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Genomic Medicine, Finally
Daniel Dvorkin writes "When I first started studying bioinformatics almost fifteen years ago (!) what drew me to the field was the promise that we might soon be able to provide effective, personalized treatments for a wide variety of diseases. There have been some successes along the way, like genetic tests for warfarin dosage, but for the most part our gains in understanding of basic biology haven't been matched by clinical advances. Now it looks like that is at long last about to change, and it's about time.
Too many people suffer and die from too many diseases that we more or less understand, but can't effectively treat. I hated it when I worked in hands-on patient care, and I hate it now in the lab. We are, finally, getting there."
Too many people suffer and die from too many diseases that we more or less understand, but can't effectively treat. I hated it when I worked in hands-on patient care, and I hate it now in the lab. We are, finally, getting there."
Might as well have just done:
Title: GABBO
Summary: GABBO is coming!
Article: Who is GABBO? No one knows, but he's coming soon!
Healthy long lives are a result of the combination of active lifestyles, good diet and the ability to remove sickness with the least amount of permanent damage. You can eat a genetically pure diet with perfect amounts of nutrients and still end up getting skin cancer. Medicine should not be your first stop to trying to be healthy but at the same time, It's necessary.
It's pretty interesting that one of the endorsements over at the website for the "forksoverknives" whole foods regime documentary was this:
'"A film that can save your life." - Roger Ebert, Chicago Sun-Times '
oops...
You are welcome on my lawn.
It is my understanding, that FDA's current stance is that all such person-specific treatments/medicines must be individually approved... And, because the approval process is so horrendously difficult and expensive, few would be willing (nay, able) to do it. Companies do it for mass-market drugs, but for individually-tailored mixtures — where the expected market is numbered in mere scores or, at best, hundreds of people — it just makes no sense...
In Soviet Washington the swamp drains you.
move over "X is the year for linux on the desktop"...we have a new contender.
2014 is the year for medicine on the genome.
never bring a twinkie to a food fight.
How many diseases have cheap preventable causes? Many
How many cheap preventable causes are the medical "science" industry interested in finding? Zero
What is the likelihood that insurance companies will want to use genetics to exclude benefits? Very high
How long time will it take for new research to enter into medical practice? As long time as it will take for the practitioner to retire.
Genetics: Too much knowledge in the wrong hands is a bad thing.
People need to maintain the distinction in their head from gene finding (which still goes on and is one of the subjects of TFA) and clinical care. The impact of genomic medicine on clinical care is still limited and is likely to remain so for the forseeable future because of what genomic medicine is currently good at predicting.
There will be some benefits in selection of oncology protocols in the short term, but knowing cancer genomics does not actually lead to new chemotherapeutic agents except in the long term (even if a drug target is discovered today, if there is no currently approved drug on the market it could take 10-30 years to develop a drug targeting a new class of mutation).
For most other adult disease, the application will be limited to relatively rare outliers like the limb-girdle disease highlighted in the article. Genomic medicine isn't going to change the fact that huge swaths of patients need to take statins, for example. In fact, the 'success' submitter posits (Warfarin) is actually a bust. The actual benefits from pharmacogenetic testing for Warfarin metabolism are swamped by all the other factors which affect Warfarin metabolism (eg diet and other meds). As for Alzheimer's which TFA also mentions, they're still at the stage of recruiting their 40k subjects to sequence at $1000 a pop. The analysis will take thousands of man-hours just to generate some new hypotheses about Alzheimer's which will, in turn, take 10-30 years to lead to new therapeutics (if we're lucky).
The one area where whole exome sequencing and related technologies are likely to change care in a meaningful way is pediatrics and fetal medicine where there are tons of rare, fatal things due to rare point mutations. In these cases, early molecular diagnosis would reduce the diagnostic odyssey and allow early discussion of the goals of care.
http://www.technologyreview.com/review/524451/genome-surgery/
The actual benefits from pharmacogenetic testing for Warfarin metabolism are swamped by all the other factors which affect Warfarin metabolism (eg diet and other meds).
The FDA disagrees, and so does the evidence. And there are a whole lot of areas where pharmacogenetics is starting to have an impact on treatment. In any case, pharmacogenetics is a subset of pharmacogenomics; for example, as I mentioned in another comment, the lab where I work is working on expression-based tests for prediction of altitude sickness and setting up drug trials.
The correlation between ignorance of statistics and using "correlation is not causation" as an argument is close to 1.
Gene therapy is performed through vectors, notably viral vectors.
For example, Wafarin/Coumadin is likely unneeded with good diet: http://www.diseaseproof.com/ar...
The article cited dosing for Wafarin/Coumadin as a motivation for genetic research -- ironically ignoring it is not needed at all with better nutrition (in probably almost every case, so talk to an informed medical practicioner etc..). The link above is from something Dr. Joel Fuhrman wrote in 2004 (just to show how people searching for a magic bullet ignore the obvious). From there: ...
"Coumadin, Vitamin K, and a Plant-Based Diet
Eat more healthfully and stop taking Coumadin. The main problem with the studies that show that patients at risk of stroke benefit from anticoagulation with Coumadin is that they tested mostly high-risk patients on the typical disease-creating American diet, not low-risk patients on a vegetable-heavy, plant-based diet. As one's diet changes to include more vegetation and less and less animal products and refined foods, one's cholesterol drops, one's blood pressure typically decreases, and one's risk of a heart attack or embolic stroke plummets.
A high-nutrient, plant-based diet already has been demonstrated in medical studies to have a powerful effect at decreasing the risk of embolic stroke as well as heart attacks. In fact, in the Nurses Health Study a mere 5 servings per day of fruits and vegetables reduced risk of embolic stroke by 30 percent (and this is still a poor diet by my standards). 2 Another study looking at the consumption of greens, vegetables, and daily fruit consumption found a dramatic decrease in stroke incidence (approaching 50 percent) when they compared high and low fruit and vegetable consumption.3 My dietary recommendations, extremely low in salt and offering the equivalent of more than 10 servings per day of stroke-protecting produce, have been demonstrated to dramatically lower cholesterol and offer a much greater resistance to both strokes and heart attacks than Coumadin therapy. For people following my nutritional advice, the use of Coumadin becomes ill-advised. The use of this dietary intervention quickly drops people from a high-risk to a low-risk status. In most cases, Coumadin is no longer needed.
Most people on Coumadin would be much safer if they ate an ideal diet with lots of vitamin K containing greens; took an aspirin, EPA/DHA fatty acids, and LDL protect daily; and stopped taking the Coumadin. The risk of all causes of death would decrease precipitously. Eating right will not cause you to bleed to death. Instead, it can save your life.
Natural anticoagulants to consider instead of Coumadin are tomato juice, pomegranate juice, fish oil, vitamin E, horse chestnut seed extract, and ginkgo biloba.
Is Coumadin the Only Hope?
For those who absolutely must take Coumadin, because of a recent thrombotic event, the danger of not eating a healthful diet exceeds the risk of increasing the Coumadin dose slightly to accommodate the healthier diet. As long as the amount of greens you eat is consistent, your doctor can adjust your Coumadin dose to accommodate it.
For the patient who must stay on Coumadin, the diet must be consistent from day to day to avoid fluctuations in the effectiveness of the drug. To keep the vitamin K amount constant, it is sensible to eat one large raw salad a day and one serving of dark green vegetables such as asparagus and string beans, but leave out the dark green leafy vegetables, such as steamed kale, collards, and spinach. Adding some of those to a soup is okay, however. The goal is to keep your vitamin K level stable, so the amount of blood thinning does not swing into a danger zone. A dangerous level of blood thinning can occur if the dose of Coumadin is adjusted to a high vitamin K intake and then suddenly the patient does not eat many vitamin K-containing foods for a few days. In other wo
A 21st century issue: the irony of technologies of abundance in the hands of those still thinking in terms of scarcity.
There have been some successes along the way, like genetic tests for warfarin dosage, but for the most part our gains in understanding of basic biology haven't been matched by clinical advances.
If you're spending thousands of dollars for genetic testing for a $4 a month drug like warfarin, you're doing it way wrong. It's like the proverbial million dollar cure for the common cold. You could either use one of the newer warfarin alternatives with more consistent pharmacokinetic profiles at a higher price or use the old tried-and-true trial and error dosing.
Either way, you're still doing weekly to monthly lab testing for warfarin dosing. And your warfarin effectiveness (or bleeding risk) is still going to be thrown way off if you vary your diet significantly or start new medications.
A much better example of genomic medicine payoff would be targeting therapies to specific cancer types, like the EGFR receptor mutations in some varieties of lung cancer.
Light a fire for a man and he'll be warm for a day. Light a man on fire and he'll be warm for the rest of his life.