Application of bioinformatics, precision illustration
Application of bioinformatics in support of precision medicine

Application of bioinformatics in support of precision medicine

By Mike Furness and John Wise

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.

The European Union in vitro diagnostic regulation (EU IVDR) came into force in May 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.

As such, in April 2018 the Pistoia Alliance, a global, not-for-profit alliance of life science companies, technology suppliers, publishers and academic groups that work together to lower barriers to innovation in life science 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 sharing needed to be enhanced viz:

- Applying NGS technologies in precision medicine.
- Application of bioinformatics in support of precision medicine.
- Aligning research standards with clinical standards for precision medicine.

This article is based on the presentations and discussion of a symposium that was held in March 2019 on the theme of ‘Application of Bioinformatics in support of Precision Medicine’....

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