Richter Scale and Your Genomic Portfolio

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?

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Can I see some ID?

Should there be a minimum age requirement for personal genome sequencing? If so, what age?

Or maybe that question is irrelevant — or only relevant for the next decade or two. Future generations might get sequenced at birth (or maybe even prior to birth via PGD). That might leave no individual choice about personal sequencing, in which case, maybe there will be regulations about the minimum age for disclosure of personal genomic data to individuals. 13? 18? 21? 30? What age?

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‘Omics’ word of the day

Exposome: The collection of an individual’s environmental exposures over a lifetime.

HT: Christopher P. Wild in this article

Also see:
Wikipedia’s “omics” page
My CiteULike page (it’s RSS feed)

Oh the horror

I just looked at Jim Watson’s genome I think. Thats not the scary part. What is shocking to me is how much work we have to do in order to make a user interface to human genomes that doesn’t make my head spin.

Sequencing is quickly becoming the easy the part. A freshly liberated ladder is of little help if I can’t figure out how to use it. We need more genomic cartographers.

The Genomic Cartographer:
1 part bioinformatician
1 part beautician
mix and serve

Update: This Genome Browser is looking promising.

Twittering Toilets and Phenomic Death Wishes

Unlike the first human genome sequence, which (rather mysteriously) we are able to “complete” every few years it seems, we may never be able to achieve a complete human phenome.

The totality of human physical traits, from the molecular to the behavioral levels, contains just too much information. There are many reasons why setting out to collect a complete human phenome is ill-advised, but even shrinking the goal to a much more manageable-sounding level like 0.01% of a human phenome will still face significant challenges, some economic, some technological, some social-ethical-legal-personal-and-everything-else.

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Best Sentence I Read Today

Who knows how long it will take for personal genomes to become useful, but one thing is for certain, someday it will be said that it all started with the genomes of ten volunteers.

From a very thoughtful comment by Willy Lensch on this blog post about last Wednesday’s meeting with the first 8 volunteers and the staff of the Personal Genome Project (including me).

More notes on the meeting to follow soon…

Medical Ethics 2.0

As powerful web technologies are applied to the practice of medicine the relationships between patients, health care providers, and scientific researchers will be reconfigured in new and interesting ways. Watching the early stages of this transformation has made me in recent weeks begin to reflect more on how this reconfiguration is going to impact medical ethics. I’ve come to the tentative conclusion that while we are in the very early stages of “medicine 2.0” we are in an even earlier stage of “medical ethics 2.0” and this may have some unforeseen consequences for early adopters of these new web technologies.

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