Submitted by
Users who Dugg This
Traveling Mom
285 Followers
Traveling Mom
285 Followers
Jesica Parker
3806 Followers
Jesica Parker
3806 Followers
Ivan Diggomaniak
922 Followers
Ivan Diggomaniak
922 Followers
hazmatsuitAug 8, 2010
o rly?
nova437Aug 8, 2010
Xplain. Nice.
cs188Aug 8, 2010
"Good news everyone!"
phillyocAug 8, 2010
I think I have about 92 of those.
mikbunnAug 8, 2010
Even if you have a genetic predisposition to heart disease, you're exacerbating it by eating too much s**tty food.
I know McDonald's is quick and easy (and occasionally delicious,) but a salad and nice vinaigrette or a turkey sandwich takes like one minute to prepare.Comment is buried, click here to see the rest.
jjamminjonAug 9, 2010
This account has been closed by the user
7king7kingAug 8, 2010
how many are there in total?
Closed AccountAug 9, 2010
It says that they identified 95, and they explain about a quarter of the inherited variations, so perhaps around 400. Though I'm not sure if there is a direct correlation.
jabbrwockeyAug 8, 2010
With the national implementation of EMR in hospitals underway, why shouldn't the U.S. do mandatory genetic sequencing at birth?
Just keep the database away from the executive branch and things will be peachy.
ubernickAug 9, 2010
Part of my job is implementing and integrating these large EMR systems for hospital and physician groups. The ARRA is giving large cash incentives to get everyone on these by 2014 so that records are standardized and transferable. It's an evolutionary part of the philosophy set forth by HIPAA during the Clinton years. Part of the thought behind these is that it will keep evolving to become larger, more integrated, and required as a regulatory standard (right now it's just an incentive). It's a huge benefit in terms of efficiency and error-mitigating our health care system, but it's going to take decades to realize fully. Even now, there's some fear of executive branch tightening controls and forcing reporting of our data (in a non-identifiable way). The FDA already does this to a large extent on drug studies, and has a lot of rules to protect privacy and identifiable information. But there still are tons of concerns over the autonomy and privacy of our health care (nothing close to the right-wing scare stories), but I definitely see it trending to the direction of full data collection and full government insight into our health.
uselesstriviaAug 9, 2010
The EMR part is great. The "standardized and transferable" part is where we all still have a lot of work to do. You work with these so you know how big a joke these standards are.
Good luck getting your medical record created with Product A to transfer into a system using Product B.
toxicshokAug 9, 2010
Because data about a patient is confidential to that patient and it would require a signature to release. Furthermore it would require the parents signature to collect said test data from baby.
Unless laws are modified it would be difficult.
ubernickAug 9, 2010
@UselessTrivia
No kidding! The ARRA "Final Ruling" was just released to give all the detailed specs on some data points hospitals need to collect. It's an 800 page blog-style rant chronicling intended goals of each captured point. We have a group of internal people who have to read, interpret, and debate the "correct" implementation. The best we can do at this point is pull all the data in from their respective systems and store them in a combined format in the DWH's system-- then run reports and sync from there. You'd be shocked over how hard it is to figure out what counts as, for instance, a baby "delivery". Are twins one or two deliveries? Do still births count? As far as I know, all the systems do it differently, and we have to reverse-engineer the algorithm to figure out how they do it, then translate it accordingly. The number never matches up to what the nurses collect. It'll take decades to get all that s**t sorted out, but hey, it's a start :-)
ubernickAug 9, 2010
One bright point, I think, is to see the progress in pharma, where more is at stake, so more regulation has been in place longer. Although they're not directly analogous to the EMR issue, CDISC and CDASH standards for study data structure and collection seems to bringing things together pretty well.
ubernickAug 9, 2010
@toxicshok "data about a patient is confidential"
Somewhat true. If you're in a large physician network (which individual practices sort of have to be in now), once your data is collected, it's "available" to everyone in the group. Automated systems are allowed to combine the individual patient data at physician level and export that. Depending on the industry and state, there's some rules in place that prevent things like people in small zip codes (<50K people) and folks over 90 years old (because there are so few of them) from being rolled up. But a lot of this compliance is really trust-based and voluntary behind the scenes. Your data can (and does) get released by sloppy or rouge employees.
anonymousmedicAug 9, 2010
Because, aside from the known and identified genetic alterations that cause birth defects and metabolic syndromes (I.E. Trisonomy 17, Trisonomy 21, PKU, et all), while we know the genetic code, and we know many of the functions of it, we still do not have practical application of gene therapy and manipulation to alter genetic risk factors. Sure, we may have a gentic assay which says there's a mutation of Allele x on the 18th chromasome, but how are we going to apply that to treating the patient? In addition, it's not JUST the genetics - diet, environment, physical activity, comorbid conditions and medical treatment all have an effect on the body.
The more we know about genetics, the more we realize we have to learn. It's not like playing with Legos here.
Until we know everything there is to know about our genetic structure, how each gene interacts with each other to produce variation, and how one change affects the rest - the information is useless except for a purely scientific study. And we're still decades away from even 10% of that information.
offrdbanditAug 8, 2010
How long before we start getting tax penalties for genetic vulnerabilities like these, I wonder...
suspectedAug 9, 2010
Unnecessarily alarmist...
metis2Aug 9, 2010
Dr. Stephen Devries, a preventive cardiologist at Northwestern Memorial Hospital who was not involved in the research, said the findings "provide the building blocks that will allow other investigators to test ideas about whether different treatments based on a person's genetic makeup may work better."
Yea, I'll wait for further testing.
anonymousmedicAug 9, 2010
Yeah. I think I'll just wait on that "Personalized Medicine" thing.
hereticoftruthAug 9, 2010
But in the end the conclusion is the same. You're gonna die if you don't take all the pills Pharmer John prescribes for you.
bytemeaholeAug 9, 2010
Buried as BS. They have no idea what causes heart disease - next week they will be publishing that all of these links are good for you.