Friday, May 31, 2013

Genome sequencing mess

Since the world is more complex than it used to be, it is our duty to prevent any further complication. However sometimes some individuals forget it. The anouncement of sequencing genome for 100.000 citizens in UK last December raised controversy and BMJ right now publishes a head to head on this issue.
This blog has remarked many times that if effectiveness of any benefit is undemonstrated, then value is uncertain and potential harm of its application exists.
The summary of the position against sequencing is the following one:
If we sequence individuals’ DNA and tell them that they are genetically predisposed to be slightly more at risk of common diseases, we may be doing them a great disservice, demotivating them from behaving sensibly. And the private sector will see a marketing opportunity for all sorts of clinically unnecessary and potentially damaging screening, with further negative and unintended consequences. Possessing the technical ability to do something new is not an immediate justification for going ahead with it, especially in such an ethically complex area. Good medical practice requires tests to answer a specific question with a reasonable expectation of results being interpretable and useful. Currently, whole genome sequencing in healthy individuals has nothing to offer clinically because most of the data generated are meaningless; the maxim first do no harm still holds.
However, a subtile strategy has emerged recently. The Wellcome Trust will  finance with 3.2 m € a pilot study in London to analyse 97 cancer predisposition genes starting in 2014. It's not by chance, it coincides with Angelina Jolie double mastectomy recent news, and the patent expiration in 2014 of BRCA genetic tests. Is this a philantropic affair? or market access strategy?. The answer is yours.

PS. Beware of nonprofit foundations working for profit. This is a succesful strategy for market access when regulatory constraints have been set up and transparency rules apply. In such cases free lunches exist suspiciously,  but in the long-run they always disappear, and the social cost is enormous.

PS. A call to challenge "Selling Sickness"

PS. Save the date Sept 10-12 to prevent overdiagnosis.

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