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Informatics


Application of bioinformatics in support of precision medicine


Bioinformatics has played a major role in gene sequencing diagnostics and has been an essential tool to investigate the genetic causes of disease.With the support of new technologies and tools, bioinformatics can play an important part in the support and continued development of precision medicine.


By Mike Furness and JohnWise


T


he European Union in vitro diagnostic reg- ulation (EU IVDR) came into force inMay 2017 and will come into effect in May


2022.Much work needs to be done to realign CDx R&D processes from the requirements of the old Directive 98/79/EC to the rigours of the new Regulation (EU) 2017/746 and its enhanced demands for CE Marking* (terms marked with an * are described in Table 1). As such, in April 2018 the Pistoia Alliance, a global, not-for-profit alliance of life science companies, technology sup- pliers, publishers and academic groups that work together to lower barriers to innovation in life sci- ence R&D and healthcare, formed a community of interest (CoI) on Companion Diagnostics, Next Generation Sequencing and Regulation (CDx/NGS and Regulation)1 to consider the many challenges facing the diagnostics industry and to contribute to knowledge sharing within the community. The CoI identified three main areas where knowledge shar- ing needed to be enhanced viz:


● Applying NGS technologies in precision medicine. ● Application of bioinformatics in support of pre- cision medicine. ● Aligning research standards with clinical stan- dards for precision medicine.


56


This article is based on the presentations and


discussion of a symposium that was held inMarch 2019 on the theme of


Bioinformatics in support of Precision Medicine’.


An introduction to the biology underpinning clinical bioinformatics In the last few years there has been a rapid devel- opment in NGS sequencing technology and a sub- stantial increase in the capacity to generate genom- ic sequence data, along with a significant decrease in costs. The cost of sequencing the first whole human genome*, completed in 2001, was estimat- ed at $2.7 billion2. Veritas Genetics3 is now citing the costs of whole genome sequencing to be $599 and the same company is reported to be predicting the $99 genome will become available in the next three to five years. At that price, whole genome sequencing (WGS) would become an affordable standards component in patient care. This increase in productivity and cost-effective-


ness has led to a growth in genomic sequencing projects to levels where there are now dozens of research and clinical genome projects running across the world4. These projects are now includ- ing more clinical data with the genomics data and these data sets are being analysed by research bioinformatics teams in pharmaceutical companies


Drug DiscoveryWorld Summer 2019 ‘Application of


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