This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Monday, February 3, 2020

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS





The British National Health Service (NHS) have been working since 2013, on a project to integrate genomics with clinic applications. Their goal is to sequence 100,000 human genomes, which as of the time this article was published, they have already sequenced 55,000, and have 70,000 participants. They achieved their 100,000 genome goal in December 2018 according to their website. This article showed an interesting beginning to incorporating genomic data into clinic medicine and identified current organisational problems and pitfalls of discrepancies between the two. For instance, the current preferred way of preparing tumours for microscopy using formalin, can degrade DNA, making it harder to access tumour DNA. Secondly clinical records are not standardised across all part of the UK, so it become more difficult to extract diagnostic data.

The project has focused on rare inherited diseases and cancer cases. Rare inherited disease are categorised as diseases that affect less than 1 in 2000 people, and are notoriously difficult and laborious to diagnose. The paper reports a 22% diagnostic rate for rare inherited diseases, similarly 20-25% on their website and findings that 50% of cancer cases can be forwarded for clinical and genetic therapy trials.

Jack Richardson - Pot-luck



Paper: http://dx.doi.org/doi:10.1136/bmj.k1687
Website: https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/



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