from the finding-needles-in-paper-haystacks dept.
Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.
And now researchers at Vanderbilt University Medical Center have found a way to search genetic data in electronic health records to identify these diseases in large populations so treatments can be tailored to the actual cause of the illness.
The implications for the findings reported today in the journal Science are broad and numerous -- 14 percent of patients with genetic variants affecting the kidney had kidney transplants and 10 percent with another variant required liver transplants.
If their genetic cause had been diagnosed, those transplants might have been avoided.
"We started with a simple idea: look for a cluster of symptoms and diseases to find an undiagnosed underlying disease," said Josh Denny, MD, MS, professor of Biomedical Informatics and Medicine and director of the Center for Precision Medicine.
"Then we got really excited when we saw how we could systematize it across thousands of genetic diseases to figure out the impact of millions of genetic variants," he said.
The new method, developed by Denny, Lisa Bastarache, MS, and a team of collaborators, creates a phenotype risk score to find patterns of symptoms that may be caused by an underlying genetic variant -- including some genetic variants whose effects were previously unknown.
[...] As genetic testing becomes more common, there is a growing need to understand the impact of genetic variants. Only a fraction of the rare genetic variants found in human beings are well understood. This study shows that looking at outcomes in electronic health records can be helpful in deciding if a variant might be disease-associated.
"Phenotype risk scoring can easily be applied in any electronic medical record system that is linked to DNA," Bastarache said. "Our work looked at only a small sample of the human genome, about 6,000 variants. The opportunity for additional discoveries using this method is huge."
(Score: -1, Troll) by Anonymous Coward on Friday March 23 2018, @02:24AM
A certain man was walking around in a shopping district with his girl. They went from shop to shop, looking at the products behind the glass. At first glance, they seemed to be an ordinary couple on a date; however, something was off about the girl. She was spoiled.
Yes, the girl was spoiled. If one were to observe her closely, they would see that the way she carried herself was indicative of having been spoiled by the man. Clearly, the girl received whatever she wanted and her every need was tended to. There were several things that showed this to be the case.
First, the woman's face was bruised everywhere and many of her teeth were broken; this showed that the man cared enough to train her. Second, the woman was skin and bones; this proved that the man paid enough of his precious attention to her to starve her. Finally, the woman was extremely timid and fearful, indicating that the man's training was thorough indeed. These facts, along with several others, proved that the woman was treated like a princess.
When the woman started coughing up blood after the man had punched her for flinching in a way that displeased him, the other men watching this scene collectively rolled their eyes at the spoiled-rotten girl. When will he realize that rewarding her like this will only encourage further unwanted behavior? Everyone witnessing the event thought that. When will he realize...
(Score: 0) by Anonymous Coward on Friday March 23 2018, @03:07AM (1 child)
Wait until this kind of thing gets built in into health insurance systems like FACETS. When Trizetto gets everyone using FACETS in the cloud, it'll happen, despite HIPPA. (yes, I've worked with FACETS). There will be companies that get to crawl over the whole cloud of FACETS data looking for this kind of stuff (Amazon health insurance?).
Having mentioned HIPAA, I had a bike accident regarding a car, so it went through the "PIP" part of my car policy. Well, not everyone in that stream of health records data flow is bound by HIPAA, as car insurance companies are not classified as health care providers...
And you thought the state of auto-denial of claims or preauthorizations sucks today... or pre-existing conditions. Imagine getting profiled for a genetic condition you (or your doctor) were not aware you had, and the insurance company used this to determine you had a pre-existing genetic condition and thusly denied your claim or pre-authorization because of some imagined "statutes of limitations" for things like this.
(Score: 0) by Anonymous Coward on Friday March 23 2018, @03:11PM
Health insurance industry is digging its own grave with that peeking into cards: either you need them but they don't want you, or they do want you and from that you realize you are low risk and don't really need them, so they don't get any money.
Insurance business is in its essence a gambling business. The need for an insurance exists as much as there is uncertainty. If uncertainty is banished, it is end time for insurance.
And once no patients which need expensive procedures are insured, it is end time for high medicine, too. Small number of people belonging to both sets of "Has hard medical condition" and "Has a lot of money" won't be able to keep expensive medical research alive.
Eugenicists will be happy, but insurers and doctors - not so much.
(Score: 0) by Anonymous Coward on Friday March 23 2018, @04:33AM (1 child)
This is why I deal with doctors as a cash-paying, nameless, homeless bum.
Can't follow the data trail if there isn't a trail.
(Score: 0) by Anonymous Coward on Saturday March 24 2018, @10:21PM
If the doctor prescribes something, are you able to pick that up anonymously?
(Score: 3, Insightful) by ilPapa on Friday March 23 2018, @04:41AM (3 children)
Look, everybody's gotta die of something. I do not want my genetic information going anywhere by my personal family records and maybe the Maury Show.
The thing about these "rare genetic disorders" is...they're fucking rare, OK? You probably don't have one. Go put a few hundred dollar chips on 17 Black and spin the wheel. Win or lose, you're still not getting out of this world alive.
Whatever benefit there would be to you will be far outweighed by the benefit to some corporation that means you no damn good, so just get your annual checkup. If your doctor thinks you need a genetic test, let her order it for you.
You are still welcome on my lawn.
(Score: 2) by takyon on Friday March 23 2018, @05:44AM
ilPapa... you are NOT the father.
It would be nice to have nanobots that worked on everything with little or no need for personalized genomic medicine (or even a diagnosis). Maybe some of us can live another 30 or 40 years to see that realized.
[SIG] 10/28/2017: Soylent Upgrade v14 [soylentnews.org]
(Score: 2) by takyon on Friday March 23 2018, @08:18AM (1 child)
https://www.statnews.com/2018/03/22/genome-sequencing-health-care-costs/ [statnews.com]
[SIG] 10/28/2017: Soylent Upgrade v14 [soylentnews.org]
(Score: 2) by ilPapa on Friday March 23 2018, @06:53PM
I have a feeling that once the health care/insurance industry gets hold if it, genetic testing for disease is going to cost a bundle. I'm sure it'll work great for people in Canada and European socialist countries, but in the US, you can bet the poors won't have access for a good long while.
You are still welcome on my lawn.
(Score: 0) by Anonymous Coward on Friday March 23 2018, @06:11AM
Since everyone is piling on the hate train I just feel like I should hop on. This reeks of "let us surveil everything you do and even your health records cause we might find something scaaary! Kinda like the turrists that will git me on da plane if they don't violate my personal space.
I must say I feel safer already with Skynet watching over me.