What’s your vision of the future of genomics medicine
I see the future of genomics medicine to lie in, eventually, health screening. This is the most proactive way to Lee Hood’s vision of P4 medicine. In responsive medicine (which is where we are today), often, patients experience frustrations of having presented internal or even external symptoms but can’t get a clear diagnosis for a long time. With the help of sequencing, physicians will be empowered by genome and transcriptome level abnormalities to better guide diagnosis. But that’s not enough. The future of medicine will aim at preventing any abnormalities from accumulating and eventually leading to symptoms. That’s why sequencing will have to go to the health screening level, and that’s when it’s realizing the true value of preventive healthcare which comes with dramatic care cost savings compared to responsive healthcare.
How would it be done? Whole genome sequencing may only need to be done once or a few times in one’s life time. Transcriptome wise, one can imagine it being used with the same frequency as the routine physicals according to age: every 2-3 years for young adults, annually for middle aged and maybe twice a year for elderly. The main aim of transcriptome sequencing is to catch early signs of abnormal growth. Whole genome sequencing will be done when physicians see the need from symptoms. One can even imagine it replacing many of the routine tests we’re getting today that, for example, measures blood protein/antigen levels as indications of diseases. The cost of such tests compared to regular sequencing will make it a no-brainer when sequencing cost is below $1000 for clinical grade genomes, and below $100 for transcriptomes. At a minimum, sequencing can help to limit those biochemical tests to only serve as confirmatory tools.
How do we get there?
Moving forward into the clinics: not exactly WGS but it’s getting there!
This is very positive. Now we have both Foundation Medicine and Ambry Genetics offering sequencing for cancer care, be it selected sets or Exomes. It’s apparent that discoveries will come mostly from whole genome sequencing, but the use of the more targeted or enriched sequencing in the clinics where costs are lower, speed is faster, and coverage can be even deeper is likely our intermediate solution towards getting the benefits of sequencing.
Can we make medicine SIMPLE, eventually?
I watched the documentary of Steve Jobs today. I have to admit that even though I have never been an Apple fan, his story made me understood the reason why there are so many of them out there.
What really provoked me into thinking was his philosophy.
The first one is, as a marketing genius, he tossed the traditional mode of product development. As developers, we were taught to get customer requirements first, and to fulfill those requirements with our product design. What Jobs did was bypassing the whole user requirement phase: I know what you want even before you know it. I’ll make a product and you’ll fall in love with it because you’ll come to the realization that this has been what you’ve always wanted but didn’t know clearly what to request.
The second one is, his belief in branding is one word: trust. People have an almost blind trust in that everything that Apple makes is good, and they would buy simply because of that. At the same time, he made sure that Apple delivers to people’s expectation in the trust, and then some.
The third one is, his design ideas are concentrated into two: elegant, and simple. Elegant design makes the product appealing, and simple user experience lowers customer transition hurdle to zero.
I can’t help but to think: can we, in the biotech/biomedical field, make medicine SIMPLE? People have a natural fear for hospitals, for medicine, for doctors, for medical devices, everything. If we want our future medicine to be “participatory” as Lee Hood visioned, can we change people’s fear for our products? Can we, one day, make medicine simple and lovable?
He/She who can solve that may just be the next Jobs.
An interview about the future of genomics medicine
Recently, I had the chance to participate in an interview with a leading consulting firm who’s conducting market research for their client. With a list of very thought provoking questions, I thought jotting down some points would be helpful for both the interview and for myself to collect and clean up my thoughts. I’ll be posting a few of those interesting ones over the next few weeks as I get more time to clean them up. It turns out that such practices are indeed useful. We Chinese have an old saying that roughly translates into “good memory always lose against clumsy hands”, highlighting the importance of jotting down your thoughts as they pop up 🙂
What’s Driving Roche’s $5.7 Billion Bid for Illumina – 01/27/2012 – The Burrill Report
What’s Driving Roche’s $5.7 Billion Bid for Illumina – 01/27/2012 – The Burrill Report.
Interesting read (or ‘hear’, since it’s an audio report). What’s your take on Roche’s move? Is it just another merger (think 454 and ion torrent), or is it a turn-point of some sort for the sequencing industry?
How far is whole genome sequencing from the clinics
A few weeks ago, I cam across a comment by an FDA official regarding the clinical utility of next generation whole genome sequencing. According to the official, current sequencing technologies need to improve its accuracy by a few orders of magnitude before they’re any useful in the clinics. Really?
I have a different opinion. The FDA’s view is well known to be, for a good reason, very conservative. For a full genome with 6G bases, with Complete Genomics’ technology, you can already achieve a precision where there’re only some ~3000 – 10000 errors. Is this good enough? It depends.
Take the post-natal diagnostic market for example. Majority of the hereditary diseases that cytogeneticists are trying to diagnose have copy number changes (gains and losses) rather than point mutations, and they’re big events: >10kb in almost all cases. For traditional methods (let’s not go back to “ancient” times where karyotyping is used) say SNP arrays, this presents a challenge, but not so much for sequencing. In fact, whole genome sequencing is already being evaluated in the post-natal space. Knowingly, in a space where the reimbursement level is only ~$1500, next-gen sequencing at the current price point is not viable. Therefore, here what’s preventing NGS to enter the clinical labs is the cost, not the current precision level.
The cancer market? It’s kind of a mixed bag at the moment. NGS, even at the current precision level, provides a whole slew of useful information that can help with diagnosis, prognosis and therapeutic decisions, but it also presents challenges. Aside from the cost (which is more tolerated in cancer), the vastly unknown nature of cancer and the boat load of information that NGS generates do not lead to an easy solution. There’s also a general lack of pharmacogenomics links with mutations vs drugs to use. Admittedly, we have a long way to go there.
Here the focus has been on whole genome NGS. If we move to targeted sequencing, there are far more applications one can use it for (not necessarily market size wise: cancer is still the single biggest one out there!), and many are indeed being commercialized (check out companies like Sequenom, Aria Dx and Verinata etc.).
Genomic tools: fueling molecular diagnostics 