is to investigate ways in which current and novel genetic counselling practices and processes can be optimized to accommodate the use of GWS in the clinical setting from multiple viewpoints.

Activity 2.1: Evaluating the Integration of Genetic Counsellors in Genomic Test Selection

We wish to investigate the use of a genetic counsellor test review service as a tool for genetic testing utilization management in a Canadian laboratory. To accomplish this, a genetic counsellor will be placed within existing genetic services workflow in healthcare units. We hope to capture the impact that genetic counsellor review will have on healthcare costs, appropriateness of tests being ordered, streamlining the process of testing and decreasing time wastage, and improving health care professionals’ knowledge of genetics and genomics.  Another area of necessary research will be the evaluation of barriers and facilitators imposed by insurance coverage of genetic testing and whether genetic counsellor review of insurance claims for genetic testing could be of additional benefit. 

Activity 2.2: Optimizing Patient Management

While the domains of pediatrics and oncology have been particularly strong early adopters of GWS, genomics has the potential to impact on clinical care across the entire span of the human life cycle (from pregnancy, through to infancy, childhood, adolescence, and adulthood).We continue to make strides in identifying the molecular causes of disease but many questions about the impact of this information remain unanswered. In this sub-activity, we aim to explore diverse patient cohorts (prenatal; stillbirths; neonatal; pediatric; and adult) for whom GWS has been indicated with respect to their motivations for testing; their concerns about issues like incidental findings, data sharing and privacy; and whether they experience decisional conflict or regret after having GWS. We ultimately hope to use this information to determine how best to support families who are making GWS decisions. We are also interested in comparing study groups to inform unique genetic counselling issues. This information will be used to optimize DECIDE, an online, educational and decision support tool for use along with conventional pre-test genetic counselling.