Dear Medscape Members:
The past month has been especially dense with newsworthy items and real indicators of how the current practice of medicine is being challenged.
First, let's review some of the major genomic medicine reports, starting with the Baylor group sequencing trial, which included whole exome sequencing of 250 consecutive patients (mostly kids with a neurologic condition). The sequencing made the correct molecular diagnosis in 25% of the patients. Of note, for the insurance claims that were submitted, 97% were reimbursed, which demonstrates a new willingness of health insurers to defray the cost of sequencing and could be considered a sentinel event for the burgeoning use of sequencing in medicine.
Sequencing is also uncovering important rare variants that are linked to disease. The journal Nature Genetics covered this topic in an article on rare variants that are implicated with up to a 23-fold risk for age-related macular degeneration.
In related genomic news, 23andMe now has over 400,000 registrants who have undergone genome scans, and a Nature feature review, "Taboo Genetics," took on the ethical issue of genomics being used to increase intelligence or for designer babies. The issue was also tied to a new patent granted to 23andMe.[5,6]
Next, there were several very interesting reports on the digital medicine front.
For example, if you were wondering what happens to the smartphone you trade in for the latest version, the Wall Street Journal reports that some are getting recycled to the developing world to morph into microscopes and lab-on-a-chip devices. Another WSJ article describes arobot/computer that administers sedation and is challenging the role of anesthesiologists for certain cases. Similarly, a feature article in Fortune on the Watson supercomputer not only revealed that it is the top-priority project for IBM, but it also offered an interesting quote for its application in medicine: "Today the ASK WATSON button provides a second opinion for oncologists. But as it grows more reliable, might it replace some of them entirely?"
Coverage of the use of smartphone accessories for medical applications continued with one article on eye refraction and another that reviewed the many emerging uses of "Dr. Siri." An endoscopy device attached to a smartphone, the Endockscope + iPhone, appears to be especially frugal ($154 compared with $46,623 for a standard HD endoscopy device); is it too good to be true?
And while we're on the topic of replacing how things have been done traditionally, a new company called Theranos, specializing in instant diagnoses, has been launched by Elizabeth Holmes. The company will be working with Walgreens pharmacies to perform approximately 1000 lab tests with a microliter of blood at a markedly reduced cost compared with central laboratories. I will be interviewing Elizabeth for an upcoming Medscape One-on-One. This initiative has the look of the creative destruction of laboratory medicine.
Regarding interviews, if you have not heard of Paul Offit's new book, Do You Believe in Magic?, he and I discussed it at length in a Medscape One-on-One interview, drilling down on alternative medicine, vitamins, supplements, and celebrities promoting healthcare. I hope you'll find it educational, as I certainly learned a lot on this topic from Paul's book.
And finally, on education, there are 2 articles to mention: an op-ed in the Wall Street Journal calling for major surgery for medical school curricula, and a commentary I published on why it is time to consider encouraging medical students to have their whole genomes sequenced.
I hope you find this rundown of interesting articles and topics to be useful. I've posted all of the above, and a lot more, via my Twitter handle @EricTopol. If you haven't joined Twitter yet, you should; it's a really terrific way to keep up with medicine.
Eric J. Topol, MD