Are we ready for direct-to-consumer genetic testing?

Abstract

On Dec 2, 2014, 23andMe, a company based in Mountain View, California, USA, launched its Personal Genome Service in the UK. For £125, UK citizens could suddenly fi nd out more about their genetic selves, including information about their ancestry, traits such as their earwax type, how they might respond to certain drugs, and rather more delicate information about their carriage of certain diseaseassociated alleles, all without ever having to visit a doctor. Just send in your spit sample containing your DNA, and the results come back directly to you, the consumer, potentially empowering you to manage your health. The trouble is that hardly anything about direct-to-consumer (DTC) genetic testing is free of controversy. There can be no doubt, however, that 23andMe’s arrival in the UK has placed the country at the centre of the debate on how we should respond to this technology which opens doors through which we may not be ready to walk. Genetic testing and counselling has long been used by health systems across the world to help individuals and families respond to the inherited diseases that aff ect them. DTC genetic testing, in contrast, allows people to personally fi nd out what disease-associated genes they may carry, upfront, without any medical interface. The early warning such information could provide might allow consumers to make changes in their lives that might prevent disease onset, or reduce its personal and familial impact. It’s a powerful argument in favour of such testing. “In some cases, testing might certainly empower you”, says Angeles Cuadrado, Senior Lecturer in Genetics at the University of Alcala, Spain. “If I were to discover that I carried a harmful mutation of the BRCA1 or BRCA2 gene, which would mean I had a much greater chance of developing breast cancer, I could use that information to ask for earlier and more frequent screening, and perhaps catch a tumour sooner, increasing my chances of survival. I could tell my daughter she should consider testing too, giving her an increased chance of avoiding or surviving the disease. It’s a convincing reason for people to seek this type of testing.”