Tag: personalized medicine

Thoughts from PMWC 2016

~ neupert ~ 4 Comments

I went to the Personalized Medicine World conference to learn more about how genomics (and other ‘omics) are advancing drug discovery, molecular diagnostics, current cancer treatment paradigms and creating new sectors like ‘scientific wellness.’   My general observations are:

  • The scope and pace of advancement is accelerating:   it is no longer curiosity driven research – searching to see what one might find.  People are figuring out how to leverage the tools/data into insights that enable better, more precise lab tests or smarter and faster drug development.   To borrow a phrase from John Doerr during the Internet boom – if anything the space is being under-hyped.
  • Roadblocks to adoption and commercial success remain:  the ability of existing institutions to adapt, change and incorporate new techniques, tools and solutions is much slower than the pace of innovation.   One of the biggest issues (as always in health) is the rigidity in the reimbursement system.   Another is the ability of the health delivery system (physicians) to learn when and how to use new options to improve patient outcomes.    Some, like HLI and Arivale, are simply bypassing the existing institutions and going direct to consumer.   Policy is another arena that is having trouble keeping up with the pace of innovation.
  • Large number of new companies going after opportunities: I was surprised at the number of new companies in almost every sector – new lab tests, new genomics tools, software platforms and companies/consortia going after drug development.   This field feels more global with key participants from international groups than in the early stages of the commercialization of the Internet, even though the conference was held in Silicon Valley (fittingly at the Museum of Computer History).    There is also a big focus on collaboration across companies, govt., academia in many of the cool projects – whether it be establishing of open standards, or large scale projects.
  • Obama’s Precision Medicine Initiative: I was surprised at how much play this got at the conference.   The money is relatively small (<$250M) out of a >$30B NIH budget – but it has managed to capture the imagination of many players and other countries.    One thing the government can do effectively is set the agenda and drive attention/focus on key priorities and the PMI is effective at doing this.    Kathy Hudson at NIH also noted – it (and Obama’s ongoing interest) is an effective tool for dealing quickly with otherwise intransigent inter-agency problems.
  • Quality of People: during my work career, I have been blessed with the opportunity to work with some of the amazing business people of my generation.    The people that are going after this field – the intersection of science, medicine, and technology – are truly talented, energetic, high quality problem solvers and forward thinking.    I was impressed and excited to see this, because it means the future is going to happen faster than many think.

The next two decades are going to be a continuing explosion of innovation, because there is so much for us to learn about how the body and the mind work and to how we can appropriately intervene to improve wellness and to mitigate disease progression.    Back in the early 1980’s when I started in the personal computer industry – no one predicted or visualized what a huge transformation was beginning.   I believe the transformation going on now in biology, health, medicine – will dwarf that one more than we can fathom today.

Observations from The Clinical Genome Conference

~ neupert ~ Leave a comment

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.