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

2.  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

3.  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 and capacity – we think! We need to better understand the demand

4.  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

5.  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

6.  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

7. 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

8.  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

9.  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.”

10.  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

11.  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

12.  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

13.  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