Today begins the first in a series of articles about the use of genetic genealogy and personal genomics in the classroom, ranging from high school to college-level.
Many scientists and health care experts believe that genetics will be a vital component to several facets of our lives in the future, especially in the field of medicine. Indeed, some consider the study of genetics to be one of the most promising solutions to many of the health dilemmas facing society today, including advancing our understanding of interactions between genetics and the environment. Accordingly, today’s students should have at least a basic grasp of genetics, and science educators must find innovative ways to share those concepts with their students.
Today, I’m reviewing the new autosomal DNA test from Ancestry.com called “AncestryDNA.” I’ve already written at length about AncestryDNA, so I won’t cover too many of the basics here. I have an in-depth introduction to the product located at “Ancestry.com’s AncestryDNA Product,” which you might want to check out before or after reading this review in order to gather more information.
AncestryDNA: An Introduction
The introduction page, which appears after clicking on “View Results” on the front page, consists of my Genetic Ethnicity Summary and the Member DNA Matches (which is further broken into close cousins and distant cousins, as discussed in detail below). Please note that for purposes of this review I’ve removed the identifying information for my genetic matches.
Last week, I participated in a webinar with Ancestry.com regarding the AncestryDNA test (although, unfortunately, I had to leave a bit early due to a previous engagement). It was a great list of about 10 well-known genealogy bloggers, each one of whom is someone I’ve been reading or following for years. It was an honor to be included among them.
One of the participants was CeCe Moore of Your Genetic Genealogist. CeCe has a nice summary of the webinar and the important points about the autosomal test and the user interface at “New Information on Ancestry.com’s AncestryDNA Product.” If you’re interested in autosomal DNA testing, or in Ancestry.com, I highly recommend reading her post.
PRI’s The World, a weekday radio news magazine, has a new piece by producer Carol Zall entitled “Roots 2.0: Using DNA to Trace My Ancestry.” The piece makes for a great introduction to genetic genealogy. I especially like the 35-year-old interview between the young Carol and her grandmother, as well as Carol’s interpretation of her results.
I spoke with Carol a few months about this piece, and she included a few quotes from the interview in the article. Also included is a 2-minute soundbite of our conversation:
This morning’s Keynote at Rootstech 2012, was from Ancestry.com and was entitled “Making the Most of Technology to Further the Family History Industry.” Although I was unable to attend Rootstech in person this year, I was able to view the keynote online.
During the panel discussion, we heard from Ken Chahine (LinkedIn profile), the Senior Vice President and General Manager, DNA at Ancestry.com. From his profile at Ancestry.com:
Ken Chahine has served as Senior Vice President and General Manager for Ancestry DNA, LLC since 2011. Prior to joining us he held several positions, including as Chief Executive Officer of Avigen, a biotechnology company, in the Department of Human Genetics at the University of Utah, and at Parke-Davis Pharmaceuticals (currently Pfizer). Mr. Chahine also teaches a course focused on new venture development, intellectual property, and licensing at the University of Utah’s College of Law. He earned a Ph.D. in Biochemistry from the University of Michigan, a J.D. from the University of Utah College of Law, and a B.A. in Chemistry from Florida State University.
The genetic genealogy world is abuzz following a recent report in news outlets around the world (including CNN, Seattle PI, Daily Mail, etc) that investigators have used public genetic genealogy DNA databases for leads in a 20-year-old cold case.
In December 1991, 16-year-old Sarah Yarborough was tragically murdered in Federal Way, Washington. Despite an extensive investigation, no suspect has ever been named. Investigators have sketches of a man they believe might have been involved, but there is no name to put to the pictures.
Investigators did find some important evidence however: DNA left at the scene, possibly by Yarborough’s attacker.
Late last year, investigators gave the DNA profile (apparently the Y-DNA profile) to California-based forensic consultant Colleen Fitzpatrick (who I’ve written about before here on TGG). Fitzpatrick, it appears, compared the Y-DNA profile to publicly-available Y-DNA databases, such as Ysearch, in an attempt to identify a potential match for the profile. After identifying potential matches, Fitzpatrick could then potentially identify the surname of the Y-DNA’s donor. For example, if all Bettingers have a particular Y-DNA profile and a sample Y-DNA profile closely matches that particular Y-DNA profile, then it is likely that the parties are either closely or distantly related (on a scale of 10s or 1000s of years), and they could potentially have the same surname.
Yesterday, at Health 2.0 in San Francisco, 23andMe announced that it will be offering sequencing of exomes with 80x coverage for $999. At Exome 80x, 23andMe discusses their test:
Your exome is the 50 million DNA bases of your genome containing the information necessary to encode all your proteins. Informally, you can think of the exome as the DNA sequence of your genes.
Your entire genome is made up of your exome plus other DNA, consisting of three billion bases with repetitive sequences, sequences of unknown function, and DNA that does not code for proteins.
Note that the Exome 80x test is only available to current customers, and is determined on a “first come, first served” basis. Further, test-takers will initially only receive their raw data of 50 million DNA bases at 80x coverage, but 23andMe plans to develop new tools to take advantage of exome sequencing.
Lone Frank, a journalist and author with a Ph.D. in neurobiology, has just published her fourth book, entitled “My Beautiful Genome: Exposing Our Genetic Future, One Quirk at a Time” (available for pre-order at Amazon). A chapter of the book is available here (pdf).
Frank describes her book thusly: “This book is my very personal take on personal genomics. It chronicles my meetings and interviews with leading scientists and lays out the – somtimes [sic] disquieting – discoveries I make in my own genome.”
The book is described as follows at Amazon:
“Internationally acclaimed science writer Lone Frank swabs up her DNA to provide the first truly intimate account of the new science of consumer-led genomics. She challenges the scientists and business mavericks intent on mapping every baby’s genome, ponders the consequences of biological fortune-telling, and prods the psychologists who hope to uncover just how important our environment really is – a quest made all the more gripping as Frank considers her family’s and her own struggles with depression.”
Another interesting speaker at the meeting will be Jessica L. Roberts, J.D., an Assistant Professor of Law at the University of Houston Law Center (recent C.V. here (pdf)). Although it’s not clear what Roberts will be speaking about, her recent publications (pdf) focus on genetics and the law, including the Genetic Information Nondiscrimination Act. Kudos to Family Tree DNA for again bringing together a wide array of viewpoints and opinions at the conference.
Daniel MacArthurtweeted this morning about “Interpretome,” which is browser-based software that can be used to examine autosomal testing results from 23andMe and Lumigenix. There is also an interesting blog post about the software at the blog of Konrad J. Karczewski, one of the co-creators of the software, and one by Daniel at Genomes Unzipped.
Users load their raw data files, and then can use that information to explore their genome. There are a number of different exercises that a user can run through with their data, including health issues (diabetes, warfarin sensitivity, many other diseases, etc.), ancestry analyses, and determination of “Neanderthal SNPs,” which are SNPs that have been suggested to derive from Neanderthal ancestry (note that this science is still VERY early stage and subject to change OFTEN!).