Genomic Revolution, Part II

More thoughts on the genomic revolution, who’s involved, what we’re facing and where we’re going.

  • U.S. population: 300+ M
  • Board-certified physicans: 697,000
  • In primary care: About 2 out 5
  • M.D. geneticists: 1,178
  • Ph.D. geneticists: ~800
  • Genetic counselors: ~2,000

That’s about 3.5 geneticists per million population. In addition, MD clinical genetics training programs have had declining numbers of trainees, which means fewer geneticists in future years. The typical clinical geneticist works at an academic medical center, spends approximately 50% of her time in direct patient care, and provides approximately 700 total patient visits per year. 700 patients per 1200 MD geneticists = 840,000 patient per year. That’s today’s bottleneck.

Now, let’s look at the nature of the molecular diagnostics market: in 2005 it was a $6 billion market, of which genetic and pharmacogenetic testing was less than 1/3. In 2010, it’s estimated to be $15 billion, over half of which will be genetic and pharmacogenetic. In 2013, it’s estimated to be $32 billion. That’s big growth.

Where is this growth taking place? IVDMIAs (OncotypeDX, MammaPrint), which complicated tumor-typing tests with algorhithms that require interpretation by specialists (oncologists). Pharmacogenetic tests, which again require expertise to both interpret the test and determine clinical utility (Mayo is pioneering the incorporation of PGx testing into psychiatric practice) There are growing numbers of genome-wide arrays and fast-paced research in adult complex diseases.

Most medical genetics professionals agree that we face a challenge: how do we educate patient and professional populations and develop supportive tools and services, to bring the value of this new science accurately and responsibly to the patient, to improve healthcare. I think most would agree that genetic diagnostics will (and are) moving away from the “genetics” arena to be integrated into their specialty practice. A challenge here is how to rapidly integrate genetics information into the specialty in time with the evolving science.

Who else is talking about how we handle this rapidly emerging, complex information? The government (FDA, Congress via CLIA). Academics and watchdog organizations (Genetics & Public Policy Center). Professional organizations (ACMG, NSGC, ASCO). The Personalized Medicine Coalition. And people like us.

Sources: AMA, NSGC, Kalorama Information “The U.S. Market for Molecular Diagnostics, 2nd ed”

Sweeping hat tip: Jason

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