Your Digital Genome

Within years, you will be able to obtain a digital copy of the complete DNA sequence of your genome for a few thousand dollars. The sequence itself can be arbitrarily copied and disseminated over the Internet. The question is whether you want to know the sequence, and what you will do with the information provided.

As a modeller working in the field of computational genomics, I have prepared for the ubiquity of individual genomes by developing algorithms that examine and characterise all proteins encoded by the genomes in terms of three dimensional structure, their function, and interaction with other proteins, DNA, RNA and other substances. I see it as a way to not only understand the shared traits we possess, i.e., what makes us human, but also what makes me so uniquely me. On a pragmatic level, it opens the door to personalised medicine where computer modelling can be used to predict the likely diseases that you may be susceptible to, as well as potential therapies targeted to your genome.

At the outset, it seems unlikely that individuals will bear the cost of their genomes being sequenced and it will be a novelty item for those who can afford it. But what happens when insurance companies are willing to pay for it? Will we see disease oriented activism, where groups of people with genetically predisposed diseases such as type 2 diabetes, schizophrenia, or breast cancers band together and examine their DNA collectively using publicly available software programs? Will we have repositories of such genome sequences (and perhaps samples) publicly available to researchers? Will you be able to make your genome sequence available to your friends and their friends on social network profiles? How much will (knowing) your genome sequence define the nature of your interactions with other individuals?

The reasons to know your genome sequence may ostensibly be to better manage your own health, and ensure the health of future offspring. Besides, individuals responsible for sequencing their own genomes may be exquisitely posed to provide proper "informed consent", and control how that information is doled out, addressing many of the ethical issues that exist with DNA research currently.

But a dark side exists, where groups of people may define race or sexuality in terms of genome sequence exclusively (genetic bigotism), where people may engage in subtle or explicit eugenics as it pertains to their mates and offspring, or more simply, where it is used to justify preexisting xenophobia and engage in arbitrary discrimination. Clashes about who controls an individual genome sequence may arise between parents, guardians, and children. What will prevent your genome from being sequenced by others without your permission or knowledge? Will seemingly altruistic genome respositories hoard genetic information from society for profit? The US Genetic Information Nondiscrimination Act of 2008 (GINA) addresses some of these issues, but it is far from comprehensive. The protection across the world is uneven. Societal and legislative backlash against individual genome sequencing may result in large setbacks for positive research some of which may well be outlawed. However, laws against the misuse and abuse of genome sequences by individuals will be as ineffective as copyright law with regards to music, movies, and software piracy on the Internet, i.e., largely unenforceable with rampant infringement.

The ability to produce individual whole genome sequences will soon be a reality. How it is used depends on the framework upon which it is obtained. Strikingly, while there is a lot of discussion on the ethics of wet DNA research and how to use the samples provided, there is little discussion within the broader society as to how to prepare for handling digital genome sequence information which is infinitely reproducible. What will you do if someone told you they would sequence your genome from a spit sample and make it available on the Web for you, no cost or obligation?

Pseudointellectual ramblings || Ram Samudrala ||