Abstract for presentation at 11th International Congress of Human Genetics

Newfoundland and Labrador is an isolated province on the east coast of Canada. The current population of 500,000 arose from a group of 20-30,000 settlers in the 18th century. This strong founder effect has led to decades of research into rare recessive and dominant disorders, many of which occur at high frequency. Some studies have raised complex ethical issues. 1.DUTY TO WARN WITH REGARD TO GENETIC RESEARCH RESULTS: Several lethal monogenic disorders have been studied (e.g. cardiomyopathies, malignancies) where linked markers (defined through research) provide carrier testing, and where effective treatment is available. Some subjects have refused to hear their results, or share information with at-risk relatives. For serious disorders therefore, with high recurrence risks and available treatment, we have modified our research protocol. We have added one inclusion criterion: that subjects agree to receive their results and to share pertinent health information with at-risk family members. 2. THE LINK BETWEEN GENETIC RESEARCH AND CLINICAL CARE: External research teams have, at times, accessed the Newfoundland population, with no obligation to provide clinically important results or to ensure relevant clinical follow-up. Several incidents have lead to the creation of Canada’s only provincial ethics board to supervise all human research. 3. BENEFIT SHARING: Research funded by commercial sponsors has occasionally used subjects with rare disorders from isolated communities to clone causative disease genes. This has lead to provincially commissioned position papers on equitable benefit sharing. Steps to implement new practice guidelines for such corporations and research efforts are anticipated. The foregoing issues have changed the way genetics research is conducted in Newfoundland, creating a better environment for both researchers and those affected by genetic disease.