Wednesday, January 6, 2010
It turns out there is this theory that what we use often isn't the best or the most elegant, but it works. Sometimes this turns out to be a rube goldberg machine that we just can't shake. Much like healthcare and insurance billing........
Sometimes we see the errors in our way quickly and adjust course. Sometimes we don't. It all depends on who is putting money into things and what the priorities of the society are at the time.
Think about all the archaic things we still use and do. I think about these every day as I see patients and interact with a system that has been doing some of the same things since the dark ages........
Seriously. But that will change with blogs and social networks that allow us to cut most things to pieces very quickly. Engineers are very good at this rapid changes, priests not so much, somewhere in between lie most people.
Stephen Friend has decided to put one of these critiques out there. His 5 things that will be gone in 10 years.....
"Single nucleotide polymorphisms (SNP) analysis isn’t going to last long as a major driver of biologic insight. Within the next one to two years, people will wake up to “ITEGS”—”It’s the entire genome, stupid.” Technologies are poised to allow analysis of variations in thousands to even hundreds of thousands of people. Do not be surprised when all the people with a disease such as Huntington’s are analyzed for DNA alterations across their entire genome. Groups such as Cure Huntington’s Disease Initiative are already preparing for this world." Courtesy XConomy
I freaking love it! ITEGS or better yet ITGS! I wholeheartedly agree that this is the platform which will work when combined with technologies to assess methylation status RNA function and expression and combined with.........
Phenotypic data such as a physical exam, vital signs and PEDIGREE!!!! Which is why in the end, even the most complex interpretation machine will have a problem without someone to give these other data points. Will it be the clinician or machine which hears the heart murmur? We already know machines outperform in this realm.
But I agree, the boondoggle known as DTC Genomics and research based on SNP scans is a novelty, but there will be better options for discovery.
Why would you pump money down the DTC rabbit hole, unless you are in love with their "logic gates" for processing the genotypic data. Which IMHO should actually all be open source to assure the best and most timeliness. Why let this genome interpretation software be a one trick pony, we know open source works well, why mess with it?
2. Proteomics as the end solution.
I think this line puts it best
"The next wave of insights will be in the hands of those that can build network models of what went wrong in the disease states."
Uh, paging Dr Lee Hood? Can you hear me Lee?
3. Biomarker signatures as commercially viable robust markers akin to cholesterol or estrogen receptor positivity for breast cancer.
Ah yes, there's a biomarker for that! I have seen this with PSA, CA125, 9p21.3, I could go on and on. The data and patient population required to really, really get something out of this is in the order of hundreds of thousands of participants. Not even a tiny Island nation going into default could save this model!
4. Indications for drugs determined by Pharma trials......
Yes, I agree. The real next step is to determine WHO should get the drug, not WHAT should get the drug......Pharmacogenomics is going to be a real game changer over the next decade. MARK MY WORDS.
But his 5th I disagree with.
He states the large hunter gatherer approach such as Framingham will not exist. I think he is dead wrong here. There is no doubt in my mind, nation states will yearn to harness genetic technology and cures for diseases in a whole new light and fashion.
Genomics will be one of the new arms races once terrorism and hunger and pestilence and civil unrest and malaria and TB and poverty and crime are eliminated. It will start when we can use the genome to profile for medications and only go further...........This hunter gatherer approach is the best way to do such trials and only governments have the capital to perform them.
The Sherpa Says: The decade is upon us. With birth pangs we will see new technologies destroy the old in Genomics and Personalized Medicine.
Posted by Steve Murphy MD at 5:15 AM