Fresh hope: The Language of Life: DNA and the Revolution in Personalized Medicine, by Francis Collins.
Harper Collins Publishers
Francis Collins's book offers optimism but no grand plan.
In the final pages of his new book about personalized medicine, Francis Collins offers a compelling vision of the future via a fictional character named Hope, born on January 1, 2000. Collins describes a world where Hope and most other people have had the entirety of their DNA sequenced and integrated with predictive models that make suggestions about diet, lifestyle, and treatments to optimize their health. The result for Hope is a healthy and productive life beyond age 100.
Collins then depicts an alternative world for Hope that looks similar to our own, where a dysfunctional health-care system hasn't yet integrated personalized medicine. In this dystopia, doctors haven't been trained in genomics, and payers won't fund predictive and preventive tests and protocols. Hope, who has a genetic predisposition for heart attack, drops dead while gardening at age 50.
Despite the corny name "Hope," these pages are the best part of Language of Life: DNA and the Revolution in Personalized Medicine--along with quick summaries of the promise of stem cell therapies and gene therapies, also included in the final chapter: "A Vision of the Future."
For me, the rest of the book was less insightful than I had hoped. Collins--a chief architect of the Human Genome Project and now director of the National Institutes of Health--offers a thorough description of current-day genomics. With an easygoing style he describes how genetics is beginning to infiltrate clinical medicine, most significantly for rare diseases caused by extreme glitches in a person's DNA, such as Tay-Sachs, Down syndrome, and the like.
He writes chapters on how genetics is providing clues for people about whether or not they will experience side effects if they take a drug, and how genetic differences among people are shedding light on common diseases such as diabetes.
This is a useful update on dozens of other books and popular articles about genomics written over the last several years. However, with the exception of those final pages, it neglects to explain why the revolution in personalized medicine presented in "option one" of Hope's possible futures is taking so long. This leads me to three complaints that I have with Collins's book.
The first is that The Language of Life shares the tendency of most popular books and media to be overly gung ho about a genomic revolution that for years has been long on promise and short on reality. This lack of success has not come from want of trying. As Collins notes, scientists have made great advances in understanding genomics and molecular biology, while companies have worked hard to translate the wealth of information being generated about our DNA into tests and treatments that will be useful to patients.
Pharmaceutical companies are using molecular biology to design more targeted drugs, and the likes of 23andme and Navigenics are selling genetic testing services online, directly to consumers.
Collins mentions that developing so-called "rational" drugs (based on knowledge of molecular interactions instead of trial and error) has been challenging, and that proffering DNA tests online for diabetes, heart disease, and schizophrenia has been controversial. But he barely mentions that the U.S. Food and Drug Administration has approved only a handful of drugs in the personalized medicine space, or that direct-to-consumer testing has failed to attract many customers.
The latter situation became clear last fall when 23andme cofounder Anne Wojcicki announced at the TED MED meeting in San Diego that her company had sequenced the DNA of only 30,000 people in two years--despite overwhelming publicity that included being named Time magazine's 2008 Invention of the Year.
This tepid public response might be explained by the still-high cost for genetic testing--which is getting less expensive--or by the fact that these tests have yet to be fully validated as accurate predictors of risk factors for disease. It also may have to do with a public that has yet to see or understand the relevance of DNA testing beyond rare genetic disorders and CSI-style forensics.
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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).
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.
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.
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"
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
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