In the past I have argued that we shouldn’t be too paternalistic about genetic information. I reasoned that genetic information is getting very inexpensive, and will be available as a commodity to many people very soon. Therefore, interposing mandatory healthcare worker between genetic information and the consumer just seems cumbersome and unlikely to be effective. Some have pointed out that there are many people who will need assistance in interpreting their results, and this is a reasonable concern. I think we could handle it in other ways.
For example, how about if for every genetic association study, the journal editors got together and decided that they would require that authors write a lay-oriented summary of their study, and what the potential health (or other) significance of each allele is, and how it may be combined with other genetic or environmental information. These summaries could include statistics for risk and other quantitative information–all of which could be part of the peer review of the article. In this way, there would be a readable summary of each genetic association and its significance created and available at the time of publication. Most importantly, we would ask that these summaries be written using standard templates so that they all had a similar format (perhaps represented in XML or whatever), and we would ask that the journals relinquish claim to copyright (as they do for abstracts) so that these summaries could be reused freely by others.
What’s the benefit of this? Well, first of all there would be basic information available with every genetic association study about how to interpret it. This would be useful for physicians and patients, and could help assist the public in interpreting their commodity genetic data. Second, by relinquishing claims to copyright, the journals would allow the information to be widely disseminated. This would allow third party information aggregators to create improved products to help consumers understand their genetic information. There could be a public “free” version, but companies could compete by providing high quality annotation and others amenities to create a competitive marked for the presentation of genetic data. Some could even have telephone hotlines with real people at the other end, explaining the genetics. Consumers would have a choice about how much help they want to understand their genome. Finally, if these summaries are sufficiently structured and use appropriate controlled terminologies, bioinformatics folks could write pretty cool algorithms to annoate the genome, aggregate related genetic variations, and otherwise create value through the power of bioinformatics.
If scientists take issue with some of these summaries (despite peer review), we can have a process for rebuttal or refutation. These can also be in standard templates, in the public domain, and linked to the initial summary. This would provide alternative views, and would also need to be peer reviewed.
Basically, I am proposing that we handle the issue of “public education” by creating inexpensive and ubiquitous summaries of the health implications of genetic associations, peer review them, disseminate them widely and freely, and allow a market to emerge that helps individuals interpret their genome. One could argue that scientists have a duty to create such summaries all the time, but often fail. I think for genetic research it is mandatory that we scientists take an active role in intepreting the significance of our findings for the general public.