DNA sequencing is becoming cheaper and faster. In fact, full genome sequencing is possible. It seems reasonable to assume that this increase in speed and decrease in cost will persist. As such, genomic medicine, where the patient’s genomic information is used, is poised to become ever more prevalent. Some of you may have heard about the Stanford professor Michael Snyder, who has generated an enormous amount of personal health-related data through the use of various so-called ‘omics’ techniques. It’s not unlikely that this could be considered a window into the (near?) future of personalized medicine. Everyone a personal, humongous store of health information, based on genomics and other ‘omics’, detailing risks for conditions, allowing prediction of adverse drug effects, and so on.
But, health and disease are more than DNA sequence. The environment matters too. Likewise, genomic medicine is not just generating the genomic information of the person under consideration. Other matters that need to be taken into account when forging the path towards a true, integrated genomic type of medicine include:
- Information Technology: genomic data-sets are large. Very large. If this is complemented by other ‘omics’, then the data-set becomes truly enormous. It speaks for itself that the computational tools to handle this should be further pursued. Both in terms of infrastructure (storage capacity, usability in different interfaces,…) and analysis (looking for specific gene variants, integrating environmental and other information,…). Furthermore, the visualization of all this knowledge should be intuitive so that non-specialists and, ideally, the patients themselves can make sense of the data.
- Training: healthcare professionals will increasingly be confronted with this genomic data. Including training in the interpretation of this data is thus certainly relevant. And instruction on conveying what the data means in a correct, yet understandable, manner to the prospective patients is important as well. But beyond that, public outreach can help in communicating some fundamental concepts to a wider audience. Related to this, an overall strengthening of science education can surely contribute to a better understanding of the issues.
- Society: the development of genomic medicine doesn’t happen in a bubble, but within a social context that shouldn’t/can’t be ignored. Regulations for using the data generated will be needed (for example, who owns the data?). Privacy issues will arise. Psychological issues will too. How will people deal with the knowledge that they have such a risk for that disorder? And with the inherent uncertainty? And many more issues need to be addressed, such as, among others, free will, genetic discrimination, the availability and cost of it all, and the conceptualization of health and disease.
- Research: to make proper use of the genomic data, additional research on the genetic and non-genetic components of disease can only be beneficial. Another factor, that has received a lot of attention recently, is the microbiome. The countless micro-organisms that have made their home inside us can have a significant effect on our health. This information and knowledge need to be extended and integrated in the genomic medicine framework. Practical issues arise as well. How will further genomic medicine research be performed? Should people contribute their data voluntarily, or can researchers access certain (anonymous) databases?
There are, of course, other issues to be discussed, but these should provide a good starting point. Despite the work that remains to be done, genomic medicine doesn’t seem to be too far away, and its potential benefits are tangible. Progress is being made.
In the words of authors of a recent review on the topic:
Successfully navigating a course from the base pairs of the human genome sequence to the bedside of patients seems within reach, would usher in an era of genomic medicine, would fulfill the promise originally envisioned for the HGP and, most importantly, would benefit all humankind.
An even more recent brief article on genomic medicine concludes as follows:
Generating data on a genomic scale is exciting, and important, but of course we must always remember that sequence data alone cannot cure disease. It is only by engaging more actively with clinicians, and particularly with patients and the broader public, that we will be able to convert these data into systems that genuinely improve lives.
So, while genomic medicine will not cure all the ills in the world, it does seem able to make a valuable contribution to that goal. Genomics for all?
Chen R, Mias GI, Li-Pook-Than J, Jiang L, Lam HY, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, O’Huallachain M, Dudley JT, Hillenmeyer S, Haraksingh R, Sharon D, Euskirchen G, Lacroute P, Bettinger K, Boyle AP, Kasowski M, Grubert F, Seki S, Garcia M, Whirl-Carrillo M, Gallardo M, Blasco MA, Greenberg PL, Snyder P, Klein TE, Altman RB, Butte AJ, Ashley EA, Gerstein M, Nadeau KC, Tang H, & Snyder M (2012). Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell, 148 (6), 1293-307 PMID: 22424236
Green, Eric D., Guyer, Mark S., & National Human Genome Research Institute (2011). Charting a course for genomic medicine from base pairs to bedside. Nature DOI: 10.1038/nature09764
MacArthur, Daniel G., & Lek, Monkol (2012). The uncertain road towards genomic medicine Trends in Genetics DOI: 10.1016/j.tig.2012.05.001