Genetic Testing Under the Microscope
Genetic testing has once again come under the microscope, triggered by an article in the journal Science: “A Case Study of Personalized Medicine.”
In my opinion, adding to the conversation about genetic testing is always a good thing.
That being said, my biggest complaint with many of these articles (especially in the popular media) is that they tend to lump together every test that examines DNA. There are different types of genetic testing with different levels of quality control, interpretation, etc. The results, scientific background, and effects of tests offered by large-scale genome scanning companies, clinical entities, direct-to-consumer companies, and pharmacogenetic companies are not the same. When dealing with a readership that does not have a background in genetics (which is probably 99% of the readership), the media should take extra care to note these differences. Lumping every DNA test together does little to properly educate the public.
Also unclear from almost every article is how genetic genealogy fits into the conversation. Based on what I read online and in the media, I still get the impression that most people are either unaware of genetic genealogy, or fail to understand the (20+ years of) science behind it.
Here is a round-up of the discussion triggered by the article:
- Newsweek – Beware Genetic Snake Oil
- Genelex – Science magazine fuels DNA testing controversy with prejudicial misquote
- Genetics & Public Policy Center – Marketing of unproven tests a threat to public health
- Wired – Lawless Gene-Testing Industry Needs a Sheriff, then updated with FDA, 23andMe Respond to Gene-Drug Test Article
- GenomeWeb Daily News – Policy Paper Calls for More Pharmacogenetic Oversight
- DNA Direct – DNA Direct Replies to Science: A Case Study of Personalized Medicine, and DNA Direct’s Official Response (pdf)
- Eye on DNA – Direct-To-Consumer Genetic Tests – Good or Evil?
- Ars Technica – Direct to consumer genetic testing raises concerns
- Bloomberg.com – Gene Tests May Be More Confusing Than Illuminating
- Personal Gene Scans – Personal gene scans: Vanity or science?
P.S. – another pet peeve is that the authors of these studies felt that public health is being threatened and wanted to educate the public, but submitted their article to a closed-access journal. A double-edged sword, I suppose; publish in a high-profile journal to attract attention, or risk less attention from publication in an open-access journal. This work was presumably funded by the Genetics and Public Policy Center, which in turn is funded by “The Pew Charitable Trusts, with research funding from the National Human Genome Research Institute and the U.S. Department of Veterans Affairs.” Thus it would appear that my tax dollars helped fund the work. I wish I could read it without paying $10 for access through Science.


April 7th, 2008 at 10:52 am
genetic testing companies will have a lot to mull over this weekend after the publication of a Genetics and Public Policy Center case study of personalized medicine in Science. The authors examined… Covered By: thegeneticgenealogist.com,thegeneticgenealogist.com
April 4th, 2008 at 8:20 pm
For more statistics about genetic testing for drug metabolism, which was the target of this article in Science, see Eye on DNA’s post and the Personalized Medicine Blog’s response. Update 4/7: The Genetic Genealogist has a goodround-up of news coverage and blog postson this article. He says, “…my biggest complaint with many of these articles (especially in the popular media) is that they tend to lump together every test that examines DNA. There are different types of genetic testing with different levels of
May 6th, 2008 at 8:30 am
genetic testing that they might be susceptible to devastating diseases wouldn’t also have to worry about losing their jobs or their health insurance under anti-discrimination legislation the Senate passed Thursday. ————————-http://www.thegeneticgenealogist.com/2008/04/07/genetic-testing-under-the-microscope/Genetic Testing Under the Microscope Cardiovascular Disease http://www.medscape.com/viewarticle/543910?rss From Nature Clinical Practice Cardiovascular Medicine Genetic Testing in Cardiac Disease: From Bench to Bedside
April 7th, 2008 at 7:39 pm
published an article about direct-to-consumer genetic testing companies. They made a mistake by presenting heavily only one of the two sides of the story. DNA Direct and Hsien-Hsien Lei posted their answers.Blain Bettingercreated a collection of related articles. And now the topic was Indexed: No matter what the DNA test says.
April 7th, 2008 at 3:39 pm
[...] Blain Bettinger created a collection of related articles. [...]
April 15th, 2008 at 4:42 am
[...] Comments Genetic Testing Unde… on Science magazine fuels DNA tes…Malcolm on In vitro analysis of the herba…DNA Direct Talk [...]
November 18th, 2008 at 3:15 pm
Yes, this work was presumably funded by the Genetics and Public Policy Center.
June 8th, 2009 at 2:20 am
Ah, very advanced
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