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From Hope to Reality in Personalized Medicine

Continued from page 1

By David Ewing Duncan

Friday, February 05, 2010

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I was hoping that Collins would offer a more frank assessment of where we stand on the road to a true age of personalized medicine--what's worked and what hasn't.

Which leads to my second issue with The Language of Life--that Collins does not draw on his experience and provide us with a plan for closing the wide gap between our genomic-challenged world and Hope's hoped-for future.

Collins does outline the bare bones of an agenda for pushing society forward into a true age of personalized health. He calls for an increase in funding for research (not surprising coming from the director of the NIH); better use of electronic medical records to collect data that can be used to develop predictive models for disease; improvements in policy to facilitate a more rapid progression from research to applications for patients; an emphasis on education, especially for physicians and other medical caregivers; and finally, a more robust bioethical discussion about potentially controversial innovations.

I understand the need to keep explaining genomics until the public gets it. And Collins uses his folksiness and charm to great effect as he patiently explains one more time what exactly a nucleotide is, and how having an A rather than a G might predispose one to a high risk for colon cancer. At some point, however, the discussion needs to shift to a realistic blueprint for action. Only then will the public get the lesson--when genetics ceases to be an abstraction and becomes relevant to their lives.

The third gripe I have with the book is its overwhelming emphasis on genomics as being the language of life. I'm surprised by this, given that Collins has championed several programs at the NIH that are trying to integrate genomics with other key components that make a person who they are, and that have powerful impacts on disease, behavior, and other traits.

Chief among these nongenomic influences on human life is a person's environment--everything from diet to UV rays and chemical toxins such as mercury and pesticides. Each of us is born with a genetic blueprint, but this is meaningless for most common diseases without understanding the interaction of the environment and our personal genetic proclivities for either sensitivity to or protection from assaults from the world we live in.

Collins mentions the role of the environment and other crucial factors that affect our health, including proteomics and the trillions of microbes in our bodies, but only in passing.

In 2006, Collins wrote The Language of God: A Scientist Presents Evidence for Belief, which had the same accessible style as Life. A devout Christian, Collins analyzed and dismissed the arguments of those who deny evolution and who oppose on religious grounds embryonic stem-cell research. Collins said that for him, God and biology are compatible--and that God's handiwork can be seen in the workings of every cell, nucleotide, and stem cell that scientists work with in their labs.

Collins engaged a wide audience with that first book as it settled onto the New York Times bestseller list for several weeks. In part, this was because of the topic--the eternal tussle to reconcile faith and science. But Collins's book also resonated because he clearly articulated a path forward for people who were struggling with what seemed to be a contradiction between faith and science.

I'm hoping Collins writes a Language of Life II that takes a similar tack: moving beyond explanation and enthusiasm to also articulate a clear path forward, so that the hope for personalized medicine he describes in those final pages can become a reality.

Comments

  • Diabetes

    A diabetic diet guide on how to manage different type of diabetes http://DiabetesMeal.info
    Rate this comment: 12345

    mackwill52...
    02/05/2010
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  • It starts with eduction . . .
    One of the big issues that could lead to the fizzling out of this “revolution” is that there are more and more companies selling tests directly to a relatively uninformed consumer.  I believe one of the biggest unmet needs in this market is the need to help consumers get reliable information about available testing options, get access to available genetic counseling services, and to compare the various providers and their offerings.   Sadly, there are so few qualified genetic professionals (MD Geneticists or Genetic Counselors) out there that even the doctors and insurance companies are having a hard time pointing consumers to the rights tests or services for a particular consumer.  After my own experience with genetic testing and the lack of information out there, I actually started the company to provide a comprehensive resource on genetic information, services, and support.  We have also evaluated all the online providers.  This is important because we help consumers utilize their family history (one of the most important things to consider when thinking about testing).  For example, some provider's tests do not cover Late-Onset Alzheimer's, while others do. As a result, someone with a family of history of this disease may find one provider's test more appropriate or informative than one of the other providers. It is also important to let consumers know who offers pre- and post-test counseling; who involves a physician in the ordering process; who uses only CLIA certified labs; and who has adequate security, encryption, and privacy policies (which is particularly important these days in light of the DeCODEme bankruptcy and all the questions about ownership of data).   All this can be found by going to http://www.AccessDNA.com.  In addition, our analysis on all the whole genome scanning companies can be found on this page http://www.accessdna.com/condition/Whole_Genome_Scanning/322/tests).
    Rate this comment: 12345

    LeeEssner
    02/05/2010
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  • I agree it isn't just DNA
    Having just come off a stint at a long term care hospital, I was constantly wondering at the variety of people in there for different reasons, and what could be done about them.  Unlike an acute care hospital, while some get better and leave with therapies of various kinds, the majority are there long term meaning the medical system hasn't succeeded for them.

    And while it appears that a move to socialized medicines to some degree in the US is likely to happen, I worry that this will stop much of the practical innovation of not just medicines but therapies, machines for treatment and diagnosis, in a world where the Dr prescribes what is the state pronounced 'best treatment'.  At least here you can pay more for add'l stuff insurance doesn't cover.

    Criticizing current policies aside, I think the best way to look at it is at the individual level still, if you looked closely at each case, why are they incapacitated, could anything be done currently or in the future if we had more advanced overall health detail on cellular level for the whole body or incredibly detailed scans of problems (e.g. star trek's 'micro cellular scans') in organs or blood vessels.  highly detailed models of human bodies at various stages to automatically compare against, and modes of treatment for some cases to restore to norms of health for their average biological ages.

    examples - one patient quadriplegic but due to exercise regularly, toned body, the cure would be a small step (but not possible yet) of regrowing nerves in probably a small section.  Many other were in there with more complex and combinations of problems.

    Others with stroke, copd or a wide range of other problems, some with no simple answer.  Some tho were simple but not treated due to lack of resources, items as simple as preventing contractures with ROM therapy or plastic devices.  Could an entrepreneur come up with machines to automatically exercise body parts while detecting progress and preventing harm?

    This is just one example, and while resources are limited what we can do is whatever we can think up, so is limitless.  A seeming contradiction but we'll have to pick what we do, and many other high tech fields from biochemical treatments to sophisticated giz-gadgets in the form of diagnostic or treatments could be the basis for incredibly personalized treatments.

    This extending the personal treatment plan by the health care team to an incredibly detailed level with computers and high tech gadgets will allow many of those whose biological clock has not run out to get back to normal functioning much of the time, and eventually other advances might even include extending our biological clock.

    But the idea is to up the practical care & treatment plan with what could be done ideally, and to look at opportunities to see the problems and research answers even if it won't help that patient, might help the next.
    Rate this comment: 12345

    erbium
    02/07/2010
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  • From Hope to Reality in Personalized Medicin
    4d rna will be a key breakthrough. its raw crunch vs the power of the next gen sequencers to give us real time "genetics" . what turns it on, what turns it off and when. then why.
    Rate this comment: 12345

    daviest
    02/09/2010
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  • The significance of Francis Collins' book
    I totally understand that David E. Duncan is left hungry having read "The Language of Life". I would daresay that everybody is left hungry including Francis Collins...

    Yet, the book has an enormous significance. It is an enthusiastic endorsement, a "green light" towards Personalized Preventive Participatory Medicine, based on genomic and health data - by an M.D./Ph.D. who happens to be the Director of NIH, commanding a $40 Bn budget this year (with top praise on the back panel from Barack Obama, who happens to be the President of the US, struggling with health care reform that for lack of sufficient funds will not get anywhere without a massive and institutionalized component of Prevention). Moreover, the "folksy" style of Francis, who did not write, but lectured the book that got diligently transcribed and illustrated for the public, is bound to provide the momentum by the masses of easy readers, that progress in this field just could not do without.

    I particularly agree with David's critical remarks in two aspects. First, the book is jam-packed with "use cases" and covers almost any subject of this field - but leaves the readers totally clueless of what "The Language of Life" might be. The title was almost for sure picked to rhyme with Francis' earlier book, where e.g. mathematics was called by him (as well as by so many others...) a "divine language".

    I don't blame Francis (rather, I congratulate him) that he did not even engage in belaboring for the masses that "The Language of Life" might be based on The Principle of Fractal Iterative Recursion through the HoloGenome since he would have instantly lost about 99% of his readers. Some might easily see that Genome just would not do without the Epigenomic pathways, thus agree to "HoloGenomics", but Francis made a conscious choice during his Ph.D. studies including quantum theory and thermodynamics that he would stay away from the very "unfolksy" mathematical equations, and most likely never will make the mistake of teaching fractal geometry to medical doctors - the most he could and IMHO should do is to create a Program in NIH for Genome Informatics. Further, in my opinion, a "Manhattan Project" of the massive and inevitable task of understanding genome regulation in the native language of Nature (fractal geometry) belongs much closer to a would be Program at NSF, especially with now a new Director.

    The other aspect that I resonate fully with Dave' s critical remark is that Francis' book leaves everybody hungry for practical, automated solutions how to practice his teaching that we all should go for Personal Preventive Participatory wellness programs.

    In defense of Francis my answer is that it is no longer the mandate of the government how to empower the consumer with Personal Genome Computers, synced with Personal Genome Assistants, to go shopping by your genome, with your health- and genomic data interoperable with your personal preferences.

    The task is up to Private Domain business, that is anchored in top-notch science; see YouTube "Shop for your life - HolGenTech at PMWC2010"
    Rate this comment: 12345

    Pellionisz
    02/10/2010
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  • Personalized Medicine without the wait
    It seems things are moving along quickly, personal DNA test with fast results, so perhaps Collins' hope isn't so far off after all? Relatively fast, anyway, certainly a big improvement, but not fast enough for those with the attention span of a flea.
    Spartan Bioscience Announces First Point-of-Care DNA Testing System for Personalized Medicine

    Rate this comment: 12345

    newsblaze
    08/10/2010
    Posts:1

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