Observations from The Clinical Genome Conference

I am interested in the progress of “personalized medicine,” so I participated in TCGC — The Clinical Genome Conference in San Francisco this week.     It is a small conference, mostly academics and scientists.  The biology and statistics were over my head,  nonetheless, I’m glad I went.

The core question is — is NGS (next generation sequencing or whole genome sequencing) ready to be used (and how) in clinical medicine?     We all hear about the $1000 genome is around the corner (that is your whole genome sequenced for ~$1000) — but having this test done, will it enable a physician to a) better diagnose what is wrong with the patient and b) will it enable the physician to better treat the patient?

My quick observations are:

  • I was surprised by the number of teams working on various elements of the problem around the world.    Prior to the conference I was familiar with several efforts, but there must be literally hundreds of teams working on tools, pipelines, proprietary data sets etc.    Clearly many see the science and market opportunities and they are pursuing them.
  • Many of the presenters talked about the same problems — lack of clear interfaces across the pipeline, lack of a complete or gold reference standard, need different tools for different parts of the genome/exome, still lots of manual curation required etc.   Then there were some new problems raised like patient consent, patient/physician reporting and education, clarity around things like sensitivity and specificity of the results and recommendation.    Many of these issues were raised in the CLARITY challenge I posted about earlier.
  • Lots of teams/companies are going after building an end-to-end pipeline of tools, dbs and knowledge.    Most of the existing tools are open source, as are many of the knowledge sources.    Given the immaturity of the industry — perhaps a vertically integrated solution is the right business approach.   There seems to be a some  “build it and they will come” thinking around business models.
  • Few talked about what I think a central problem re: faster adoption of NGS in clinical medicine is — namely the lack of new, targeted, identified or approved treatment options.    The “test” potentially improves the physician’s ability to diagnose the problem or understand the root cause of the disease — but for many conditions there are no treatment options.    The science is learning faster around the diagnosis side of the equation, which is good — but the lag time around finding, building and approving treatments may be the rate limiter for growth of the sector.
  • There are some interesting ideas around sharing knowledge and “crowdsourcing” solutions to the tough problems that should accelerate growth and adoption.     I found this one intriguing www.bioplanet.com/gcat — trying to build truth sets.

The sector is super exciting for its potential and filled with really smart, interesting and passionate people.     I will continue to monitor and stay involved.

Medicare to approach 6% of GDP by 2040 — contrary to media reports, reform more urgent than ever

Medicare is projected to become nearly 6% of GDP by 2040 and less than 1/3 of that is financed by existing sources of income (payroll taxes and premiums) — the rest is going to come from deficits and transfers from general tax revenues.     This good news was recently released this month by the Medicare Trustees and is based on some rosy assumptions — namely the SGR actually happens (25% cut in doctor fees) — which has been postponed by Congress for the last 10 years.   For those of you who want to be educated about the finances of this critical entitlement and why/how it is driving our Federal and State budgets into further deficits, I encourage you to read this quick analysis by one of the public trustees.

My take is we need to reform Medicare — how it is financed and how it operates — if we hope to have any chance of getting government spending under control.    Yes, we need to provide health coverage to our citizens.    But it makes no sense to do so in a way that clearly does not work and is unsustainable.     As I have written in the past — we need to focus on ‘value’ in our health delivery system (better outcomes for less inputs) and not just access (insurance coverage and benefits).    IMHO, this means the consumer/citizen needs to be more accountable and have more choices.      The political dialog needs to start with citizens having a better understanding of our programs and what they cost.     You are not going to get that from the mainstream media — I hope you all read the analysis.