The World of Genetic Genealogy and DTC Genetic Testing Never Sleeps…

In the past week there have been so many articles and posts about either genetic genealogy or DTC genetics that I’m writing them up as a summary post rather than individually.

The New York Times Tackles DTC Genetic Testing

An article in yesterday’s New York Times by Jane E. Brody – “Buyer Beware of Home DNA Tests” – argues that DTC genetic testing is fraught with danger (the article and some of Brody’s arguments are summarized by Grace Ibay of Genetics & Health: “Seven Reasons Why Home DNA Tests Are Hype”).  The author even lumps in genetic genealogy (which has been around for over 9 years now, hardly a “new industry” that has sprung up “to cash in” on new science):

“As a source of entertainment at so-called spit parties or an effort to trace genetic ancestry, the tests might be seen as relatively harmless (unless someone is appalled to discover who their ancestors might be).  But for the many people who are bypassing the medical profession to determine, they believe, how likely they are to develop a life-threatening disorder, experts say direct-to-consumer genetic testing is fraught with potential dangers.”

Oh no, people might be “appalled” to discover their ancestors!  I can assure you that people were “appalled to discover who their ancestors might be” long before DNA testing!!  If the results of genetic genealogy testing upsets people, the government better outlaw census records, historical societies, and grandma’s stories after Thanksgiving dinner because the information you’ll receive there will surely be much more ‘appalling.’

Jen McCabe has a terrific thought-provoking rebuttal to the NYT article at ‘Jen’s Posterous’ – “Paternalism and “Patient Beware” Messages Hit DTC Genomic Testing.”  McCabe does a great job of deconstructing the arguments and countering them with her own.  I’ll admit that I’m terribly biased here, but I think that McCabe raises some excellent points.

I wouldn’t be surprised to see more response to this article, including perhaps at Genetic Future or Genomics Law Report.

Dr. Michael Hammer, the Ancestor Hunter

Miller-McCune has a great article – “The Ancestor Hunter” – about the University of Arizona’s Michael Hammer, who is a major contributor to the field of genetic genealogy.  Many readers will know that Dr. Hammer is also FTDNA’s Chief Scientist.  From the FTDNA about page:

“A Biotechnology Research Scientist at the University of Arizona with appointments in the Department of Anthropology and the Department of Ecology and Evolutionary Biology, as well as Director of the Genomic Analysis and Technology Core facility, Dr. Hammer received his PhD in Genetics from the University of California at Berkeley and was a post-doctoral fellow at Princeton and Harvard Universities. He co-authored the first paper showing that present-day Cohanim are descended from a single male ancestor.”

The article discusses Dr. Hammer’s work in the field, including Native American studies, Cohanim relatedness, and co-founding the DNA Shoah Project, for example.

Questioning a Journalist’s Humanity

A few weeks ago I corresponded with journalist Peter Aldhous of NewScientist magazine about his mtDNA results from deCode Genetics.  Without any other information, he wondered if I could identify the probable haplogroup of two mtDNA samples.  One was easily identifiable, while the other was such a garble that I was thrown for a loop.  So, just to be sure, I wrote back to Peter and asked him a now-infamous question:

“This is a strange question, but are you sure this is Homo sapiens?”

Peter writes in his article:

“It’s not every day that an expert queries whether your DNA is human, so when I received this comment by email earlier this month I was somewhat bemused.

“I am not in fact the result of a coupling between human and alien, nor the product of some twisted genetic experiment. Instead, Blaine Bettinger, who blogs as The Genetic Genealogist, had been baffled by a DNA profile generated in error by deCODEme, a leading commercial “personal genomics” service provided by Decode Genetics in Reykjavik, Iceland. The false profile seems to be the fault of a software bug.”

The article was mentioned by GenomeWeb – “You Are Human, Right?” – and there are two extremely good blog posts about the article and the situation by Daniel MacArthur at Genetic Future – “There’s many a slip ‘twixt spit and SNP: errors in personal genomics data” and Dan Vorhaus at Genomics Law Report – “Leveraging the Crowd to Understand Your Genome.”

So what is the take-home message?  Of course it is not that DTC genetic testing is dangerous or requires government regulation; rather, it is that both DTC companies and consumers must be diligent.  As MacArthur writes:

“But the most important piece of advice for personal genomics customers is to engage with your data.  Aldhous only detected these anomalies because he was exploring his own genetic data in multiple ways, cross-checking it against both other data and his own (informed) expectations, and was persistent enough to follow up on the strange results he found.

“That’s a good example for other personal genomics customers to follow: rather than being a passive recipient of genetic forecasts, dig into your data and see if it makes sense, and keep asking questions until it does. In addition to making it more likely that you’ll pick up any errors in your results, you’ll also develop a much deeper understanding both of the nature of genetics and of your own genome.”

And Vorhaus posits that traditional sources of genetic interpretation – i.e. physicians – might be supplemented by other sources, including genome sharing:

“From unraveling bioinformatics errors, as Aldhous did, to adjusting medications, to uncovering unknown genetic variants, the upside of utilizing an open-access approach to personalized genomic interpretation is the ability to allow an untold number of eyes to comb over your data in search of something important (or perhaps just interesting). It seems highly improbable that any combination of DTC genomics companies and open-source genomics resources will ever completely supplant a one-on-one consultation with a trained medical professional, particularly where clinical genetic guidance is required. And concerns over privacy and misuse of data may inhibit many from sharing their own genomic data, at least at present. But there appears to be a significant role for open-source genomics resources to play in the continuing expansion and democratization of personal genomic inquiry.”

I encourage anyone who is interested in DTC genetic testing or just genetic genealogy to read through some of these articles to get a feeling for some of the issues that are currently being discussed regarding this field.