Storify: Should Whole Genome Sequencing Be the Standard for Rare Disease?

November 2, 2015



By Bio-IT World Staff

November 2, 2015 | Bioinformatics Twitter — one of the curiously hyperactive niches of the vast Twittersphere — is abuzz today about the appropriate standard for diagnosing patients with unknown rare diseases. The controversy started a week ago during #GenomicsChat, a regular tweet chat about the use of genomics in healthcare. Elizabeth Worthey, who works at the HudsonAlpha Institute for Biotechnology as Director of Informatics, made a point about where clinical genomics is headed:

 

A few days later, Deanna Church of Personalis chimed in to ask about the cost/benefit analysis — whether it might not be better to default to sequencing the exome for higher coverage at a lower price. What followed was a long and discursive conversation that gets right into the weeds of what is practical, and what is ethical, in genomic medicine today. Different threads of the discussion have taken on the difference in diagnostic success between genome and exome sequencing; whether imputation of variants is changing the calculus; the power of insurance companies to set the standards, and whether geneticists can and should push back; and whether the moral imperative is to deliver the most complete test for the patient, or the most bang for the health system's buck. Standing up most strongly for the narrower exome sequencing today is Daniel MacArthur of the Broad Institute:

 

If you're interested in how clinicians are using the genome to diagnose previously unsolvable cases, and where those discoveries run into practical limits, there's plenty here to chew over, and lots of expert voices chiming in. We've worked the conversation into a Storify, which you can read at storify.com/bioitworld/wes-vs-wgs.