Meet your Genome

Imagine this:

Before prescribing one of several medications for an illness, your physician scans your genome using a computer. He or she looks for certain genetic markers, perhaps unique to you, which indicate particular susceptibility to side effects and any potential resistance to therapeutic benefits of the meds in question. Finding that your genetic configuration makes one medication ideal – it’s effective with no or minimal side effects – you get your tailor-made prescription.

Now imagine this:

While applying for life insurance (Genetic Information Nondiscrimination Act doesn’t apply here), potential insurers ask for your genomic data, at which time they screen for future diseases. You’re denied.

Together, the scenarios illustrate in part the potential of easily accessed – indeed, in some cases, publicly available – genetic information.

Two weeks ago, Harvard genetics professor George Church unveiled the Personal Genome Project, an online and publicly accessible database of human genomes.

The genetic blueprints and trait profiles of Church and nine other volunteers map out various characteristics, from weight and height to food and entertainment preferences. The project constitutes the nucleus of what he hopes will be the beginning of a new era in medicine, genetics and biotechnology, and perhaps will glimpse illnesses-to-be, allergies, interesting ancestries and perhaps a better understanding of the relationship between genetics and environment regarding different forms of cancer. One posed question could be: Is getting a given cancer really influenced by my actions and environment or not?

At any rate, the project is exciting for the same reasons that made phenomena like the Mozilla Project, the iTunes App Store and wikis so effective in providing information and producing functionality. The influence of each hinges on the uniting of data, a dedicated user base, mechanisms for sharing and integration, and a spirit of collaboration, and applied to genomics, health, and disease. The potential to harness such a powerfully nuanced and creative machine of innovation is exciting.

Despite the reservations of some groups worried about new kinds of discrimination – we should certainly proceed with caution – understanding the way the genome makes us who we are represents the next frontier, our generation’s outer space, where much exciting research takes place.

Personalized medicine is the future, as is preventing disease, and the genome has considerable input on both.

It deserves mention that medical infrastructure in particular is still lurching and limping toward implementing information technology and electronic health records. Without both, a seamless network in which medical data – genomes included – can be exchanged efficiently and with attention to privacy between health care providers and patients remains firmly out of reach.

Nevertheless, I think the Web 2.0 movement has important tools to contribute to patient and public empowerment, medical practice and scientific research, especially when the Personal Genome Project is thrown in. Consider Firefox, a browser constantly improved and updated by a devoted and informed user base, and how enabling a similarly informed scientist base would result in personal gene exploration tools for the general public. We could all, you might say, finally meet our genomes.