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.
This morning, a single tweet sent me on a 2-hour tour (more, if you count drafting this post!) of my genome.
In the tweet, Mary Carmichael expressed interest in a potential book regarding the orchid/dandelion theory recently described in a December 2009 article in The Atlantic “The Science of Success.” Before this morning, I was not familiar with either the article or the theory.
The introduction to the article, reproduced below, does a good job of summarizing the main thrust of the very long (but extremely interested and worthwhile) report:
“Most of us have genes that make us as hardy as dandelions: able to take root and survive almost anywhere. A few of us, however, are more like the orchid: fragile and fickle, but capable of blooming spectacularly if given greenhouse care. So holds a provocative new theory of genetics, which asserts that the very genes that give us the most trouble as a species, causing behaviors that are self-destructive and antisocial, also underlie humankind’s phenomenal adaptability and evolutionary success. With a bad environment and poor parenting, orchid children can end up depressed, drug-addicted, or in jail—but with the right environment and good parenting, they can grow up to be society’s most creative, successful, and happy people.”
From a Press Release issued by Family Tree DNA on August 11, 2010:
FAMILY TREE DNA’S 6th INTERNATIONAL CONFERENCE ON GENETIC GENEALOGY FOR GROUP ADMINISTRATORS TO BE HELD OCTOBER 30 & 31, 2010 IN HOUSTON
HOUSTON, (August 11, 2010) — Family Tree DNA, the world leader in genetic genealogy, will host its 6th International Conference on Genetic Genealogy on October 30-31, 2010, at the Sheraton North Houston in Houston, Texas. Each year, world renowned experts in genetics and science present cutting-edge developments and exciting new applications at this two-day educational forum which draws attendees from Family Tree DNA’s Group Administrators from around the world. This year’s conference will focus on the new Family Finder test which allows customers to find relatives across all ancestral lines.
Last week I wrote about the results of my Family Finder autosomal DNA test by Family Tree DNA (see “A Review of Family Tree DNA’s Family Finder – Part I“). The Family Finder test uses a whole-genome SNP scan to find stretches of DNA shared by two individuals, thus identifying your genetic cousins (and will soon include the Population Finder analysis of admixture percentages). I currently have over 33 genetic cousins in Family Finder, and I’m working with them to identify our common ancestor(s).
The Affymetrix microarray chip used by FTDNA includes over 500,000 pairs of SNPs located on the X chromosome and the autosomes (no Y chromosome SNPs). Via SNPedia:
FamilyTreeDNA uses an Affymetrix Axiom CEU microarray chip with 3,269 SNPs removed (563,800 SNPs reported) for autosomal and X (but not Y or mitochondrial) ancestry testing for $289. Other sources have cited 548011 snps. This platform tests 1871 of the 12442 snps in SNPedia.
Mary Carmichael, a science editor for Newsweek, is in the midst of a week-long dilemma. This Friday, after reading a series of articles written by members of the DTC genetic testing community, she will decide whether she should purchase a genome-wide SNP analysis. Although the decision might be a simple one for some, in light of the recent critique of DTC genetic testing in the media, in the literature, and by the government, it is certainly understandable that Mary is looking for further insight into her decision.
Today, Mary is asking “What Can I Learn From At-Home DNA Tests?” and has gathered answers to her question from a wide variety of writers and scientists, including myself. Since the Newsweek site only has space for a brief introduction to each topic, this post is meant to be a more in-depth answer what Mary could learn about her ancestry from a DTC test.
Since late 2007, several “direct-to-consumer” or “DTC” genetic testing products have entered the marketplace, many of which offered some degree of autosomal ancestry analysis (including 23andMe, deCODEme, and Pathway Genomics, among others).
In early 2010, genetic ancestry testing company Family Tree DNA announced that it would begin offering a new genetic genealogy product (see “Announcing Family Finder – An Autosomal Test From Family Tree DNA”). The new product, called “Family Finder,” is one of only a very few autosomal genetic genealogy tests available to consumers.
The Family Finder test uses an Affymetrix microarray chip that includes over 500,000 pairs of locations called single nucleotide polymorphisms (SNPs) in your autosomal DNA. Once the SNPs are analyzed, FTDNA detects linked blocks of DNA that indicate a common ancestor. The number and size of these linked blocks is used to determine how recently or closely two people are related. From the Family Finder FAQ page:
In honor of mother’s day, I’m reposting a portion of an entry from March 16, 2009 (“Visualizing Your Genetic Genealogy“).Â It also follows a SNGF from Randy at Genea-Musings called “Matrilineal Line.”
In my genealogical research, I have sometimes found myself missing the trees by focusing on the forest.Â I think it happens to many genealogists â€“ we get caught up in the research, the dates, the places, and we forget that there was so much more to people than their vital statistics.
This can happen to genetic genealogists as well.Â The connection between the results of a DNA test and the individuals in our tree can be easy to forget and difficult to visualize.Â Take the results of an mtDNA test, for example.Â The results are obtained from a tiny piece of DNA that has traveled thousands of years (and often thousands of miles) through hundreds of individuals to end up in your cheek cells and on the tip of a swab.Â Everyoneâ€™s mtDNA is the product of an amazingly rich story that has largely been lost to history.
Late last fall, Family Tree Magazine requested nominations for the best genealogy blogs, and then opened voting for the nominated list.Â Yesterday, they announced the winners of the voting.Â Diane Haddad wrote about the announcement on the Genealogy Insider blog, and Maureen Taylor wrote the article that will appear in the May issue of Family Tree Magazine: “Fab Forty.”
I am very pleased and honored to announce that TGG was selected as one of the 40 Best Genealogy Blogs, in the category of genetic genealogy. I would like to thank everyone who nominated and voted for me.Â I have been very fortunate over the last few years to interact with a fascinating array of readers, and I am thankful for every one of them.
When I started blogging in February 2007 (I just recently counted my third anniversary of TGG!), there were very few blogs in the genetic genealogy space.Â Today there are a number of interesting and well-written genetic genealogy blogs.Â See my recent round-up at “10 Great Blogs for Genetic Genealogists.“Â Each of these blogs is well worth adding to your reading list.
In October 2008, I reviewed an article by Dr. Alondra Nelson in the journal Social Studies of Science entitled â€œBio Science: Genetic Genealogy Testing and the Pursuit of African Ancestryâ€ (Social Studies of Science 2008 38: 759-783).Â The article was about the complex interpretation of the results of genetic genealogy testing by African-Americans and black British.Â Dr. Nelson is Associate Professor of Sociology at Columbia University in NY.
On Friday, an article by Dr. Nelson appeared in The Chronicle of Higher Education entitled “Henry Louis Gates’s Extended Family,” which is an introduction and review of the current PBS documentary miniseries Faces of America. Regarding the genetic testing aspect of the show, Nelson writes: