A new paper by authors from the PHG Foundation reveals that the size of the direct-to-consumer genetic testing market may be much smaller than typically supposed. This market is of considerable interest in terms of potential impact on medical services, as well as the psychological, social and economic effects on consumers and the potential need for regulatory measures.

However, determining the actual size of the market is difficult; it is widely proclaimed to be burgeoning, but as such statements often come from providers who hope to boost sales this is not necessarily accurate. Sales figures are not publicly available. The researchers therefore set out to estimate the size of the DTC genomic testing market based on the three leading providers, restricting their analysis to disease susceptibility testing (as opposed to forensic, ancestral or paternity testing services). Analysis was based primarily on the three leading providers (23andme, Navigenics and deCODEme) for 2009, and a combination of reported customer numbers and internet traffic as a proxy for commercial activity [Wright CF, Gregory-Jones S. Genet Med. doi: 10.1097/GIM.0b013e3181ead743].
 
The total number of unique website visits for the three companies was just over 662,000; 23andme had the largest market share (78%) compared with 15% and 7% for Navigenics and deCODEme respectively. Assuming steady growth in sales, an estimate of 20-30,000 test purchases (equating to less than 5% of website visitors) was reached, which would equate to a commercial value of US $10–20 million. Notably, this is much lower than previous estimates of more than US $700 million.
 
The authors therefore conclude that current levels of consumer genomic testing for disease susceptibility are unlikely to have a major impact on health systems, although they note that emerging forms of testing such as whole genome sequencing could have a greater effect.
 
Comment: This analysis suggests that considerable disparity may exist between perceived and actual levels of DTC genetic testing. Market forces mean that the popularity of services are exaggerated, although in the longer-term the financial status of companies is likely to reveal a more accurate picture; deCODE filed for bankruptcy at the end of 2009 (see previous news). Considering the potential medical and social impact of new and emerging products and services will continue to be important, but attempting to verify the scale of their impact is a useful element of this process.