Dr Rosie O Shea, PhD, Principal Genetic Counsellor, Cancer Genetic Service, Trinity St James Cancer Institute, St James Hospital leads the Irish Cancer Society funded study which aims to improve access to cascade genetic testing in the cancer genetic service in St James Hospital. Cascade genetic testing occurs in families where a known cancer predisposition gene is found and is associated with a high lifetime cancer risk. A two-year wait exists for family members to access genetic counselling for cascade genetic testing in the service. Innovate service delivery solutions are required to overcome the access delay and the downstream effect of delayed cancer prevention and screening. This research project will develop and evaluate an alternative pilot digital cascade genetic testing pathway for those at high risk of inheriting a cancer pre-disposition gene.

The research findings will develop an understanding of the acceptability and feasibility of an alternative digital cascade testing pathway in hereditary cancer care. This foundational information will allow for future implementation strategies to ensure timely access to genetic testing and counselling and increase the identification of those with hereditary cancer. The scalability of the new pathway could reduce cancer occurrence by promoting cancer prevention and screening strategies in high risk families, enhancing hereditary cancer survivorship care.

The findings of the research will inform the implementation of the HSE - NCCP Hereditary Cancer Model of Care and can be leveraged to inform the future scale up of genomics into population based cancer screening programs. The award brings timely focus to Genetic Counsellors, an allied health profession with limited visibility and recognition in Irish healthcare, and is an exemplar being the first to be awarded to a genetic counsellor.

Rosie’s collaborators on this important study include Dr. Emer Guinan, Associate Professor in Cancer Rehabilitation and Survivorship, School of Medicine, Trinity College Dublin,  Prof Karen Cadoo, Consultant Oncologist and Cancer Geneticist, Clinical Lead Cancer Genetic Service, St James Hospital, Prof Alanna Rahm, Genetic Counsellor, Gesinger Institute, Pennsylvania USA, Dr Terri McVeigh, Consultant Geneticist, Cancer Genetic Service, Royal Marsden Hospital, London, UK, Roberta Horgan and Pat Fahey, Lynch syndrome Ireland patient support group and Alekkyha Narravula, Genetic Counsellor, CEO and founder of GeneLinx.

Commenting on the research project, Dr O Shea said: “Improving access to cascade cancer genetic testing in high risk hereditary cancer families is important.  This research will enable us to ascertain how we can improve the pathway to genetic testing through digital health solutions”.










Dr Rosie O'Shea