In response to widespread criticism over the value of genetics tests aimed at predicting disease susceptibility, the Silicon Valley based biotech company 'Navigenetics Inc.' has teamed up with 'Scripps Translational Science Institute', an organisation which facilitates the translation of discoveries from the lab into the clinic.
Advances in next generation sequencing technology have resulted in a boom of genetic tests for predicting a person's risk of developing certain diseases, but critics say that the biology behind so-called 'susceptibility genes' is not well enough understood to make such tests useful in a clinical context. In particular, concerns have been raised over genetic tests marketed 'direct-to-consumer', which critics worry run the risk of misleading patients by causing unnecessary anxiety, if false positive, or a false sense of security, if false negative.
The study will monitor 10,000 Scripps Health hospital chain employees, family members and friends, who have had their DNA analysed for their risk of developing 20 different diseases, to see if having the test impacts their behaviour in terms of lifestyle and health decisions. Navigenetics is confident that the study will help show that genetic testing can have a positive impact on a patient's health by encouraging them to make changes to their lifestyle, such as taking regular exercise, adopting a healthier diet, or giving up smoking.
Dr Vance Vanier, the company's chief medical officer, says that anecdotal evidence suggests that patients can benefit from having the test, which costs 2,500 US dollars. 'We've had those individual experiences, but there has never been a study before of this scale and this systematic a fashion to prove that point,' he said.
Scripps hopes to report its first findings in April or May, about three months after participants receive their DNA test results, said director Dr Eric Topol, who is leading the study.