Who's Afraid of Your Genome?
Science Correspondent Ronald Bailey files his second dispatch from the Consumer Genetics Conference.
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The second panel member, Harvard University medical geneticist Michael Murray asked, “What would you do with your genome?” His answer: “For the most part you would do nothing.” He then asked the audience to think about the case in which while reviewing your whole genome sequencing results you found that you had an unknown variant in the TSG11 gene, a tumor suppressor gene. What would you do with that information?
Murray temporarily set that aside to discuss some cases illustrating how genomic information might or might not be useful. In one case, about 36 percent of people of East Asian heritage have a variant ALDH2 gene which causes them to experience facial flushing, nausea, and a higher rate of heartbeats if they drink alcohol. However, if they take an H2 blocker like Zantac, they can drink and not experience these symptoms. So does taking H2 blockers solve all their problems with regard to flushing? According to Murray the answer is no, because even if they take H2 blockers people with the ALDH2 flushing variant are at a much higher risk of esophageal cancer if they drink.
As an example of how genetic information is being misused Murray cited the case of the Atlas First Sportgene Test. The company tests for variants of ACTN3 gene which it claims is related to athletic predispositions. Supposedly some carry a variant that suits them for sprint/power sports and others for endurance sports. However, Murray pointed out that a recent winner of the Boston Marathon was an East African. The so-called endurance version of the ACTN3 gene is mostly absent in East African genomes.
Murray then returned to the tumor suppressor gene variant case with which he opened. So far something like 1,300 tumor suppressor genes have been identified in the human genome. TSG11, on the basis of very thin data, has been associated with lung cancer. Murray worries that a patient, armed with this equivocal genetic information, might demand that his doctor conduct further (unnecessary) testing such as a lung CT scan. And this is where Murray and Kohane revealed their real concerns: They are mightily annoyed by the prospect that patients will have their genomes sequenced and then bedevil hardworking physicians like themselves with questions, follow-up visits, and requests for further testing. Murray actually said, “I believe that physicians should suppress information that is not useful or is uninterpretable.”
During the question period, Rosalynn Gill, the chief science officer for Sciona—who also happens to be PGP#9, or Personal Genome Project Whole Genome #9—challenged Murray and Kohane to provide actual evidence that doctors are being overwhelmed by the demands of consumers of direct to consumer genetic testing. In addition, the fact that physicians are so overscheduled that they can spend only a few minutes with each individual patient suggests that the health care system is broken, not that information should be suppressed.
What Does Your Genome Say About You?
The last panel of the day was devoted to describing various efforts to interpret genome sequencing results. In a sense the main theme of the entire conference is about how to make genomic information relevant to clinical outcomes cheaply and quickly. Martin Reese, the CEO of Omicia, did a nice demonstration of how his company’s Opal genomic interpretation software suite operates. Opal uses a proprietary algorithm to compare whole genomes from people suffering specific genetic diseases with reference genomes to quickly identify rare variants associated with their diseases. Next up was bioinformatics guru Michael Cariaso, the founder of SNPedia, a wiki supporting personal genome annotation, interpretation, and analysis. He is also the author the Promethease program for interpreting personal genomes. He was correctly introduced as “something of a cult figure in our field.” Cariaso gave the audience a quick run through of the capabilities both SNPedia and Promethease. So far SNPedia contains some 35,000 annotated gene variants. If you’re interested in how Promethease works head on over and take a look at what it tells you about my genome.
My final dispatch from the conference will report on talks focusing on using genetic results to track down your ancestry; what it’s like to open up your whole genome to public scrutiny; and how genetic testing can help babies. For more background, take a look at my first conference dispatch, “Virtual Children, Genome Sequencing for Everyone, and Forget Genetic Privacy.”
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social scientist Cinnamon Bloss from the Scripps Translational Science Institute
Is social scientist another word for prostitute or stripper?
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If you Google image her, she looks a lot like Janice from Dr. Teeth and the Electric Mayhem.
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In a few short years, scientists will have completed the Human Genome Project, the mapping of all the genes that make up a human being. We have now evolved to the point where we can direct our own evolution.
Had we acquired this knowledge sooner, the following people may never have been born:Abraham Lincoln — Marfan Syndrome
Emily Dickinson — Manic Depression
Vincent Van Gogh — Epilepsy
Albert Einstein — Dyslexia
John F. Kennedy — Addison's Disease
Rita Hayworth — Alzheimer's Disease
Ray Charles — Primary Glaucoma
Stephen Hawking — Amyotrophic Lateral Sclerosis
Jackie Joyner-Kersee — AsthmaOf course, the other birth that may never have taken place is your own...
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Don't forget about Episiarch.
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I think he's trying to make a point that worthwhile people may not have been born. He was right to leave out Epi.
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Actually this was just the post-credits diatribe from Gattaca.
It wasn't enough that they forced us to watch the insufferable Ethan Hawke for two hours. They also had to give us some polemic screed about how science is evil or something.
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I spend 90% of my life trying to forget about Episiarch.
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Plus, Douchebaggeryism is actually nurture not nature.
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Hey, you can't blame it on your upbringing!
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OR, it's possible that those people would have been born without those diseases.
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Here's a question...would Ray Charles have been a great musician if he weren't blind? Losing your sight sharpens your sense of hearing while simultaneously narrowing what you can do for entertainment or a living. Since music is primarily an aural discipline, this would give him the inclination and time to become a great musician.
Similarly, Edgar Winters probably wouldn't have become a musician if he didn't have albinism. He has stated that the fact he couldn't go outside very often drove him to start playing and mastering various musical instruments.
Now, I'm not arguing against fixing genetic abnormalities; after all, there is an argument to be made that as many or more people could have become great pioneers in any number of various fields had they not been held back by various disabilities, but it's interesting to think about.
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This. Or perhaps more worth while people would have been born or not died in infancy.
Yeah, I got mad as hell watching gattica. The usual anti-science screed from the progressive hollywood crowd. May they all catch antibiotic-resistance syphilis.
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or...along with that knowledge, we would also have known how to treat or cure those disorders.
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"The false positive rate is 0.2 percent and, according to Bianchi, there are no known examples of false positives."
Shouldn't it be saying there are no known examples of false negatives? -
g: Yes. Fixed. Thanks.
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I suspect a good many commentators around here carry the ST2WOK and STTNG gene or variants of them. Probably quite a bit with the SWOT gene as well.
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I have the STTOS and the STDS9 gene.
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I only have the FF gene, and for a while I thought I had the BSG2004 gene but it turns out just to have been the BSG1978 gene.
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Not sure about those but I definately have the B5 and SG1 variants
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Does HIPAA know about all of this?
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FoE: Shhhh.
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Dammit Bailey, isn't there anything we can just be irrationally afraid of without being persecuted????!!
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Mimes.
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" Bloss noted that a Food and Drug Administration (FDA) panel asserted in 2011 “that certain types of genetic tests... should not be used without the involvement of a physician or a genetic counselor.” "
Yes, how dare people get access to information about themselves without first getting permission from a government deputized health information bureaucrat.
The use of mirrors and tape measures should require a prescription and $500 "worth" of counseling too.
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The capacity for sadism and violence within American society; the fluidness of human identity; the dangerous irrationality of sexual attraction and, always, the irrefutable presence of death.
http://fabianzaccaria.com