This is the title of a talk I will be giving at the Faraday Institute at St. Edmund’s College in Cambridge at 1.00pm on Thursday 27th of January 2011. This talk is given in a personal capacity. I have adapted its abstract for this blog.
In this talk I would like to introduce some of the current techniques that are becoming common place in clinical genetics practice. I will then introduce the work done for diagnosis of rare genetic diseases. On the one hand extreme care must be taken to protect patient’s identity while on the other, there is a huge need for sharing this information with the research community in order to advance our understanding of genetic disorders. Here I will briefly present some reflections on identity protection of personal genome data which I deal with on a daily basis. In the last part of my talk I will discuss potential ethical issues that this kind of research is leading to, including topics related to prenatal diagnosis and selection of human embryos through to dealing with incidental genetic findings.