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Abstract
Advanced genomic tests are becoming an integral part of clinical care. The main advantage of these tests is their increased detection rate compared to traditional tests. Yet the detailed examination of the genome also means increased probability of identifying variants of uncertain clinical significance and secondary findings (i.e. pathogenic variants not related to the condition for which testing was initiated). Consequently, unlike in the past, when people could choose whether or not to be tested, policy today ranges from full disclosure of all results, to tailoring the results to individuals' request. Using advanced genomic tests carried out in pregnancy, empirical data will be presented about Israeli healthcare professionals', parents', and post-partum women's attitudes toward disclosure policy, as well as their experience with individual choice. Implication for policy will be discussed whilst comparing practices in various countries.
Bio Shiri Shkedi-Rafid, PhD
Dr Shiri Shkedi-Rafid is the director for the genetic counselling master program at the Hebrew University of Jerusalem, and a principal genetic counsellor at the Hadassah Medical Centre, Jerusalem. In her research, she is focusing on the implementation of advanced genomic technologies into clinical practice with special reference to genomic tests carried out in pregnancy, and cancer genetics.
Shiri achieved a BSc (Hons) in Basic Medical Sciences in 2000 and an MSc in Human Genetics, specializing in genetic counselling (Hons) in 2003, both from the Hebrew University of Jerusalem, Israel.
In her doctoral work, which was undertaken at the Hebrew University and at King’s College London, she focused on genetic testing in individuals with no family history of the tested condition.
Shiri did her post-doctoral research at CELS (Clinical Ethics and Law at Southampton), UK. She studied health-care professionals’ attitudes towards pre-natal genomic technologies.
