Is genomics finally coming of age?

Last year marked ten years since the Human Genome Project created a database of the entire sequence of human DNA. A recent IDC blog post flags up a couple of recent announcements in the commercial sector which suggest that the potential for exploitation of this enormous data set is beginning to be realised.

Large data-generating projects, once completed, spawn investigations and developments for a very long time. There are similar-scale projects in, for example, astrophysics. I was on the fringes of one, a few decades ago now; there have been others since. The expectation is that researchers will analyse the data, taking advantage of its scale to do serious statistical analysis; and then, based on this, design further practical experiments to test hypotheses drawn from the data. In the case of the IRAS infrared sky survey: the mission flew in the mid 1980s and the draft catalogue was published in 1984. New research based on the data is still being published, thirty years later.

So, maybe, the expectations of a revolution in medicine based on genome data were appropriate but the expectations of immediacy were not. When all this began to happen, I was working for SmithKline Beecham (now part of GlaxoSmithKline). Like the other major pharmaceutical companies at the time, SB acquired a pharmacy benefit manager. But we also had a clinical laboratories business. The vision was that we would be able to aggregate and analyse data from different parts of the healthcare chain: the scripts being written (that is, what was being prescribed for a large representative population), the laboratory tests being requested (giving a picture of pathological conditions again across a large population), and clinical trials data for new drugs. And it was anticipated that new knowledge based on the genome data would link with these.

Pharmaceuticals are developed for populations: and within populations there is variation. So not everyone’s version of a disease is the same; not everyone responds in the same way to a treatment; and, in some cases, there are side effects which outweigh the benefit of the drug. The vision of genomics was – and still is – that by understanding an individual’s genetic make-up you can design a treatment for that individual, rather than prescribing something based on the normal response of a large population. Especially in genetically-oriented diseases.

SB’s former clinical laboratories business became part of Quest Diagnostics. And the pharmacy benefit managers all (I think) returned to independence. Quest has just acquired a company called Celera; and one of the pharmacy benefit managers, Medco Health (formerly Merck Medco) last year acquired another genomcis company, DNA Direct. In different ways, these acquisitions mark a significant stage in the transition of DNA analysis and screening, in the US health sector, from academic and specialist laboratories into the healthcare mainstream. Quest will be able to offer genomic profiling as “just another lab test”.

And Medco, as a benefit manager, will be able to use similar data to select more directly appropriate treatment. DNA Direct offers physician, client and patient support services alongside its testing.

In technology terms, these are data analysis businesses. Like IRAS, whose database is still creating new science, genomics will surely have a very long tail. It’s only just starting.

• Major Signpost #2 for Genomics Growing Role in Healthcare: Quest Buys Celera, Alan S Louie, The Changing Life Sciences Value Chain (IDC Health Insights), 21 March 2011
• Quest Diagnostics to Acquire Celera, Strengthening Position as World’s Leading Innovator in Molecular Diagnostics and Development. Quest Diagnostics press release, 18 Mar 2011
• Medco Acquires Leading Genetics Healthcare Company, DNA Direct, DNA Direct press release, 2 Feb 2010

United Healthcare announces sale of Diversified Pharmaceutical Services to SmithKline Beecham for $2.3 billion, press release, 3 May 1994 (archive at Highbeam Research)

• IRAS satellite: see e.g. Beichman, C.A., et al (1987),  Infrared Astronomical Satellite (IRAS), Catalogs and Atlases, Vol. 1, Explanatory Supplement; NASA-RP-1190

• A vey recent IRAS-derived research paper is: Iwasawa, K., et al (2011), C-GOALS: Chandra observations of a complete sample of luminous infrared galaxies from the IRAS Revised Bright Galaxy Survey, Cornell University (Astronomy & Astrophysics, to be published)

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