Topol on 'Taboo Genetics,' a Frugal App, and Magic Supplements

| Disclosures | October 10, 2013

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,[1] 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.[2]

In related genomic news, 23andMe now has over 400,000 registrants who have undergone genome scans,[3] and a Nature feature review, "Taboo Genetics,"[4] 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.[7] Another WSJ article describes arobot/computer that administers sedation and is challenging the role of anesthesiologists for certain cases.[8] 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?"[9]

Coverage of the use of smartphone accessories for medical applications continued with one article on eye refraction[10] and another that reviewed the many emerging uses of "Dr. Siri."[11] 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?[12]

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.[13]

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,[14] and a commentary I published on why it is time to consider encouraging medical students to have their whole genomes sequenced.[15]

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.

Best regards,

Eric J. Topol, MD

Editor-in-Chief, Medscape

Latest in Family Medicine/Primary Care


  1. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 2. [Epub ahead of print]

  2. Zhan X, Larson DE, Wang C, et al. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet. 2013 Sept 15. [Epub ahead of print]

  3. Brady D. 23andMe wants to take its DNA tests mass-market. Bloomberg Businessweek. September 30, 2013. Accessed October 7, 2013.

  4. Hayden EC. Taboo genetics. Nature. 2013;502:26-28.!/menu/main/topColumns/topLeftColumn/pdf/502026a.pdf Accessed October 7, 2013.

  5. Naik G. 'Designer babies:' patented process could lead to selection of genes for specific traits. U.S. News. October 3, 2013. Accessed October 7, 2013.

  6. Sterckx S, Cockbain J, Howard HC, Borry P. "I prefer a child with ...": designer babies, another controversial patent in the arena of direct-to-consumer genomics. Genetics Med. 2013 Oct 13. [Epub ahead of print] Accessed October 7, 2013.

  7. Daniel Fletcher: Why your iPhone upgrade is good for the poor. [Opinion] Wall Street Journal. September 20, 2013. Accessed October 7, 2013.

  8. Robots vs. anesthesiologists. J&J's new sedation machine promises cheaper colonoscopies; doctors fight back. Wall Street Journal. September 25, 2013. October 7, 2013.

  9. Hempel J. IBM's massive bet on Watson. Fortune. September 19, 2013. Accessed October 7, 2013.

  10. Regalado A. When smartphones do a doctor's job. MIT Technology Review. September 13, 2013. Accessed October 7, 2013.

  11. Gray R. Paging Dr Siri: how your iPhone can diagnose disease. Telegraph. Accessed October 7, 2013.

  12. Lewis T. Study shows iPhones can be transformed into mobile endoscopic viewing system with cost benefit. iMedicalApps. October 3, 2013. Accessed October 7, 2013.

  13. Elizabeth Holmes: the breakthrough of instant diagnosis. [Opinion] Wall Street Journal. September 8, 2013. Accessed October 7, 2013.

  14. Jonathan David: medical education needs major surgery. [Opinion] Wall Street Journal. September 26, 2013. Accessed October 7, 2013.

  15. Topol EJ. From dissecting cadavers to dissecting genomes. Sci Transl Med. 2013;5:202ed15.

Authors and Disclosures


Eric J. Topol, MD

Director, Scripps Translational Science Institute; Chief Academic Officer, Scripps Health; Professor of Genomics, The Scripps Research Institute, La Jolla, California; Editor-in-Chief, Medscape

Disclosure: Eric J. Topol, MD, has disclosed the following relevant financial relationships:
Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: AltheaDX; Biological Dynamics; Cypher Genomics (Co-founder); Dexcom; Genapsys; Gilead Sciences, Inc.; Portola Pharmaceuticals; Quest Diagnostics; Sotera Wireless; Volcano
Received research grant from: National Institutes of Health; Qualcomm Foundation

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