For Four Days, San Francisco’s Japan Town Was the Center of Genomics

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At the end of June I was fortunate enough to attend the second annual Clinical Genome conference, a meeting hosted by Cambridge Healthtech Institute. The conference was divided into two sections: “The Science of Investigation and Interpretation” (all about science) and “The Business of Integration and Implementation” (all about business and regulatory aspects). Kudos to the organizers for selecting a great set of speakers and a terrific location, smack in the middle of Japan Town in San Francisco, surrounded by good restaurants and a nice coffee shop right across the street. I want to share with you some of the highlights from the science section of the conference.
Let me start out with some interesting quotes I heard over the course of the first two days while attending the science section:
  • B. Korf: Genome is the library of life, and not the book of life – we can read the words, but we do not understand them.
  • B. Korf: It is a HIPAA violation to look up your own medical record.
  • B. Korf: What about an iTunes of medical records? Similar issue for medical genomics data to what was an issue before for music.
  • H. Rehm: 66% (or 81% of variants for hearing loss) of variants identified were only found in one disease case.
  • H. Rehm: Problem of individual variants being double counted. Individual patients need to be barcoded so that they are not shown multiple times in multiple studies. Possibly add a patient barcode that can be added to each study.
  • R. Scott: The gene in biology is what the atom is in chemistry.
  • R. Scott: Decreasing genetic testing cost will increase clinical and personal utility.
  • M. Kircher: It cannot all be black and white; when it comes to genomics sequence data we have to accept uncertainties.
  • G. Lyon: “Proprietary databases” are like “walled gardens” – we need to get into this pre-competitive space and share data with each other!
  • G. Lyon: Two years ago it was OK to do anecdotes – now it is better to get together for a systematic approach (sequence millions and get better variant calling methodologies).
  • G. Lyon: With exome sequencing you would only look where the light is.
The conference was kicked off by Kevin Davies (founding editor-in-chief of Bio-IT World and now VP of Business Development & Publisher at C&EN at the American Chemical Society). Kevin started out with a nice anecdotal story highlighting the 10th anniversary of the declaration of the genome showing a slide of the Leicester scientist group that printed an entire whole genome in 130 books to demonstrate just how much information is in it – the printing of which costs nowadays a lot more than actually sequencing it (currently at ~$5,000)!