UCC School of Nursing and Midwifery Annual Report 2020

Translating Evidence & Innovation for Health

The unmet need in Cancer Genetic Services: conducting an environmental scan of the cancer genetics services in an Irish context underpinned by a mixed methods approach

This study seeks to use a multifaceted environmental scanning approach to hear about healthcare professionals, patients, family members and members of the public experiences of cancer genetic services in an Irish context. This will be complemented by a systematic review of the international empirical literature. Findings: It is apparent from engaging directly with service users that waiting lists exist at every point on the pathway for people who need genetic services. For those who may have a genetic risk of cancer, the wait times for access to testing alone (before counselling treatment, prophylactic surgery etc.) can be up to 2 years. Barriers to accessing cancer genetic services include costs of tests, long processing time for referrals to tests, restrictive referral criteria, and difficulty in accessing information on cancer genetic services.

The number of individuals diagnosed with cancer annually is on the rise. Inherited genetic mutations play a major role in about 5 to 10 percent of all cancers, though the contribution to individual cancers varies widely. A proportion of cancers are familial and involve mutations of multiple susceptibility genes that increase an individual’s risk of cancer. Researchers have associated mutations in specific genes with more than 50 hereditary cancer syndromes. The assessment of an individual’s genetic profile plays a critical role across the continuum of cancer care from screening to the use of targeted therapies. A large proportion of the work of any cancer genetic service is the management of familial colorectal, breast and ovarian cancer, and these areas exemplify opportunities for increased access to gene testing and follow-up support in the first instance. A reduction in the life-time burden caused by cancer can be achieved by implementing enhanced surveillance and timely evidence-based interventions. Even with improvements in the understanding of the role of genetic information in cancer care, health care providers globally face many challenges in providing uniform access to timely genetically guided health and oncology care. Progress towards more individualised and family-centered oncology care requires enhanced understanding of genetic and genomic information by patients, their health care providers and policy makers.

The report is being launched in Spring of 2021.

The team: Dr Sarah Jane Flaherty, Sophia Egan, Maisie May Jones, Chidilim Odisigo, Shelly Chakraborty, David O’Reilly and Dr Mohamad M. Saab

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