Longevity science

ZocDoc, Healthgrades, Vitals, Yelp and other sites can tell you what patients think of their doctors. But finding out in any aggregate way what doctors think of their peers has been much harder, if not near impossible, for patients — up until now. By accessing information in government databases through FOIA (Freedom of Information Act) requests, healthcare innovators are now able to share connections between doctors that are based on millions of physician referrals — a valuable indicator of who doctors hold in esteem.

 

Last month, Fred Trotter, a self-identified “hacktivist,” revealed that he had obtained a dataset of Medicare physician referrals through a FOIA request and was making the initial data available to those who supported a Medstartr crowdfunding campaign meant to build out his “DocGraph” and make it freely available. This week, he announced that he not only blew past his $15,000 funding goal, but was launching a second campaign to integrate his current data with an additional dataset.

 

The new tool, which reflects 25 million doctor referral connections, enables patients to see how many doctors are linked to a particular doctor, as well as their locations. As patients search for new physicians and specialists, being able to see who their current doctors are linked with could help them decide who to visit. It also gives doctors an opportunity to build online networks that reflect their offline networks, Gutman said. In a post about his “DocGraph” project, Trotter said that his data wasn’t strictly a “referral” data set because, in some cases, doctors might be linked through a patient they both happened to see at the same time, not through an active referral. But Gutman emphasized that HealthTap’s DOConnect considered more than Medicare referrals in mapping connections between doctors.

Via Olivier Delannoy, Chanfimao, Dr. Stefan Gruenwald

A faster DNA sequencing machine and streamlined analysis of the results can diagnose genetic disorders in days rather than weeks. 

 

Up to a third of the babies admitted to neonatal intensive care units have a genetic disease. Although symptoms may be severe, the genetic cause can be hard to pin down. Thousands of genetic diseases have been described, but relatively few tests are available, and even these may detect only the most common mutations.

 

Whole-genome sequencing could test for many diseases at once, but its cost, the complexity of the results and the turnaround time are prohibitive. In what they hope will be a prototype for other hospitals, a research team led by Stephen Kingsmore at Children’s Mercy Hospital in Kansas City, Missouri, has implemented a much faster, simpler system for finding relevant mutations in whole-genome sequences that is designed for physicians without specialized genetic training.

 

These kinds of innovation will help more hospitals bring sequencing into clinical care, says Richard Gibbs, director of the human genome sequencing centre at Baylor College of Medicine in Houston, Texas. “A lot of people are going to realize from this that the future is now.”

 

Sequencing has been used before to pinpoint the cause of mysterious diseases. In 2011, Gibbs led a team that sequenced 14-year-old twins with a neurological movement disorder and found a way to improve their treatment2. In another instance, whole-genome sequencing suggested that a mysterious case of severe inflammatory bowel disease had a genetic cause and could be relieved through a bone marrow transplant3. But both these examples required several weeks and a team of experts to resolve. The Children’s Mercy Hospital plans to offer routine sequencing in the neonatal intensive care unit by the end of the year.

 

To order a test, physicians will choose terms from pull-down boxes to describe the infant's symptoms. Software then compiles a list of potential suspect genes. After the genome is sequenced, the software hunts for and analyses mutations in only those genes, which allows it to compile a list of possible causative mutations more quickly. The team had early access to a new DNA sequencing machine from sequencing company Illumina, based in San DIego, California, that could generate a whole genome within 25 hours. The entire process, from obtaining consent to preliminary diagnosis, took 50 hours, not counting the time taken to ship DNA samples and computer hard drives between Illumina's lab in the UK, where the DNA sequencing was carried out, and the hospital, where analysis was conducted. Kingsmore estimates that the cost of sequence and analysis is $13,500 per child, including costs to verify variants in a laboratory certified to perform clinical tests.

 

Fast sequencing cannot diagnose all genetic diseases. Current sequencing technology tend to overlook mutations such as duplicated genes, for example. Nonetheless, deep sequencing will be able to provide diagnoses for many cases that would otherwise remain harrowing mysteries.

Via Dr. Stefan Gruenwald

From simple charts to complex maps and infographics, Brian Suda's round-up of the best – and mostly free – tools has everything you need to bring your data to life. A common question is how to get started with data visualisations. Beyond following blogs, you need to practice – and to practice, you need to understand the tools available. In this article, get introduced to 20 different tools for creating visualisations.

Via Lauren Moss, Baiba Svenca, Goulu