The field of personal genomics needs a richter scale. This scale would provide a mechanism for giving each new genomic association a score, maybe from 1-10, based on some criteria such as penentrance, actionability, and validity. Existing genetic tests should be scored as well. Commercially available tests might have additional criteria, like whether there is an FDA-approved test or whether the test is reimbursed.
The higher the score the “better” the association or test. A low score might indicate that the association is very likely just “noise” regardless of the fact that it was all over your morning newspaper.
This scale will be very handy once you have a copy of your own genome. Let’s be honest, if you’re sipping on your morning cup of coffee, reading the paper, and see an article about a newly discovered “gene for alzheimer’s” or “snp for sudden stroke”…you’re going to be compelled to run over to your computer to see if your genome possesses that genetic variant. Without a good way to quickly judge the relevance of the news article, journalistic sensationalism may have you running over to your computer several times a day. That doesn’t sound like a very good use of time, does it?
George Church’s IRB has been approved for the first recruitment phase of The Personal Genome Project and he is looking for volunteers:
The Personal Genome Project (a collaborative project with researchers from Harvard Medical School and Partner’s Healthcare) is recruiting seven individuals to participate in a new approach to Human Genome/Phenome comprehensive data integration including ‘identifying information ‘ such as genome sequencing and facial features. The PGP is also championing a new IRB-approved consenting mechanism which frankly discusses the likelihood of disclosure of identifying information in many modern medical research projects and this one in particular. We are seeking a diverse range of volunteers, male and female, from all backgrounds. Our IRB approval restricts us to volunteers with at least a master’s degree in genetics or equivalent. Consent forms will be signed and blood drawn at Partner’s Healthcare Clinical Center in Boston.
If you’ve never heard of The Personal Genome Project (PGP), check out the main page. I also noticed George has posted a fantastic summary of ways in which anonymity of personal genomic data can be compromised. This project is designed for individuals who are willing to contribute to the advancement of medical research with their eyes wide open. For those who see value in making their genomes transparent, George has been careful to make the risks as transparent as possible. The infovores and health information altruists couldn’t ask for a better leader on this front.
The next task will be to expand the project beyond Boston…Stay tuned.