In the last decade there has been a complete frameshift in the testing and diagnosis of monogenic diseases, brought about by the era of massively parallel sequencing.  Previously, genetic testing was slow and expensive, and involved sequencing one gene at a time – assuming that the disease gene was known.   Discovering the disease gene was also a slow process, and depended on recruiting families with multiple affected individuals. Now, in the era of massively parallel sequencing, thousands of genes can be sequenced simultaneously.  This has completely changed the possibilities for gene mapping and genetic screening.

This talk focuses on how whole exome sequencing can be used to evaluate individuals for mutations in previously described genes and also interrogate the data to identify new genes for autosomal recessive and autosomal dominant conditions. The relevance of this technology for rare and common diseases in bone clinics will be discussed.