Over the last decade, the landscape of genomic medicine has been revolutionised by next generation sequencing technologies. In the past, genetic testing was limited to sequencing one gene at a time. However, next generation sequencing technologies permit the parallel sequencing of many or all genes. While these new technologies have greatly enhanced the chances of diagnosis for rare conditions; are beginning to provide a real chance of personalised medicine; and, in time, are likely to improve our understanding and treatment of complex disease, they are also associated with a number of challenges.
These challenges include a much greater chance of identifying genomic variants, the significance of which can be uncertain; the identification of incidental findings; genomic privacy; and the storage and use of big data sets. In this new genomic era, it is essential that healthcare professionals understand the power and all the challenges associated with the information generated by these new multiple parallel sequencing technologies, in order to make appropriate referrals and evidence-based management decisions.