The 16 page article has some 140 references. For a 45-minute Youtube talk by the author, filmed earlier in 2016, see here.
Ashley, EA (2016). Towards Precision Medicine. Nature Reviews Genetics 17:507-22. doi:10.1038/nrg.2016.86
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Note - the article is not open access.
For links to four or five oppositely positioned articles - the gaps in precision medicine - see here.
Coincidence - I ran across the citation to Ashley's review in a recent San Diego Union article on precision medicine, here.
Abstract
There is great potential for genome sequencing to enhance patient care through improved diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential, genomics strategies that have been developed for genetic discovery — including DNA-sequencing technologies and analysis algorithms — need to be adapted to fit clinical needs. This will require the optimization of alignment algorithms, attention to quality-coverage metrics, tailored solutions for paralogous or low-complexity areas of the genome, and the adoption of consensus standards for variant calling and interpretation. Global sharing of this more accurate genotypic and phenotypic data will accelerate the determination of causality for novel genes or variants. Thus, a deeper understanding of disease will be realized that will allow its targeting with much greater therapeutic precision.
Author's Background
Euan A. Ashley
Center for Inherited Cardiovascular Disease,
Falk Cardiovascular Research Building,
Stanford Medicine, 870 Quarry Road, Stanford, California 94305, USA.
Competing interests statement
E.A.A. is a co-founder of, and an advisor at, Personalis Inc.
Ashley Lab Webpage:
http://ashleylab.stanford.edu/
Author details
Born and raised in Scotland, Euan A. Ashley graduated with 1st class Honours in physiology and medicine from the University of Glasgow, UK. He completed medical residency and a Ph.D. in molecular physiology at the University of Oxford, UK, before moving to Stanford University, California, USA, where he trained in cardiology and advanced heart failure, joining the faculty in 2006.
His group is focused on precision medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The team extended the approach in 2011 to a family of four and now routinely applies genome sequencing to the diagnosis of patients at Stanford hospital, USA, where Euan Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease.
In 2013, he was recognized by the White House Office of Science and Technology Policy for his contributions to personalized medicine. In 2014, he became co-chair of the steering committee of the US National Institutes of Health Undiagnosed Diseases Network.
He is co-Principal Investigator of the MyHeartCounts study, which was launched in collaboration with Apple in 2015.