Kim Adams RN BN Masters candidate kim adamseasternhealth

Kim Adams, RN, BN Masters candidate kim. adams@easternhealth. ca Holly Etchegary, Ph. D holly. etchegary@med. mun. ca TPMI Research Day October 8, 2015

� Access to genetic testing is currently restricted for practitioners outside of the medical genetics specialty � In NL, the current practice of accessing genetic testing requires all patients to be assessed and counseled by a genetic counselor prior to test being ordered

� Of course! - counselors have the training and clinical expertise other healthcare professionals or non-specialists don’t � In an ideal world, every person at risk would be able to receive this specialized knowledge and counseling in a timely manner � But this often doesn’t happen – we have an unmatched demand capacity – we think! We need to better understand the demand

� This potentially causes significant delays in care � Increased anxiety while the patient waits � Significant back-log within the health care system �Current wait times for access to the counsellors range from 6 months to 3 years, depending on disease, followed by a further delay if a specialist appointment is necessary

� To describe the current referral process from point of entry to provision of testing � To clearly document wait times for each component of the genetic testing process � To clearly identify barriers to accessing genetic testing, from both providers and patients’ perspectives � To explore alternatives to the current genetic testing process

� Kim Adams, Masters student � Current access and barriers to genetic testing: A one year incident cohort study in the cardiac genetic clinic. � Colorectal cancer : Current access and barriers to genetic testing in an incident cohort referred for testing

Goals and Objectives � Cleary define the process from point of entry for the referral to provision of testing � Determine wait times for each component of the genetic testing process in cardiac disease and in cancer, and the barriers to testing for referrals made since 2012 � Determine through a questionnaire the optimal configuration for the genetic testing process so policy can be recommended � Develop a standard referral form for access to the Provincial Medical Genetics Program

� Holly Etchegary, Clinical Epidemiology � Universal tumor screening for Lynch syndrome: Perspectives of key stakeholders regarding benefits and barriers � Phillip Hickey, Masters candidate Clin Epi, will be working on this project

� Identifying individuals at risk for LS is important since early and frequent surveillance reduces morbidity and mortality � However, many high-risk individuals remain unidentified - and therefore uninformed about prevention strategies � Emerging consensus on the practice of screening all newly diagnosed cases of CRC for LS, a process referred to as “universal screening. ”

� Despite the emerging consensus for universal tumor screening, there is currently no: �endorsement of a specific screening method �no current standard of care regarding the process of LS screening, informed consent protocols, and follow-up procedures for those whose tumors test positive �very little data from Canada; what we have shows variable practice �very little data from key stakeholders (patients and healthcare providers) about their views

� To convene an expert panel for study duration; ultimately, help draft recommendations that might guide the implementation of a universal tumor screening program for NL � To explore the use of universal tumor screening in Canada (online survey Canadian labs) � To survey newly diagnosed CRC patients and genetic counselors about their perceptions of universal tumor screening, including the need for (and preferred form of) consent

�Grant application submitted (early Oct) �Research Team: Elizabeth Dicks, Daryl Pullman, Ken Kao, Andree Macmillan �Grant proposal for larger program of research being fleshed out – goal of submitting in 2016 and being linked to the TPMI

� Genetics, Ethical, Economic, Environmental, Legal and Social issues � Focused on cardiac, ovarian and colorectal speciality areas in medical genetics � Ultimately, these projects are all concerned with how best to identify high-risk families in the province and how best to manage them once identified