Do we need to be reminded that genetics has undergone an amazing revolution for the last decade? Since the first human genomes were decoded in 2002 - after 10 years of research and a staggering bill of more than 1 billion dollars - the sequecing technology, which allows for a full genome to unfold, has followed Moore’s law: becoming faster and cheaper by a factor of 10 each year. 

So much so, that some companies, such as “23andMe” or “deCODEme” advertise that they can sequence a genome, or rather some parts of it, for a “meager” $1000, offering the possibility to discover one’s susceptibility to develop a whole array of diseases. But despite this seemingly extraordinary offer, some top experts participating at a panel on personal genomics during the 6th World Conference of Science journalists believe that it is best to wait a while before having your personal genomes sequenced.

The reasons are multiple. They range from not knowing enough about how to interpret the results and getting an inaccurate assessment of your genome, to the lack of regulation of the industry, all this leading to potential personal harm, undue anxiety and stress, and potentially to violation of privacy. 

“The harms of this business are very subtle,” said Chirstopher Hood, advisor on this issue to the Nuffield Council of Bioethics. The problem arises from the fact that these kinds of tests are directed at consumers, and bypass the healthcare system. Currently there are roughly 300 genetic tests that are available through the regular pipeline of health care. They involve monogenetic diseases, such as Huntington's disease. But the 1000 dollars genome approach is different. “Direct-to-consumer genetic tests are marketed by companies, they involve complex diseases such as diabetes, cancer, or Alzeimer’s disease which are very hard to interpret, and these companies are either very loosely regulated, or not at all, depending on which country you live in,” he adds. 

“Companies will tell you that they will update you as they become more able to analyze the information, but the reality is these companies might not survive long enough to be able to do that,” added Hood. A situation echoed by the chair of the panel, Mark Henderson, science editor at the Times, who had his personal genome sequenced by deCODEme. “It made me wonder: what would happen with my personal genetic information if they ever go bankrupt,” he said.

Editor in chief of Bio IT world, Kevin Davies, who also had part of his genome sequenced, has a different take on the issue:  “The consumer genomics companies are generally doing a good job of updating customers as information improves. Plus, there is very little evidence that knowing you carry the APOE gene, associated with Alzheimer’s disease will create anxiety,” he told the delegates. “On the other hand, individuals do rush out to purchase long-term care insurance when they find out about it.” 

This makes Sir Mark Walport, director of the Wellcome Trust, predict that insurance companies will very soon hike their rates on the basis that all medical treatment will incorporate some genetic information. According to him, most people do not understand what personalized medicine based on genetic tests will do for them. “It is an exciting time in genetics but people do get it wrong about what genetics can do for them,” The $1000 genome is not about having the genetic blueprint of your fate, he explained, except possibly for people who have rare genetic disorders. But it is rather about tailoring drugs to specific genotypes, breaking down diseases into sub-types. "In principle we are ready for the $1000 genome, but in reality we are NOT in the sense that we only know the tiniest fraction of all the genetic information that we are currently able to retrieve from sequencing,” he concludes.

Véronique Morin