My career has explored, from multiple different perspectives, the impact of genomics on people. Genomics refers to the study of a person’s 20,000 or so genes. Given the almost infinite ways that people can be genetically different to each other, genomic research often needs to be done on a very large scale in order to be able to interpret the significance of findings, particularly a rare genetic change. So, Big Data and Genomics go hand in hand.
To give you an example, I’m currently part of the Deciphering Developmental Disorders (DDD) project at the Sanger Institute which seeks to offer cutting edge genomic testing to 12,000 children from the NHS with severe, complex, physical and/or intellectual disability. These children have exceptionally rare conditions that their doctors may never have seen before. Using an online database that contains large sets of health and biological data, the DDD project has managed to match specific genetic results with children at opposite ends of the UK, and has found a new diagnosis in more than 30% of the children tested so far. This would not have been possible, at the scale and rate we have seen so far, if there hadn’t been the prior collection, linking and storing of biomedical data from similarly affected children.
My current research has gathered the views of just under 7,000 people on how they think genomic research studies could be conducted.
The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.