Three Big Themes from the Personalized Medicine Conference

12/5/12Follow @sheffi

Hello from Boston, and from the 2012 Partners Personalized Medicine Conference, which last week brought together life science thought leaders from business, research and technology. Several themes that emerged from this year’s program:

Genomes, genomes, genomes. Previous personalized medicine conferences had tended to focus on commercialization of and reimbursement for traditional molecular diagnostics. This year, clinical genome sequencing was a pervasive theme, including one panel that featured Stanford University’s Michael Snyder, who had conducted a fascinating longitudinal study of his own genome, transcriptome, metabolome, and other parameters. Snyder said he expects to be interpreting and re-interpreting his genome for the rest of his life. John Lauerman, a reporter for Bloomberg News, had his genome sequenced this year as part of the Personal Genome Project at Harvard Medical School. The sequence revealed he has a variant called JAK2-V617F, which was suggestive of a variety of blood disorders. Lauerman confessed that he had learned much more than he had expected, but still found the experience ultimately rewarding.

Joe Vockley, COO & CSO of the Inova Translational Medicine Institute, boasted of his institution having sequenced 1,500 genomes, with 25,000 more on the way in the next two years. Both panel and audience concurred that whole genome sequencing is coming to the clinic very quickly, and will be part of routine care for cancer, newborn screening, and Mendelian disease diagnosis within a few years. Trevor Hawkins, Chief Strategy Officer of Siemens Health, went so far as to declare that next generation sequencing would eventually become the sole platform for molecular diagnostics.

Genetics in Drug Development. One impressive panel featured leaders from Pfizer, Vertex Pharmaceuticals, GlaxoSmithKline, and Regeneron Pharmaceuticals. The group discussed the impact that genetic data is making in drug development. Jeff Leiden, the new CEO of Vertex, hailed the combination of genetics and cell biology as having greatly accelerated the discovery (and approval) of Vertex’s ivacaftor (Kalydeco), which targets the 3-4 percent of cystic fibrosis patients with the G551D mutation. George Yancopoulos, the president and chief scientist at Regeneron, explained how the discovery of an LDL-lowering mutation in a small number of patients turned out to have clinical relevance for a large majority, and eventually led to drug candidate REGN727, which showed excellent Phase II data earlier this year. Both Leiden and Yancopoulos emphasized the opportunity to get quicker and less-risky approvals for smaller populations and then expand to subsequent indications.

Need for new ways to manage large amounts of genomic data. A recurring theme throughout the conference was the need for new IT solutions to handle the massive crush of genomic data, which is structured in a fundamentally different way from other big data applications. Joe Beery of Life Technologies stressed the need for better IT to help physicians apply what is known in the clinic and achieve true breakthroughs in personalized medicine. Kris Joshi of Oracle stressed the opportunity and trend toward data-driven clinical decision-making, but also touched on the regulatory challenges of moving genomic applications from the research to the clinic, such as Title 21 CFR Part 11, which governs the use of electronic records in clinical care. The ability to reproduce and repeat analyses exactly will be key to any clinical implementation of personalized medicine. Vockley, from Inova, discussed efforts at his institution to build clinical decision support into their genomic medicine practice.

Ultimately, the conference itself proved to be a demonstration of a turning point in personalized medicine, with greater acceptance of gene-based diagnostics paving the way for widespread use of genomics in translational research and clinical care.

Jonathan Sheffi is cofounder of Curoverse. Follow @sheffi

By posting a comment, you agree to our terms and conditions.

  • Jerry Jeff

    in order for WGS to be the sole diagnostic tool it will need to be >99.99% accurate. Which of the WGS platforms will provide that?