So by now you’ve no doubt heard that on November 22, 2013, the Direct-to-Consumer genetics testing company 23andMe received a uncharacteristically biting letter from the Food and Drug Administration (“FDA”), a federal agency that protects public health by monitoring and regulating various products such as food, medicine, and supplements.
In the letter, the FDA expresses its belief that the 23andMe Personal Genome Service (“PGS”) is a medical product because “it is intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body.” Accordingly, the FDA concludes, the PGS requires “premarket approval or de novo classification” by the FDA.
The 9th International Genetic Genealogy Conference for Administrators is currently being held by Family Tree DNA in Houston, Texas. As they try to do every year, there have been several buzz-worthy announcements already.
Family Tree DNA has announced the new Big Y test:
Here are some of the basics about the new Big Y test:
- 10 million bp sequenced
- ~25,000 SNPs
- Cost = $495 until December 1, 2013, then $695.
The “Y-DNA SNP testing chart” page at the ISOGG wiki has already been updated to reflect the Big Y test.
For more about the test, see these great posts:
“9th Annual International Conference on Genetic Genealogy – Day 1
” – at Ancestor Central by Jennifer Zinck
“The new Big Y Test from Family Tree DNA
Understanding the complexities of autosomal DNA can be very challenging for newbies.
However, there are a few basic tenets that I believe can help these newbies. These tenets are essentially tools that newbies can use to analyze an autosomal DNA problem for themselves.
For example, here are the two very basic tenets that I typically introduce in my autosomal DNA lectures especially for the newbies:
- You only have to go back about 5 generations to start losing ancestors from your Genetic Family Tree.
So many of the issues that newbies run into can be resolved or prevented through understanding of these concepts.
The Coop Lab
The lab of Graham Coop, an associate professor in the Department of Evolution and Ecology at UC Davis, maintains a blog where they often discuss genetics. Today they published an interesting blog post entitled “How much of your genome do you inherit from a particular ancestor? In the post, they perform a handful of different analyses using data they had for one generation of transmissions which was compounded over multiple generations.
23andMe today launched the African Ancestry Project, which has been in the works for some time now. Participants in this project will receive 1 free 23andMe kit.
The project aims to shed light on the health and ancestry of people with African ancestry, an underrepresented group in almost every database (both genealogical and health-related.
Participants in the African Ancestry Project will receive 1 free kit per family, if they are eligible. Eligible individuals must:
- Have four (4) grandparents from the same sub-Saharan African country;
- Be at least 18 years of age;
- Have Internet access, be willing to take an online survey about ancestry and provide a saliva sample;
- Live in the United States in a state that allows 23andMe shipping. (i.e., not Maryland)
In 1991, German tourists in the Alps discovered the mummified remains of a man who died approximately 5,000 years ago. Named Ötzi, the remains have been studied extensively and have revealed a wealth of information about life in this region.
Of note to genetic genealogists, Ötzi’s DNA has also been the subject of extensive analysis. In February 2012, sequencing of Ötzi’s full genome was announced (see here and here) which revealed, among other things, that the Iceman probably had brown eyes, belonged to blood group O, and was lactose intolerant. He may also have had Lyme disease, as the genome of the infectious agent Borrelia burgdorferi was also identified in the sequencing effort.
Ötzi’s Y-DNA belongs to a subclade of Haplogroup G defined by the SNPs M201, P287, P15, L223 and L91 (G-L91). As far as I know, he has not yet been typed for any of the subclades downstreaming from G-L91. More information can be found at the G-L91 page of the Haplogroup G Project, and elsewhere online.
23andMe and co-founder Anne Wojcicki are featured in the cover story of the November issue of Fast Company entitled “Anne Wojcicki Is The Most Daring CEO In America.”
Accompanying the cover story are a number of different online articles, including the following:
Article #1 – “Inside 23andMe Founder Anne Wojcicki’s $99 DNA Revolution” by Elizabeth Murphy (not her real name – it was changed to protect the identity of her adopted daughter, who 23andMe testing revealed has an extremely high propensity for Alzheimer’s disease)
Article #2 – “Behind the Scenes of the Ad Campaign for 23andMe’s $99 DNA Test” – a brief look at how 23andMe is trying to recruit 1 million new customers. The article features a handful of tv spots, and reveals that many of the actors took a 23andMe test.
There has been a great deal of coverage this week of the new patent issued to genetic testing company 23andMe. U.S. Pat No. 8,543,339 is entitled “Gamete donor selection based on genetic calculations” and is directed to methods for predicting traits for a child based on the DNA of candidate parents, and selecting a preferred donor based at least in part on the prediction.
Some of the coverage (including an editorial in Genetics in Medicine) has suggested that the methods are “hugely ethically controversial” and “‘GATTICA’-like,” and could lead to a “design-your-own-baby DNA test” and “designer babies.” Another popular genetic genealogy blogger, Roberta Estes, also addressed the patent on her blog earlier this week (“23andMe Patents Technology for Designer Babies”).
Published today at MATTER is “Uprooted,” an in-depth look at genetic genealogy and DNA testing. The article contains numerous quotes from several names you’ll recognize, including CeCe Moore and me. Much of the story focuses on genealogist Cheryl Whittle and her roller-coaster quest to find her biological roots using DNA testing. From the preview of the roughly 10,000 word article:
“In Issue 11 of MATTER, award-winning writer Virginia Hughes tells Cheryl’s story, and describes how the twin revolutions of the internet and DNA testing have turned genealogy into a privacy minefield. After all, your genetic code is as personal as it gets — yet thanks to the web, you are no longer the only person who gets to control it.”
Imagine the following scenario:
- You’ve just received an email that your DNA test results are ready, and you log into your account. The welcome screen guides you through a tutorial and presents you with several tabs to choose from.
- You click the first tab which reads “Your Ancestors.” The page shares information about 35 of your ancestors from the past 300 years, identified because you have inherited some of their DNA, although you have not yet provided any genealogical information to the testing company. Each of these ancestors has their own profile page complete with dates, family members, and other information such as computer-generated images and a health report which are based on a genome reconstructed entirely from modern-day descendants.
- You then click on the tab that reads “Your Reverse Family Tree,” which contains a partial family tree that has been constructed by the testing company. Based on extensive and well-documented genealogies, there is likely only one way in which the 35 identified ancestors can fit together in a tree (although other possible combinations are provided along with statistical probabilities). There are a considerable gaps, especially on your recent immigrant grandmother’s line, but the tree appears to be entirely consistent with your many years of traditional genealogical research. Well, except for the family of John G. Rogers from the 1850’s; you’d copied that off the Internet years ago and never confirmed for yourself anyway.
- Next you click on “Your Cousins,” which contains numerous close and distant relatives in the database. Some of these cousins are Genetic Cousins (with whom you share DNA), and some of whom are Genealogical Cousins (with whom you share a genealogical relationship based on your generated family tree). There are numerous 2nd and 3rd cousins matches. There are also pending offers to join several citizen science and family research groups, including the “Descendants of Calvin Lane of Old Lyme, Connecticut” group, the “Family of German Immigrant Johann Kehl” group and the “Relatives of the American Franklin Family” group, each of which has a slightly different research goal.
- Lastly, you click on “Your Memberships,” which offers – among other things – a discount membership to the Daughters of the American Revolution based on your predicted descendancy from Revolutionary War veteran Jedidiah Johnson (although you don’t happen to share any of Jedidiah Johnson’s DNA, he’s in your generated family tree with an extremely high probability (95%)).
While the scenario I described above may sound like science fiction, it’s the inevitable future of genetic genealogy and is much, much closer than you might think (okay, maybe not the DAR offer!).
Next month at the American Society of Human Genetics 2013 meeting, researchers from AncestryDNA will present their work detailing the reconstruction of portions of the genomes of an 18th-century couple using detailed genealogical information and Identity-by-Descent (“IBD”) DNA segments from several hundred descendants of the couple in the AncestryDNA database. In other words, researchers identified several hundred descendants of a certain couple living in the 1700s and then used the DNA shared by those descendants to recreate as much of the couples’ genomes as possible.
In addition to the information you received from 23andMe, Family Tree DNA, or AncestryDNA about your ancestry, there is a wealth of additional information still within in your DNA. Below (in alphabetical order) are some of the most popular and well-known tools for wringing every last bit of information out of your raw data, and maximizing the cost of your DNA test. Please note that I have not used or verified all of these apps; always use caution when providing information to an unknown recipient.
Apps, Extensions, Programs, and Websites:
- 23++ (http://23pp.david-web.co.uk/about/) (FREE) – An extension for the Google Chrome web browser that adds additional functionality to the 23andMe website. The extension especially adds a number of features to Relative Finder.
- 529andYou (http://goo.gl/FQSiwW) (FREE) – An extension for the Google Chrome web browser that works with 23andMe’s Family Inheritance: Advanced tool (found under Ancestry Labs or, in the new beta website design, under My Results, Ancestry Tools) to collect information about DNA matches. The information, which includes shared segment data, is stored in a local database on your computer.
) (FREE) – A comprehesive suite of tools for analyzing raw data, including searching for Runs of Homozygosity (ROHs), searching for shared DNA in two files, and several advanced phasing tools.
) (FREE) – A suite of tools for 23andMe and Family Tree DNA customers. Users can download their matches, shared segments, and other data into a handy spreadsheet for further analysis.