• Tue, Mar 18 2008

Genetic testing – ‘recreational genomics’ or the future of diagnostics?

In January, The New England Journal of Medicine published an article criticizing the popularization of genetic testing by companies such as 23andme, deCode, Navigenics and Knome who doctors believe are introducing genetic testing prematurely into a commercial setting and confusing public and medics alike.  The authors of this article coined the phrase ‘recreational genomics’ for this type of testing.

While all of these companies claim that their tests should not be used as the basis for medical decisions, some physicians are concerned that customers for these tests will nevertheless begin seeking medical direction based on their results.  Doctors have been unprepared for the genetic advice they need to give their patients. 

The British Medical Journal has also published an equally critical article on the commercialization of genetic testing written by Exeter University Professor of Epidemiology and Public Health, David Melzer, whose own interest lies in research on genetic and conventional risk factors for chronic conditions of ageing.

Among the author’s concerns, is the need for strong regulatory oversight of genetic tests, tests based on empirical evidence, and public and physician education based on sound and transparent information.

“Although major scientific progress has been made, clinical applications are still mostly unclear,” Melzer wrote.

He suggests the key value of genetic markers may be in providing clues about disease mechanisms. On the other hand, he argues that few of the current markers are useful diagnostically, particularly those associated with moderately increased risk and/or with conditions for which no preventative interventions are available.

My personal belief is that introducing innovative genetic testing technology has to start somewhere.  With genetics we will never understand 100% of the complexities and interactions between our DNA and the environment - that is for the ‘divine being’ to know.  These genomic companies have taken a huge financial and clinical risk in bringing these tests to the market.  The tests are in their infancy and each of these companies are transparent in advising their customers of this fact.  That said, massive scientific research continues to take place to build on the knowledge base of these tests, so that they may be refined.  This process will never end.

Most people are fascinated by their own health and mortality.  Millions are spent on a plethora of mainly unproven herbal drugs and vitamins that have the potential to damage an individual. Many more millions are spent on early stage gadget technology.  If an individual wishes to understand more about their genetic risk of developing a disease and testing is available then it is also their right to purchase a test.  Surely commonsense dictates that raising an individual’s awareness of their risk of developing a disease is a good thing, particularly if that individual takes control of their health and well-being by perhaps eating more sensibly and taking more exercise?

In terms of patient education and support, these genomic companies are providing some pretty in-depth advice which customers have access to.  In terms of doctors providing more information and education on genetic testing, the question needs to be asked as to why medical schools are not preparing doctors sufficiently in this area? Genetics and the knowledge of the role it will play in diagnostics has been around for a good 30 years! Genetics and genetic testing should be part of the core medical training syllabus and ongoing professional education. 

… and for that matter it also needs to be taught as part of the school syllabus.  Genetics has come along way since Gregor Mendel’s pea plant experiments in the 1850′s and yet that is still the level of subject knowledge our kids are being taught!

Elaine Warburton  www.geneticsandhealth.com

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