Precision Health - Next Gen Sequencing in the Clinic

Dr Trevor Wilson, Next Gen Sequencing Manager, Technology Platforms attended the recent Advances in Genome Biology and Technology (AGBT) Precision Health Meeting in Phoenix Arizona.

The big outtake was how much this area is advancing and how MHTP can benefit from using this technology. Here Trevor shares some key points from the conference.

1. What was the biggest development?

The application of Next Generation Sequencing (NGS) to personalised clinical treatment is now reality.  Hospitals, especially in the USA, are using sequencing to provide diagnosis, select therapies and monitor progress.  The diseases where NGS data assist are rapidly expanding.

2. What should Hudson Institute scientists be aware of?

Despite all the research and sequencing, the latest version of the human genome is not really complete.  It consists of contigs of an average of 400kb and there have been 44 patches released to correct errors since the last version was released.  There are also 261 alternate loci not in the current reference release.

3. Something different that you learnt...

There are now over 100,000 human exomes and data available, currently increasing by over 2,000 per week. Much of these data are linked (with appropriate confidentiality structures) to ongoing electronic medical records. These now include heterozygous knockouts of 93% of coding genes and homozygous knockouts to 7% of genes – many of which have phenotypes very different to those of the same genes in animal models.

4. Where did the conference indicate that Genomic Medicine is going?

While we predict that correlation of variants with disease will improve medical outcomes. Repositories of >90million known variants now exist, integrated with functional data of altered protein function and electronic medical records.  These will rapidly expand, linking more variants with disease and becoming an accurate predictor of medical outcomes.