Video Round-up: Esther Dyson on Charlie Rose, Spencer Wells on Colbert, and important video I can’t show you on genetic discrimination
Esther Dyson was interviewed on the Charlie Rose Show this past week. Charlie Rose ends the show by saying to Esther, “I can’t wait to see your genome”. I think this is the first time I’ve ever witnessed this expression being used like this — said with such endearment too! — but I’m sure it won’t be the last. (A google search for this phrase shows zero results at the time this post was written.)
The first twenty minutes of the show are mostly about Esther’s involvement in the Personal Genome Project (PGP) [disclosure: I work for the PGP]. The discussion doesn’t stop at genomes or health; the rest of the show ventures into the future of commercial space travel, the internet, cookie monsters, personalized search, AI and more. Esther never ceases to inform and inspire me, and challenge the way I think. I’m so glad she is among the folks that will be pioneering personal genomics for the rest of us via the PGP. Check it out:
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?
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.
Here is Representative Louise Slaughter (D-NY) discussing the importance of GINA on the House floor yesterday:
(If you’re reading via RSS, you might need to go to my site to view the embedded video)
Full proceedings from the Congressional Record, April 25, 2007, ~20 pages (PDF)
The PBS television station KQED in San Francisco recently aired a very thoughtful segment comparing online genomic counseling through DNA Direct to traditional face-to-face counseling via UCSF. Check it out:
KQED, Genetic Testing through the Web. Feb 20, 2007.
Full discolure: I am employed by DNA Direct.
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.
A very important paper was published last week in JAMA. The punch line is this: Once the new high throughput diagnostic testing technologies — like massive SNP panels — are widely deployed there will be a significant spike in both true-positive and false-positive results. The implications of this fact are deep and wide.
If you’ve got access to JAMA, check it out. Otherwise, I’ll summarize the important parts the paper later this week.
There are bulls and bears in the world of personal genome sequencing. Some say affordable genome sequencing is decades away, while others say its just around the corner. David Schwartz at University of Wiscon is clearly a bull among bulls:
David Schwartz, a professor of genetics at the University of Wisconsin,
Madison, will describe the research at the Human Genome meeting in
Helsinki tomorrow. Within three years, he believes his lab will have a
test capable of reading an entire genome within an hour for less than
Ian Sample. New test offers speedy reading of genetic makeup. The Guardian. Friday June 2, 2006.
David C. Schwartz profile at University of Wisconsin, Madison
An article published in JAMA last week showed that coffee drinkers that are slow metabolizers of caffeine are at greater risk of heart attack. [Gulp] Caffeine is metaboized via an enzyme (CYP1A2) that lives in the liver. Genetic polymorphisms of this enzyme are common. Some people metabolize caffeine more quickly or slowly than others, related to which version of the CYP1A2 gene they have. [Gulp]
The slow metabolizer variant (CYP1A2*1F, nomenclature here) is quite common, at least in Costa Rica where the study was undertaken–54% of the population were carriers of *1F allele. [Gulp]
I’m currently drinking is
approximately the size
of a small dog.
Figure: The cup of coffee
Cornelis MC, El-Sohemy A, Kabagambe EK, Campos H. Coffee, CYP1A2 genotype, and risk of myocardial infarction. JAMA. 2006 Mar 8;295(10):1135-41.
University of Toronto Department of Nutritional Sciences
Harriet Pearson, Chief Privacy Officer at IBM discusses genetics and privacy in an interview with Scott Berinato of CSO. Listen to the podcast.