“Translating the knowledge we are gaining from gene discoveries into practical clinical and public health applications will be critical for realizing the potential of personalized health care and improving the health of the nation.”
Muin J. Khoury, M.D., Ph.D., Director, Office of Public Health Genomics, Centers for Disease Control & Prevention
There are several interesting and exciting developments in personalized health that extend well beyond clinical medicine and into areas of science, ethics, government policy and regulation, patient advocacy, and business. In January of this year, the Ewing Marion Kauffman Foundation published The Personalized Health Project—Identifying the gaps between discovery and application in the life sciences, and proposed solutions. This report provides insights from key thought leaders as to how far we have come, where there are gaps and barriers, and how far away we are from reaching the goal of implementing personalized health care solutions.
It is incredible to think that we are already 20 years into the Human Genome Project and so much has been gained in terms of huge data repositories of genomic knowledge. More and more we see genetic tests being utilized to prevent, predict, diagnose and treat. Some of these tests used in clinical medicine are becoming incorporated into clinical guidelines and standard of care. Additionally the cost of genome sequencing has decreased tremendously in the past 10 years, eclipsing Moore’s Law, which is typically an accurate way to conduct long-term planning for technological innovation.
While progress has occurred, there still exists a need to understand, refine, translate and validate the knowledge gained in the last 20 years and to apply it to personalized health. For example, understanding the complexity of the information generated from a genetic test is a key component to consider integrating into personal health. How realistic is it to assume a physician will be able to interpret genetic tests? For physicians and patients, and in the case of direct-to-consumer tests, it will be imperative to communicate clear results to the end-user. (See Point/Counterpoint: On FDA Regulation of DTC Genetic Tests.)
With the daily deluge of information written on the topic of personalized health, one source of information that I find to be particularly useful is on the CDC Genomics and Health Impact Update whereby the CDC provides weekly updates on genomics and public health along with important and useful links.
Industry conferences are another source of current information. Popper and Co. will attend the 3rd Annual Personalized Medicine Partnerships Conference from April 11-12 in Washington, DC. It will be interesting to hear firsthand how different businesses have developed successful models for bringing to fruition their strategic approaches to personalized health.
Where do you see gaps in the translation of genomic data into useful personalized health strategies? Are there “go-to” sources for information on personalized health topics and trends that you’d like to share? Please respond below. We look forward to learning more.
Tags: genomics, human genome project, life sciences, moore's law, personal genomics, personalized health, personalized health care, personalized health project
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Now that the Molecular Med Tri-Con 2011 has ended and attendees are back at their offices, labs, practices, and/or hospitals – or perhaps have landed at their next business meeting or conference destination – it’s a good time to reflect on some of my general observations from the event.
The conference covered so much information that it would be impossible to review every topic. Following are a few areas that captured my attention and remain in my thoughts:
- STEM CELLS – There was a lot of focus on induced pluripotent stem cells (iPSC), in particular how to better characterize and understand those cells. Pluripotent stem cells can differentiate, or change, to become any one of the many types of cells that make up an organism. These cells are already being used for applications such as drug testing and drug screening. Once they are induced to re-differentiate, iPSC can provide good models for disease: what some conference speakers referred to as a “disease in a dish.” Some discussion among presenters focused on the idea of isolating cells from patients, producing iPSC, and then reintroducing the produced cells into the patient to replace cells that have been damaged or lost as a result of disease – an elegant form of cell-based therapy. Although widespread use of this approach is likely a ways off, I’m both optimistic of the therapeutic potential and somewhat cautious because of regulatory hurdles and potential safety issues (including some data showing tumor production in animals).
- CIRCULATING TUMOR CELLS (CTC) – This field of study is moving very, very rapidly. There’s immense scientific and medical interest in the clinical utility of these cells – as diagnostic biomarkers or as prognostic markers of disease recurrence. Also, as we’ve written before, there’s an emerging trend not just to count, but also to characterize CTC (which could increase their diagnostic utility, according to many conference presenters). Further characterization will provide information that will enable physicians to guide the treatment of patients in an increasingly personalized way, which is a very attractive idea. Also on CTCs: Discussion occurred on the need to isolate and characterize more types of cells (beyond those from epithelial tumors; “epithelial” = outside layer of cells that covers open surfaces, including skin) and to broaden the definition of CTC to include other types of rare, circulating cells.
- DNA SEQUENCING – One of my favorite topics, DNA sequencing, was a focus area at the conference. Jonathan M. Rothberg, Ph.D., Founder, Chairman & CEO of Ion Torrent (recently acquired by Life Technologies) described the most recent version of his company’s sequencing instrument. He shared an anecdote of how their instrument was used to sequence the genome of Gordon E. Moore, founder of Intel, who developed Moore’s Law (which states that the number of transistors on a chip will double about every two years). Rothberg explained that he and his company have been inspired by Moore’s Law and by Moore himself, noting that the Ion Torrent sequencer is based on semiconductor technology that uses electrons rather than light as the readout – so the sequencing of Moore’s genome takes science in a full circle. As for the next step in DNA sequencing, the big issue appears not to lie in generating the sequence data itself, but rather in the analysis and interpretation of the data. We have now realized the $10,000 genome (and the $1,000 genome is very close), but there was a lot of talk about the need to interpret all of that data, and much tongue-in-cheek reference to the “$1M analysis,” which reflects widespread concern about the magnitude of the challenge associated with making full use of the data.
- INFORMATICS: As a result of sequencing and other data-delivering trends, there’s now a great deal of effort underway to manage extremely large volumes of data and information. One trend discussed at the conference is the application of cloud-based computing to provide horsepower to analyze these complex data sets, to query large databases, and more. Virtual computing clusters may allow for widespread analysis by researchers who might not otherwise have sufficient computing infrastructure at their fingertips.
I could go on and on here, but I think you get the idea. Technology is advancing so rapidly that the landscape looks a lot different than it did even six or eight months ago. As a result, people are thinking of applications in health care differently, which is a great thing.
We would love to hear your thoughts on both the potential for and challenges of new technologies to affect the delivery of health care. Please use the comments link below.
Tags: circulating tumor cells (CTC), DNA sequencing, gordon e. moore, informatics, intel, ion torrent, life technologies, molecular med tri-con 2011, moore's law, personal genomics, stem cells
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