Genomics and Medicine

The Electronic Medical Mess

I posted a quick tweet this morning about the state of data in health care. Over the years, I’ve worked with at least half a dozen projects where earnest, intelligent, diligent folks have tried to unlock the potential stored in mid to large scale batches…

Letting the genome out of the bottle

About eleven years ago, in January of 2008, the New England Journal of Medicine published a perspective piece on direct to consumer genetic tests, “Letting the Genome out of the Bottle, Will We Get Our Wish.” The article begins by describing an “overweight” patient who…

Data driven health decisions

I just had a personal experience with how timely, personal measurements can drive better health and lifestyle decisions. Unfortunately, it wasn’t related to any of the times that I’ve been genotyped, nor was it in the context of care by any physician. In fact, I…

DeepVariant

Earlier this week, Google published DeepVariant, a machine learning (ML) based tool for genomics. The software is now available on the DNANexus platform. This is kind of a big deal, and also kind of not a big deal. Does it matter? It’s a big deal…

Bioinformatics vs Computational Biology

In the past, I used the terms “bioinformatics” and “computational biology” somewhat interchangeably. I don’t do that anymore. Bioinformatics is about reusable tools and information resources for biology. Computational Biology is about biological insight. It’s not necessarily a distinction between two different types of person.…

Genetics, Genomics, and the GI Doctor

Genome Fanboy I’m a personalized medicine and genomics nerd and fanboy. Have been for years. Back in 2008, I did 23andme. I immediately downloaded my raw data and began to tinker (as one does). I poked and prodded at the text files they provided –…

The ever gathering storm

It’s summertime – season of thunderstorms. Most days are punctuated with ominous clouds and distant thunder. Actual rain, however, is rare. The forecast is consistent – temperatures may spike up to uncomfortably hot in the afternoon, and there are low odds of a thunderstorm. I…

Rand Paul on slavery

Found this gem via Matt Taibbi: “With an absolutely straight face, Rand Paul compares public health care to slavery. He says that if everyone has a right to health care, that means that people can come to his office – Rand is a doctor, after…

Medicine, part 2, in which I admit my error

I rely you people to correct me when I screw up – and I made something of a howler in that last post. Fortunately, Krugman’s actual column today caught it. I claimed that the current debate is about how best to reduce the size of…

Medicine

I got some good traction from a recent blog post by Krugman about the dangers of treating medical care as a commodity, sold by doctors to consumer/ patients. The thoughts this inspired just don’t seem to fit in Facebook’s ever shrinking comment window. Here’s the…