More than 1000 people from 26 countries gathered on Jan 27th and Jan 28th at the Computer History Museum for the 7th Personalized Medicine World Conference in Mountain View, CA. For the most part, the conference had 4 parallel tracks going on at any time; with track 1 consisting of research/data focused talks and panel discussions, track 2 consisting of presentations from well established companies, track 3 organized for new companies to pitch to investors and the newly added track 4 designed for patient education and advocacy groups. The details of the program can be found here. The conference has been covered in two posts: post 1 includes the talks from Day 1 and is mainly focused on research talks and panel discussions; post 2 includes sessions focused on drug development, policy as well as talks from other tracks.
PMWC Part 1:
The conference started with honoring Yuet Wai Khan from UCSF with the Pioneer award for his work on recombinant DNA and cloning for disease diagnosis and treatment.
Jay Flatley, President and CEO, Illumina, received the Luminary award and made the remark that the long awaited $1000 genome is finally here. Jay talked about the power of new Illumina sequencers (HiSeq X Ten, launched recently at JP Morgan) and how in 2004 Illumina was performing 1536 SNP’s sequencing and can now sequence more than one genome in a day. He shared his vision of a system where researchers will have access to raw data and clinicians to meta-data, to provide better disease treatment and diagnosis. He also strongly emphasized the importance of sharing data especially in the research community and commented that one of the biggest problems is to convince data generators to share data. Talking about applications and diagnostics, he mentioned the major areas will be to identify germ line mutations or changes, theranostics and to develop systems for molecular monitoring.
Amir Dan Rubin from Stanford Hospital shared his vision of creating a leading edge system and delivering better care at Stanford. Such a system will be aimed at placing the patients’ needs front and center, which could be achieved in a four-fold manner: 1) Knowing them, 2) Showing them the treatment path, 3) Coordinating treatment plans for them, and 4) Applying leading edge technologies to get them the best results. He showed how Stanford Hospital is implementing advanced technologies like natural language processing (analyzing the patient’s voice to assess disease status) to improve the system and provide better care.
The first panel discussion titled “Ten Years into Personalized Medicine: What We’ve Learned & What’s Next” comprised of companies with genomics based diagnostics products and included Kim Popovits from Genomic Health, Randy Scott from Invitae, Brook Byers from KPCB and Jay Flatley.
Although in their early years (~2000), all panelists (and their investors) believed that the biggest customer will be Pharma; this proved not to be true as Pharma did not know what to do with the (sequencing) data or how to deal with it with the FDA and how to answer questions about it. On the topic of unexpected obstacles, the major problem that they identified lay not in building a technology but instead in getting payers, FDA approvals and reimbursements. The practice in Maryland to reimburse better outcomes (Pay for performance) and not just perform tests (pay for service) is great start for the medical system (e.g. doing all the genomics test together that may likely be relevant in providing a better treatment).
Eric Green from NIH gave a talk titled “A Research Agenda for Genomic Medicine”. Since 2000, as we have collected more data, we have advanced from understanding the genome à understanding the biology of genome à understanding the biology of disease à advancing science à now to improving and providing effective healthcare. With beautiful slides of the double helix shaped bulb filament, his talk was focused on six major areas of application of genomic medicine: a) Cancer, especially building applications that can combine radio imaging and circos plots together, b) Pharmacogenomics c) Genomics test driven programs such as the CS exploratory program which is focused on implementing genomics into clinical practice and measuring its effects using programs like IGNITE d) Prenatal and newborn analyses e) Clinical genomics information systems which constitute having the appropriate tools and systems to analyze data and provide answers to question for treatment and f) Ultra rare genetic diagnosis.
George Sledge from Stanford University gave a talk titled “Targeted Therapy in era of genetic medicine”. He explained that in order to apply targeted medicine, there are four important aspects to consider: 1) having a well-defined target 2) having a strong correlation with the understood biology 3) having a clinically measurable component in some way and most importantly, 4) having a measurable clinical response. In summary, he emphasized on two statements, 1) We get cancers and not cancer 2) For treatment we don’t need “magic bullets”, we need a “magic shotgun”.
The pre-lunch session continued with an exciting panel discussion that centered on personalized medicine in oncology with speakers Marty Tenenbaum (Cancer Commons), George Demetri (Dana Farber), Vincent A. Miller (Foundation medicine), Neil Schiffmann (Lung cancer survivor) and Edgar Straren (CTCA). Discussing about the major challenges in clinical trials today, panelists agreed on absence of “match.com” for clinical trials and the need for change in the statistical analysis especially those based on current genomic approaches. Setting a good example and stressing the importance of patient involvement, Edgar stated that at CTCA, they never start a board meeting without a patient, something all companies should pursue. Neil called for a change in belief among the patients that” If I am on Clinical Trial, my game must be over”, be more about there and have the “patient advocacy” gene turned on. Another point that was put across repeatedly is that we don’t get cancer we get cancers, our studies, analysis, treatment and clinical trials need to incorporate that in practice.
Under the section of pre-neonatal advances, Ken Song, CEO of Ariosa Diagnostics, explained how non-invasive prenatal testing has reduced the number of invasive procedures like amnio and chorionic villi sampling. He focused his talk on two questions. 1) Who is this test for? and 2) Should we test for more conditions?. Answering the first question, he commented that though primarily used for high risk patients (based on age and other metrics at pregnancy), this test should be available to all women, since in terms of number, most pregnancies lost or harmed in the low risk group are due to invasive procedures. Surprisingly, he suggested on testing for T21 only, commenting that the relevance (due to low frequency in population) of testing decreases and the rate of false positive increases.
The last session of Day 1 was focused on designing clinical practices around personalized medicine. Andrew Kasarskis from Icahn Institute Mount Sinai explained the efforts to personalize cancer therapy by doing undergo multi-omics analysis, using cell lines to understand drug responses and patient scoring system called PACT to apply it to the entire population. Euan Ashley from Stanford University threw light on the practice of personalized medicine, using the case of John West (Personalis) and Steve Quake as discussed in the paper published in the Lancet in 2010.
In Part 2 Nikhil will cover day 2 of the conference.