Bioinformatics Pioneer, Martin Reese, on Scaling Up Human Genome Interpretation


Guest: Martin Reese, Co-founder, President & CSO, Omicia

Bio and Contact Info

Chapters: (Advance the marker)

0:40 How did you get started in bioinformatics?

3:04 What is the biggest challenge with human genome interpretation?

8:01 Diagnosing Ogden Syndrome

13:30 What sets Omicia apart?

18:08 Who is ordering your tests?

23:29 FDA letter to 23andMe unfortunate

25:47 What's your main objective for 2014?

Martin Reese's career in bioinformatics began in 1993 when he attended a lecture in Heidelberg, Germany entitled "Genome Informatics." Reese, a German, then switched his studies from medical informatics to bioinformatics and moved to Berkeley where he worked on assembling the genome for the Human Genome Project. In 1996, he started a company with his Ph D advisor, David Haussler (of Genome Browser fame), called Neomorphic, part of the first commercialization of bioinformatics.

Martin is now the president of Omicia, a company he founded to take on the challenge of scaling up human genome interpretation.

How far have we come in the clinical interpretation space? Martin says that in 2013, 80% of human genome interpretation was done for research and 20% for the clinic. In the next 3-5 years, he predicts those percentages will switch to 20% for research and 80% clinical.

Martin says that one of the biggest challenges for human genome interpretation is easy-to-use visualization tools. For this reason, he's been a fan of the DTC company, 23andMe, and felt that the FDA's letter to the company was "very unfortunate."

"[23andMe] educated the whole population about genetics," he says in the interview, "and they tried to make the reports easily understandable and manageable by a regular person. . . . The easier we make the reports, the better doctors can understand them."

Just who is ordering reports from Omicia, and what is the company's objective in the year ahead? Join us for an insider's take on clinical genomics.

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