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.”
Family Tree DNA has announced the 7th Genetic Genealogy Conference for Family Tree DNA Group Administrators, to be held in Houston, Texas on November 5th and 6th, 2011.
Featured speakers at the meeting include the following:
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 MacArthur tweeted 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!).
Helen Marley Johnson, my great-grandmother, was born to unidentified parents on March 3, 1889, in Oswego County, New York. Although I didn’t really know Marley, I remember meeting her when I was very, very young, just before she died in 1983.
Marley lived in Oswego and Jefferson counties for all her long life. She was married twice, had two children, and today has numerous descendants located throughout the United States and the world. However, by the time Marley was 13 years old, she had been adopted by at least three different families, eventually marrying into the last family that adopted her.
Since I began my genealogical research more than 20 years ago, I’ve worked to find the parents of Marley Johnson, without much success. I have a plethora of data about the entire remainder of her life, but almost nothing about her ancestry. For example, although I’ve found her birth certificate, it lists her mother as Minerva Johnson (a name that may or may not be real, and which I’ve found nothing on) and lists her father as “unknown.”
DNA Heritage, a popular genetic genealogy company intiated in 2002, has ceased operations (although pending orders will be fulfilled). The company’s website announced today that it is in the process of transferring their database and domains to Family Tree DNA.
Family Tree DNA, meanwhile, has announced that it records in the DNA Heritage database will only be placed into FTDNA’s database if the owner agrees to opt-in. FTDNA has a series of FAQs related to the transfer available here.
The full text of the announcement is below:
As of April 19 2011, DNA Heritage has ceased its operations and is in the process of transferring the domains DNAHeritage.com and Ybase.org to Family Tree DNA.
All the tests in progress will be processed by our current lab and the results will be delivered to our customers.
Robert Estes of DNAeXplain announces the discovery of a previously-undiscovered Native American haplogroup. Up to the current point, research had found only two Y-DNA haplogroups in the Native peoples of North and South America – C3b and Q1a3a (aka Q1a3a1). However, new research described in the accompanying paper (here (pdf)) uncovers a third haplogroup found in Native peoples.
From the paper:
“For the past decade, since the advent of genetic genealogy, it has been accepted that subgroups of haplogroup C and Q were indicative of Native American ancestry. Specifically, subgroups C3b and Q1a3a, alone, are found among the Native peoples of North and South America. Other subgroups of haplogroup C and Q are found elsewhere in the world, not in North or South American, and conversely, C3b and Q1a3a are not found in other locations in the world. This makes it very easy to determine if your direct paternal ancestor was, or was not, Native American. Or so it seemed.”
On Sunday, the Syracuse Post-Standard featured a story about personalized genomics and medicine entitled “Future medicine: Patients with genetic codes will seek personalized care from doctors” by Amber Smith. The article discusses several of the recent advances in the field of genomics, including the many DTC (“direct-to-consumer”) tests available to consumers, and what that will mean for medical care now and in the future. Smith writes:
“Interest in personal DNA analysis is growing, as the number of genomic retailers multiply. Navigenics is the first to obtain a license in New York state, last December, and other companies are going through the approval process now. A course at Syracuse’s Upstate Medical University prepares doctors for the new medical world, where patients arrive for appointments not just with symptoms and complaints, but with a list of personal genetic variants — and concerns about what it means.”
PLEASE NOTE: This post is a parody, and has two purposes: (1) simply for the sake of light-hearted fun; and (2) to provoke conversation with geneticists and researchers in this field (not that it will do so anyway!). So many of the recent studies about consumer reactions and/or guidelines for DTC testing have been released without any data at all, or have been studies involving a handful of test-takers. I believe that further studies are absolutely vital, but they should be an in-depth analysis rather than the curt and superficial write-ups that have been done to date. Rather than contribute to solving issues related to DTC testing, these incomplete studies add to the confusion surrounding the field.
So, ASHG geneticists, if you can see the humor in things and are willing to accept challenges to your way of thinking, read the post below! Otherwise, click here: http://www.ashg.org.