Knome, a personal genomics company that launched within the past year, has just delivered the first genomic sequencing to customers according to a report in the MIT Technology Review.
After paying $350,000 for sequencing, customers receive their genetic sequence on an 8-gigabyte USB drive in an engraved silver box.Â The USB is encrypted and contains special genome browsing software.
For the first time in history, it is unclear how many complete human genomes have been sequenced by scientists.Â Prior to Knome, we knew exactly how many had been completed.Â Now, and probably ever after, genomes will be sequenced and analyzed without all the typical fanfare and press releases.Â Instead of just 2 or 3 genomes, there will soon be tens of genomes, then hundreds, and then thousands.
According to a 200-year-old family legend, Bettye Kearse – an African American – is the direct descendant of James Madison.Â Madison, of course, was a founding father and fourth President of the United States.Â As the story goes, he fathered a child name Jim with a slave cook named Coreen.Â For the past 4 years she and genetic genealogist Bruce Jackson of the Roots Project have tried to use DNA to prove or disprove a story passed through 5 generations of the family.
Unfortunately, Kearse and Jackson have been unable to obtain DNA samples from Madison’s descendants, stating that they have been “neither sincere nor forthcoming in this effort.”Â The president of the National Society of Madison Family Descendants, Frederick M. Smith, cited confidentiality concerns and declined to comment.
Yesterday, DNA Heritage issued a press release (reproduced below) regarding an opinion issued by the UK Intellectual Property.The opinion (available here) was the result of inquiry into whether claims 4-7 of a 2004 patent in England are valid.The patent, held by Bryan Sykes of Oxford Ancestors, was issued in 2004 and is directed at creating and using a database of Y-DNA haplotype information to examine surname relationships and determine the likelihood of common ancestry between individuals.The UK IPOâ€™s opinion holds that the claims are invalid because they are either not novel, or did not require an inventive step (i.e., they were obvious).Most intellectual property offices, such as those in the UK and the US, require that an invention at least be novel and nonobvious.
The eighth edition of the TGG Interview Series is with Max Blankfeld.Â Max is Vice-President of Marketing and Operations at Family Tree DNA, one of the largest genetic genealogy companies in the world.Â In addition, together with Bennett Greenspan, Max launched DNA Traits, a company that tests DNA for genetic diseases and inherited conditions.Â Max is a frequent contributor to genetic genealogy mailing lists and has answered many people’s questions about testing, results, an the field in general.
From the “About” page at Family Tree DNA:
“Originally from Brazil, received his BBA from FundaÃ§Ã£o Getulio Vargas, and MBA from Rice University. While his first college education was in the field of Aeronautical Engineering, he gave it up to become a foreign correspondent. After that, he started and managed several successful ventures in the area of public relations as well as consumer goods both in Brazil and the US.”
On June 9, 2008, the California Department of Public Health sent cease and desist letters to 13 companies that offer genetic testing. According to the letters, the companies are in violation of certain sections of the Business and Professions Code of California, including offering “a clinical laboratory test directly to the consumer without a physician order” since such tests “must be ordered by a physician or surgeon” (according to these officials). Copies of the letters are available here. The companies receiving letters are:
- CGC Genetics
- deCODEme Genetics
- DNA Traits
- Gene Essence
- HairDX LLC
- New Hope Medical
- Sciona Inc
- Smart Genetics
- Suracell Inc
I’m entering this discussion late, although I’ve been watching with great interest. What I’ve noticed is that much of the discussion, both in the blogosphere and the media, is confusing or ignoring the fact that there are actually two questions involved here.
For new readers of The Genetic Genealogist, 23andMe is a personal genomics company that offers a service to examine more than 600,000 SNPs throughout an individual’s genome. The information is then used to analyze ancestry (using Y-DNA and mtDNA) and to estimate propensity for disease. For much more info about 23andMe and similar companies, look under “Personal Genomics” on my Featured Articles page.
Today, 23andMe announced on their blog – The Spittoon – the winner of the company’s first ‘Win Your Genome Contest’. The contest was to describe Lilly Mendel, a publicly available but anonymous profile at 23andMe – based upon her genetic information alone. The winner was Mike Cariaso, who previously created a program that analyzes 23andMe SNP data using the growing SNPedia database.
The Quantified Self has a follow-up to last week’s post about the reproducibility of SNP testing by 23andMe and deCODEme using Illumina SNP chips (see the Quantified Self’s post and my post). In that post, it was revealed that two comparisons of the 560,000 overlapping SNP results from the two different companies had revealed differences of just 23 locations for one individual and 35 for another.
Soon after last week’s post, one of these individuals – Ann Turner – contacted The Quantified Self with new information that 4 of the SNPs on her list of 35 disagreeing results are also on the other person’s list of 23 disagreeing results (Antonio Oliveira). From Ann’s email to The Quantified Self:
Four of those (rs11149566, rs4458717, rs4660646, and rs754499) were also found in Antonio’s list. That’s more than you would expect by chance.
Megan Smolenyak Smolenyak recently wrote “I’m a Euro-Mutt!” about the results of her AncestrybyDNA EuropeanDNA 2.0 test (from DNAPrint Genomics). Megan found that the results of her test were both expected and surprising! From DNAPrint Genomics’ website:
DNAPrintÂ® Genomics’ powerful new EuropeanDNA 2.0 product, further elucidates European sub-ancestry using 1,349 European Ancestry Informative Markers (SNP AIMs). This test reports a customer’s proportional basic continental European ancestry: Southeastern Europe (SEE – Armenian, Jewish, Italian and Greek), Iberian (IB -Spanish, Portuguese), Basque (BAS – Spanish/French Pyrenees border), Continental European (CE – German, Irish, English, Netherlands, French, Swiss and some Italian) and North Eastern European (NEE – Polish, Baltic, Swedish, Norwegian, Finnish, Russian) ancestry.
Update: See the related story in GenomeWeb News (free sub. required).
Forbes.com published an article today entitled “States Crack Down On Online Gene Tests” that examines New York state’s response to the recent launch of direct-to-consumer (DTC) genetic testing services by companies such as 23andMe, deCODEme, SeqWright, and Navigenics, as well as the behind-the-scenes companies like Illumina and Affymetrix.
Unfortunately, the regulatory environment surrounding DTC genetic services is hazy at best. From the article:
“Over the last six months, New York State’s Department of Health has sent letters raising the specter of fines and jail time to six online gene-testing firms that offer consumers the ability to peer into their genome to assess their future risk of getting diseases such as cancer, heart disease and multiple sclerosis. Often, it turns out, the services offering these DNA deep-dives are doing so without the involvement of a doctor. That puts them on the wrong side of the law.”
Navigenics, a genome scanning company, officially launches their genome service today – called the “Navigenics Health Compass”, with a cocktail reception in NYC tonight at 6:00PM. Thomas Goetz of Epidemix writes an article in Wired today about some of the differences between Navigenics and other large-scale genome scanning companies.
The launch is also mentioned in an exclusive interview at Genetics and Health with Navigenics’ medical director, Dr. Michael Nierenberg. This piece is the first article in a seven article series, including the future article 6, which discusses some of my favorite things: “Privacy, insurance, GINA, and ethics.” I’ll be sure to link to that article when it comes out. The launch is also discussed over at ScienceRoll.