In part two of our three part ‘Personalized Medicine World Conference’ interview series we talked with Dr. Michael Snyder about his thoughts on the role that next generation sequencing is playing in personalized medicine. Dr. Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University. He is a leader in the field of functional genomics and proteomics. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and currently carries out a variety of projects in the areas of genomics and proteomics both in yeast and humans. These include the large-scale analysis of proteins using protein microarrays and the global mapping of the binding sites of chromosomal proteins. His laboratory built the first proteome chip for any organism and the first high resolution tiling array for the entire human genome.
AllSeq – NGS is starting to be adopted in the clinic, with NIPT, cancer, and rare childhood diseases being the first examples. Where do you think we’ll start seeing NGS adopted next?
Dr. Snyder – I think it will continue to expand in each of these three areas. Although not exactly clinical in most instances, I think the number of healthy people who get their genomes sequenced will expand dramatically. This information can then be used for preventative medicine.
AllSeq – How far along the clinical adoption curve do you think we are?
Dr. Snyder – We’re very far in cancer and undiagnosed diseases—it is even being reimbursed. But in other areas we’re not so far.
AllSeq – What’s the biggest factor preventing NGS from more widely adopted in the clinic?
Dr. Snyder – Reimbursement. It comes down to who pays.
AllSeq – Driving down the cost of sequencing has been the biggest push so far. Is that still the case, or do you think other factors are becoming more important?
Dr. Snyder – Cost is still a big item but finally people realize that accuracy and coverage are very important too, something that has concerned us for some time. Obtaining longer reads will be an important part of accurate and comprehensive genome sequencing.
AllSeq – Do you think the use of NGS will take off in the ‘direct to consumer’ space?
Dr. Snyder – This question is complicated. Many consumers want access but when used for medical purposes it requires regulation. My belief is that all people have a right to have access to their DNA sequence and its interpretation. I think that providers of this service will need to offer some sort of counseling and cautioning, even if this is delivered online. The FDA will likely evaluate this activity.
AllSeq – You are probably the most “omically” studied living individual on the planet, but you have access to resources that few others have. What will it take to bring this technology to the masses?
Dr. Snyder – Our project is a research project and we are trying to obtain as much information as possible by making as many measurements as possible. From this we hope to extract useful information so that a more informed and focused set of assays can be applied to a larger group of people. This will be essential when some form of this is developed as a clinical test. Along the same lines we can also run a less deep analysis of what we are doing to a larger number of people.
AllSeq – Most researchers who incorporate sequencing into their research focus on one thing: DNA, RNA, ChIP, etc. But very few seem to combine multiple results together like you are doing. What’s preventing most researchers from adopting your more holistic approach?
Dr. Snyder – Even when people do multiomics analyses they tend to just compare the results of the different omes and do not integrate the information and thus take advantage of the multiple types of information. Several elements are required to perform multiomics profiling. 1) Technical expertise. Most people are trained as either molecular biologists who work only with nucleic acids or biochemists who work with proteins or metabolites. Very few have expertise in all of these different assays. As these technologies become more robust more people will implement different technologies in the same lab. 2) Informatics. It requires sophisticated expertise to be able to properly integrate multiomics information, especially for the longitudinal samples. This is probably the major stumbling block. However, the impact of combining diverse types of information is now being appreciated and other projects are beginning to emerge in this general area.
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