Saturday 12 January 2013

See the Taj Mahal and get your exome sequenced

There is an ongoing debate about consumer genetics. Companies such as 23andMe can provide what appear to be rich datasets on the surface but comparisons of results between companies can lead to different conclusions, the raw data can also differ although where the same arrays is used for genotyping this appears to be minimal.

Three camps appear to be emerging, the paternalistic "oh no you don'ts"; the ambivalent "not sure it matters" and the righteous "how dare you tell me no's!" With the debate likely to rage for some time to come.

I had my 23andMe screen and found it very interesting, although certainly not life changing. As Susan Young writes over at the MIT Technology Review, the process is easy but not incredibly informative. However she will keep coming back to her results as more and more information from the scientific community becomes interpretable by 23andMe and others. I whole heartedly agree with her sentiments that consumer genetics should not be restricted.

The release of some fantastic papers last year, with several of these being picked up by news organisations across the globe means that the general public is becoming more aware of what can be done with genomics.

Foetal screening for Down's: The tests being offered by Sequenom MaterniT21 PLUS, Verinata, Ariosa and Natera use non-invasive NGS assays to screen for trisomy 21, T18 and T13 (and more in the future). Wired has a great story covering this technology, I think readers would like.

The tests appear to be as sensitive (potentially more so as sequencing depth increases), more specific (it's not just macro-genomic disorders that can be identified) and costs are affordable. A major incentive for their use is the very significantly lower risk when compared to amniocentesis, which carries a 1% risk of miscarriage as well as risks of injury, club foot, rhesus disease and infection. Hopefully these test will have such an impact on screening that the NHS and other health care providers will adopt them. However the take up is not as quick as many informed mothers would like and some of them are resorting to private screening at a cost of around $500.

What about cancer: there are a couple of companies offering tests for cancer, Genomic Health's "OncotypeDX", Quest Diagnostics lung cancer test, Foundation Medicines "Foundation One" test. This field is behind non-invasive prenatal testing, primarily because the tests are so much harder to validate. Rather than a simple positive/negative on a trisomy a much more complex signature might be required to understand prognosis. There is lots of opportunity for treatment where specific mutations are linked to response. The non-invasive is coming to cancer as well although the possibility of screening non-symptomatic patients is a way off. Cancer patients have formed some very strong advocacy groups and as these tests appear to make more impact on their diseases these groups are likely to push for the tests to be introduced. Companies will offer these on a fee-for-service model as well.

Will "health tourism" start to include exomes and genomes: So if the NHS and other providers can't keep up might a business arise for health tourism to countries where patients can simply turn up, have blood taken and get exome or genome results back in a week for $10,000? I'd not be surprised if you will be able to buy a holiday with genomics thrown into the "all-inclusive" package. Imagine a trip to Delih to visit nxgenbio and then onto the Taj Mahal? Regulation differs from country to country so simply hopping across a border or jumping on a plane could get you somewhere a test can be performed. This will have big implications for individuals, health care providers and insurers.

PS: if any travel organisation needs someone to review five star hotel complexes that offer exome sequencing I have no plans yet for my 2013 summer holidays!


  1. Hi James,
    On a lighter note...
    We have several Holiday packages, there is one in the South if you have already seen Taj Mahal, that is Kerala -Gods Own Country
    The add on is Exome seq at 100X with interpretation at a competitive price done at

    Are you interested. -Ram

  2. I got your website really very interesting. Your writing skill says that you have vast knowledge on this subject. I am glad to read your blog. I do have a small website. Taj Mahal is an elegant monument which stands at the heart of India Agra.

  3. Very nice information,Thank you for sharing..

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