The Genetic Genealogist

23andMe and mondoBIOTECH announced at Davos (the World Economic Forum in Switzerland) today that they will work together to further the study of rare diseases.  According to the press release (below), mondoBIOTECH will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Service™.  Researchers will use the information collected to learn more about the potential causes of these rare diseases.

CNBC Video:

Linda Avey appeared on CNBC this morning to discuss the company and the partnership – see “It’s All in the Genes.”

The Press Release:

Davos, Switzerland – January 28^th 2009 – 23andMe, Inc., an industry leader in personal genetics, and Mondobiotech AG, a Swiss research company dedicated to the development of treatments for rare diseases, today announced at the World Economic Forum in Davos, Switzerland, that they are collaborating to advance research of rare diseases.

The announcement marks the return of the companies to the World Economic Forum, where they both were recognized as Technology Pioneers in 2008. 23andMe and Mondobiotech will work together to facilitate research of the genetic bases of rare and potentially fatal diseases, such as Pulmonary Arterial Hypertension, Sarcoidosis, and Pulmonary Fibrosis, the genetics of which are poorly understood. Mondobiotech will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Serviceâ„¢. Researchers then will be able to study the genetic information collected, along with any phenotypic information provided, in clinical trials, to understand potential causes of these diseases. 23andMe will coordinate genome-wide association studies for Mondobiotech affiliates using its research infrastructure and bioinformatics expertise.

The Illumina (NASDAQ: ILMN) DNA Analysis technology used by 23andMe is the world’s leading technology for genome-wide association studies and has the unique capability to include custom markers. This feature enabled 23andMe to select SNPs (single nucleotide polymorphisms), or variants that provide coverage of genes associated with drug response, information that is proving to be critical for the development of personalized medicine. In addition to having over half a million markers available for disease research, these “pharmacogenetic” indicators included in the 23andMe dataset could provide invaluable information for identifying treatment protocols.

“We are eager to take an active role in advancing research of rare genetic disorders,” said Linda Avey, co-founder of 23andMe. “By partnering with our colleagues at Mondobiotech, a company acutely focused in this area, we’ll be able to leverage the genetics and bioinformatics expertise of our science team toward better understanding of these often devastating conditions.”

“For years, we have been working on behalf of neglected and underserved disease communities to help improve the lives of people with rare and fatal diseases,” said Fabio Cavalli, Chief Executive Officer of Mondobiotech. “When we met the founders of 23andMe last year at Davos and saw what they were doing with genetics, we knew that a collaboration between the two companies could go a long way towards understanding the causes of the diseases we have been researching.”

About 23andMe

23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company’s Personal Genome Service™ enables individuals to gain deeper insights into their ancestry and inherited traits. 23andMe, Inc., was founded by Linda Avey and Anne Wojcicki in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. Its Series A investors include Genentech, Inc., Google Inc. (NASDAQ: GOOG) and New Enterprise Associates.

More information is available at www.23andme.com.
About Mondobiotech

Mondobiotech is the Swiss open source biotech aiming to improve the health of patients affected by rare diseases. Mondobiotech currently has a product pipeline of more than 300 peptides as treatment options for more than 600 rare diseases. The company licenses out their products to companies, foundations and private persons who are interested in improving the status of affected patients. The company has obtained 6 Orphan Medical Product Designations in Europe and in the US and licensed 7 products to BiogenIdec (NASDAQ: BIIB), InterMune (ITMN), United Therapeutics/LungRx (UTHR). Mondobiotech was selected Technology Pioneer 2008 by the World Economic Forum.

For more details, please visit www.mondobiotech.com.

I’ve long been interested in the success and long-term outlook of the genealogy market.  Although altruistic genealogists have done immense amounts of work to transcribe and put records online, one of the strongest forces behind the digitization of genealogical records has been private profit-driven organizations.  And these organizations, of course, rely on the viability of the market.

FTM Media Kit

Randy Seaver at Genea-Musings recently linked to Family Tree Magazine’s 46 page 2009 Media Kit, which contains extensive information about the genealogy market and the Family Tree Magazine audience.  The report is filled with statistics about all facets of genealogy and genealogists, and the author(s) include links to all their primary information.

Genetic Genealogy Market

The report includes the conclusion that 651,600 people have taken a genetic genealogy test, based on my research (see “How Big is the Genetic Genealogy Market?“) from November 2007.  I think that the final number is bigger as of January 2009, probably closer to 750,000-800,000.  Unfortunately, the actual number has become increasingly more difficult to update because genetic genealogy companies are keeping their numbers private (which is probably understandable as the market has changed so much in the past year).  Additionally, I’m not certain how much the 23andMe and deCODEme customers increase my results.

For anyone interested in the genealogy market in general, I highly recommend reading the Media Kit.

An international team of researchers have concluded that humans entered the Americas from Asia along at least two different paths.  By studying two rare mtDNA haplogroups found in Native Americans – D4h3 and X2a – the researchers conclude that D4h3 spread into the Americans along the Pacific coast while X2a entered through the ice-free corridor between the Laurentide and Cordilleran ice sheets.

From the Press Release:  “Six major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,” said first author Ugo Perego, director of operations at SMGF. “So we chose to analyze two rare genetic groups and eliminate that ‘statistical background noise.’ In this way, we found patterns that correspond to two separate migration routes.”

To conduct the study, the scientists searched the Sorenson database for Native American mtDNA and then sequenced the entire mtDNA genome of some of the samples.

There is more coverage at Dienekes’ Anthropology Blog and The Spittoon.

The entire Press Release:

SALT LAKE CITY and PAVIA, Italy (Jan. 8, 2009)—Genetic researchers from the Sorenson Molecular Genealogy Foundation (SMGF) in Salt Lake City working with scientists from the University of Pavia in Italy today published a study shedding new light on the puzzling question of why Native Americans exhibited such extraordinary linguistic and cultural diversity when the first Europeans arrived in 1492.

Featured on the cover of Current Biology journal, the striking finding by an international team of researchers challenges the traditional idea that the first groups of humans to colonize the Americas came from a single population source, which would imply one language family, technology and culture, when they crossed an Ice Age land bridge connected to Asia 15-17,000 years ago.

By analyzing for the first time at the highest level of molecular resolution two rare lineages of the maternally inherited mitochondrial DNA (mtDNA) from modern Native Americans, geneticists identified separate migratory paths that marked the initial stages of human colonization. Traveling concurrently, one genetic group of Paleo-Indians followed the Pacific coastline route and arrived at the southern tip of South America, while the second group followed an ice-free corridor east of the Rocky Mountains and settled in the Great Plains and Great Lakes regions.

The evidence that separate groups of people with distinctive genetic roots entered the Americas independently at the same time strongly implies linguistic and cultural differences between them. “The origin of the first Americans is very controversial to archaeologists and even more so to linguists,” said study corresponding author Professor Antonio Torroni, heading the University of Pavia group. “Our genetic study reveals a scenario in which more than one language family could have arrived in the Americas with the earliest Paleo-Indians.” Torroni is a world-renowned population geneticist in the field of mtDNA research and the first to identify the major genetic groups to which 95 percent of Native Americans belong.

In March 2008, the same research team published a study that was the first to compile all known Native American mtDNA sequences into a single genetic tree with branches dated. Results showed almost all modern Native Americans descended from six ancestral founding mothers. They used the built-in molecular clock of DNA to establish the time the first humans moved into the Western Hemisphere, finding a narrow window between 15-17,000 years ago.

For both studies researchers combed the Sorenson database—the world’s largest collection of correlated genetic genealogy information containing DNA collected in more than 170 countries—for mtDNA belonging to Native American lineages. Then, using techniques developed at the University of Pavia, the samples were analyzed using a complete-mtDNA genome approach for the first time.

“Six major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,” said first author Ugo Perego, director of operations at SMGF. “So we chose to analyze two rare genetic groups and eliminate that ‘statistical background noise.’ In this way, we found patterns that correspond to two separate migration routes.”

Today’s study analyzed two rare genetic groups. D4h3 spread into the Americas along the Pacific coast and, at the same time, X2a migrated inland through an ice-free corridor between the Cordilleran and the Laurentide glaciers. The D4h3 group is rare today in North America, while X2a is found exclusively in the U.S. and Canada, mainly in the Great Lakes and Great Plains regions. The six most common Native American mtDNA lineages are A2, B2, C1b, C1c, C1d and D1.

“This study does not end the debate,” said co-author Dr. Alessandro Achilli, researcher at the University of Pavia and assistant professor at the University of Perugia, “but the implications of our findings are significant. The distinct industries and technologies observed in North American archeological sites might be related to separate genetic groups using different migratory routes rather than being the result of in situ differentiation. Future research will dissect common pan-American lineages into sub-branches, and we do expect distribution of some of these subgroups will parallel that of D4h3 and X2a.”

The study, “Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare MtDNA Haplogroups,” was published online today by Current Biology and will be the cover story for the print version on Jan. 13, 2009.

Note: there are some great X chromosome inheritance charts below – if you are unable to see them, be sure to click through to the original post!

Most genetic genealogists have sent away their cheek swabs to learn about their mitochondrial DNA or their Y-DNA lines.  Others have explored their autosomal DNA for ancestral information, a field that is growing quickly and will undergo rapid changes as the price of sequencing continues to fall.

Now genetic genealogists are beginning to discover the ancestral information locked away in the X chromosome.  Indeed, X chromosome tests have been offered by companies such as Family Tree DNA for a number of years.  Armed with some of this information as well as the advent of SNP chip information from 23andMe and deCODEme,  genetic genealogists are making new discoveries in this very young arena.

Inheritance of the X Chromosome

To help you understand some of the X chromosome data, I’ve prepared this short summary regarding the unique and interesting inheritance of the X chromosome.  Males, of course, have one Y chromosome from their father and one X chromosome from their mother.  Females have two X chromosomes, one from each parent.

The charts below trace back the inheritance of the X chromosome through the level of GGGGG-grandparents.  At that generation, a person has 128 ancestors.  Of these 128 ancestors, a male will have 21 people who potentially contributed to their single X chromosome (8 males and 13 females).  A female will have 34 potential contributors to her two X chromosomes (13 males and 21 females).  Note that I say “POTENTIAL” contributors because it is unlikely that all these ancestors are equally represented in the X chromosome – it is more likely that some ancestors are completely missing while others are well-represented.

What I found to be particularly interesting is that the number of X contributors at each generation follows the Fibonacci sequence of 1, 2, 3, 5, 8, 13, 21, 34, 55, 89, 144, 233… (HT: John Chandler).  A male will start with 1 X contributor and then follows through the sequence, while a female will start with 2 X contributors and follow through the sequence (although the numbers will be different if there is recent overlap in your family tree, as there is in mine).

Male Inheritance (click to enlarge) – Male contributors are in blue and female contributors are in pink:

Female Inheritance (Click to enlarge)  – Male contributors are in blue and female contributors are in pink:

More Information

You can find more information about recent developments in the X chromosome field at the following:

• X chromosome applications by Kathy Johnston (registration required)
• Finding X Eve – Block 3 by David Faux
• X chromosome resource list by David Faux
• X chromosome block 3 by David Faux
• Matching X chromosome block by Kathy Johnston
• Summary 1 and Summary 2 and Summary 3 by David Faux

Conclusion

It is important to keep in mind that this investigation into the X chromosome is VERY new and thus can be confusing or unclear.  While I don’t recommend jumping into this area if you aren’t ready for the many changes, reversals, or dead-ends that will undoubtedly appear, I would encourage anyone who is interested in assisting these researchers contribute their own information if you feel completely comfortable doing so.

It will be very interesting to see how this field develops over the next few years.

P.S. – Feel free to use these charts, all I ask is that I be credited with a link to the blog.

UPDATE: Ann Turner has a text file of the Ahnentafel numbers of those ancestors who potentially contributed to the X chromosome, through 10 generations.  If you are a male, be sure to start the ahnentafel chart with your mother.

Last week I had the opportunity to attend a lecture by Spencer Wells, director of the Genographic Project from National Geographic and IBM.

The talk was a Syracuse Symposium event, and the first big event ever to be held in Syracuse University’s new $110 million Life Sciences Center.  I thought it was fitting that the first event to celebrate the future of the new life sciences building was a lecture that examined the collective genetic journey of mankind.

Dr. Wells began by giving the audience a very brief introduction about DNA and genetic genealogy.  He included a great quote that “The question of origin is actually a question about genealogy.”  For those that are not familiar with the Genographic Project, it was launched in 2005 and includes three primary missions:

1. Global DNA sampling from indigenous and traditional cultures which retain a geographic link with their current location;
2. Public participation; and
3. The legacy fund, which is funded by the public participation aspect of the project and aims to “empower indigenous and traditional peoples by supporting locally-led efforts.”

Dr. Wells is a great speaker and the hour-long lecture went by extremely quickly.  Some of the more interesting information he shared is not readily available on the Genographic Project’s website:

• According to current projections, the project is about halfway finished and is predicted to end in 2011.
• So far, 41,000 samples have been collected from indigenous populations, and 270,000 kits have been purchased by public participants in 130 countries (currently at about 800 kits ordered per week!).
• The indigenous DNA samples are stored for future analysis – this will undoubtedly be an irreplaceable asset as indigenous populations continue to decline (although it does raise issues of informed consent; do indigenous people really understand the information?).
• Eventually, the Genographic Project’s database will be searchable.

Valuable Research

He also highlighted the previous papers that resulted in party from the Genographic Project, including:

• The Genographic Project Public Participation Mitochondrial DNA Database
• The Dawn of Human Matrilineal Diversity
• Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events
• Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean

A new paper, soon to be released, will examine the genetic ancestry of the Toubou people indigenous to northern Chad in Saharan Africa.  The Toubou people have a rich and interesting history, but their actual genetic roots are unclear.  According to Sougoui, a Toubou:

“The Genographic Project is a great opportunity for us, the Toubou, because we are a people who are extremely interested in our origins… According to Toubou legend, we are a people who came from different places. This is a question that we continually talk about. We are anxiously waiting for the results of this study to answer this question for us. It is important for us as Toubou to know where we came from, how we got separated from other peoples, and how we actually fit into the world God created.”

Dr. Wells showed a short clip of a new documentary that is being made about the Genographic Project.  In the clip, we were shown the challenges of collecting DNA from the Toubou; looks like it will be another very interesting documentary.  See more about the Toubou project here and here.

The Q&A Session

During the Q&A session, someone asked what regions are missing from the database.  Perhaps unsurprisingly, the answer was the Americas and Australia.  Apparently the Project has had a very difficult time getting permission to take samples from these populations.

Many of the questions reflected the fact that many people are confused about the inheritance of Y-DNA and mtDNA.  Half the them were about whether a child or a sibling would have the same or different Y-DNA or mtDNA.

Conclusion

Dr. Wells is a great lecturer, and I highly recommend watching him speak if you are ever able to do so.  I learned a great deal about the Genographic Project, and I look forward to the information that will continue to be released from this valuable endeavor.

Image via Wikipedia

New research from Mark Jobling’s lab at the University of Leicester suggests that Y-DNA can be used to determine a male’s surname.

I know, I know, this is obvious to anyone who is familiar with genetic genealogy.  Just check out the many instances of this type of determination at ISOGG’s Success Stories website, for example.  However, as you’ll see below, this research has resulted in some new and interesting information.

Method

Dr. Turi King, who conducted the research, recruited over 2,500 men with roughly 500 different surnames to submit Y-DNA samples.  The sample set included a group not sharing surnames as well as sets of men (between 2 and 180) who shared a surname (including recognized variants).  She then typed 9 SNPs and 17 STRs.  There’s much more information about this research at the Jobling lab’s website regarding this project.

Results

Although this research may seem obvious, what makes it interesting are the actual statistics.  According to Dr. King’s research, there is a 24% chance that two men who share the same surname share a common ancestor through that name, and this increases to nearly 50% if the surname they share is rare. Keep in mind, of course, that this study was conducted solely in the U.K., so it is unclear how it applies to other countries.  From the press release:

“Dr King then went on to look at 40 surnames in depth by recruiting many different men all bearing the same surname, making sure that she excluded known relatives. Surnames such as Attenborough and Swindlehurst showed that over 70% of the men shared the same or near identical Y chromosome types whereas surnames such as Revis, Wadsworth and Jefferson show more than one group of men sharing common ancestry but unrelated to other groups.”

Implications

The implications of Dr. King’s research have strong significance for genetic genealogists, but the press release focused only on forensic science, stating that “the fact that such a strong link exists between surname and Y chromosome type has a potential use in forensic science, since it suggests that, given large databases of names and Y chromosome profiles, surname prediction from DNA alone may be feasible.”

For more analysis, see Anthropology.net.

The Personal Genome Project (PGP) was established to analyze and publicly share the genomes and personal information of up to 100,000 volunteers in order to advance understanding of “genetic and environmental contributions to human traits and to improve our ability to diagnose, treat, and prevent illness.”  In the first phase of the PGP, ten volunteers (the “First 10″ – see information about the First 10 here on my blog and at the PGP website) have had their DNA analyzed and have given their personal information.

Last month, George Church, the PGP’s principal investigator, reported that the project expected to publish data about the First 10 on its website in mid- to late October.  Church might have meant genotype (i.e. sequencing) information, since some information about phenotype, health history, and medication has already been posted on the PGP website.  There is information about each of the 10 participants, although there is currently no active link to their genetic information:

1. George Church
2. John Halamka
3. Esther Dyson
4. Misha Angrist
5. Kirk M. Maxey
6. Stan Lapidus
7. Keith Batchelder
8. Steven Pinker
9. Rosalynn Gill
10. James Sherley

Note that the First 10 are listed as “Participant #1″, “#2″, etc.  I debated about whether or not to attempt to identify them based on sex, ancestry, and date of birth, but since it was so simple to do that I decided to assign a name to the Participant number (I’m pretty sure I got them all right, depending on the quality of the source information I was able to find online).  Indeed, the PGP has clearly stated over and over that anonymity cannot be guaranteed for participants.  Additionally, I’ve always felt that one of the goals of the first phase of the PGP was to educate people about the effects of making your genomic sequencing information and health information freely available online.  Some would argue that the effects are completely or mostly dangerous, while others would argue that the effects are completely or mostly benign.  The PGP might help examine some of these questions.

There’s more information about the PGP in a recent Wired article.  HT: twitter from Jason Bobe of The Personal Genome.

Last week, Randy Seaver of Genea-Musings posed a genetic genealogy question on his blog.  I posted a possible solution in the comments there, but I am asked this question regularly and thought I would discuss it here.

At a recent meeting that Randy attended, a woman in the audience asked the speaker:

“I don’t know who my father is. He and my mother had relations in Naples, Italy back in the 1950′s and I was born. I have no siblings. My mother did not tell me his name and there is no father’s name on my birth certificate. Can DNA research help me?”

This particular situation is exceptionally challenging.  If the child had been a boy, he would have his father’s Y-DNA and a decent chance at identifying his father’s surname (and thus could perhaps further elucidate his actual identity with the combination of DNA research and traditional genealogical research).  If the unknown parent had been the mother, the daughter would possess the unknown parent’s mtDNA and a remote but possible chance of finding an mtDNA match and using traditional genealogical techniques to identify the mother.

The Question

Given this situation, Randy asked:

“Are there any other opportunities based on the whole genome of this woman, comparing the genome of her mother (assuming a sample is available), and determining the parts of her DNA she inherited from her father, then finding a match somehow with genomes of persons in Italy? That’s a big order, but it might be possible at some time in the future. Perhaps there are sperm bank or criminal blood samples from the time period in Naples that could be compared. Is that too far-fetched? Even for 20 years from now?”

My response

I agree that AS OF TODAY, there is little to no hope that the woman will discover the identity of her father.  However, people almost always believe that this mystery will never be resolved because there is no Y-DNA or mtDNA solution.  Of course, as we all know, the child inherited 50% of her genome from her father. It is my hypothesis that somewhere in that DNA is a clue to her father’s ancestry which can ultimately be used to identify her father.

How will autosomal (non-sex chromosome) DNA reveal her father’s identity?  As genomic sequencing becomes cheaper and cheaper, it will be possible to sequence an entire genome relatively cheap (first under $1,000, then eventually under $100).  With this technology, genealogical and medical organizations will use vast autosomal DNA and family chart databases to trace genes and mutations through genealogies.  SMGF, for example, is already collecting both DNA and family charts, and is set to release the Sorenson Autosomal Database in the near future.

Additionally, earlier this year a deadly mutation that leads to colon cancer was traced to an English couple that emigrated to the United States in 1630, almost 400 years ago.  Although not everyone with this mutation is descended from this couple, many are; thus, if you have the mutation, it is very possible that you are descended from this couple and this would provide a clue to your ancestry that could be explored with traditional genealogical research.  With cheap sequencing scientists and genealogists will be able to trace unimportant ‘quiet’ mutations through time and genealogies, just as scientists have already done with health-related mutations.

So how will all this help the woman identify her father? Someday in the very near future she will be able to query her genome against a database of genomes and ancestries.  Just as a deadly colon cancer mutation can be linked to a certain family, it is likely that the woman has one or more random mutations in her genome that are linked to certain families.  Using traditional genealogical research (to rule out inheritance of those mutations through her mother, for example) and genetic technology, she might be able to use that knowledge to identify possible sources of half her DNA.

Caveats

The scenario I posit requires two things which are not currently available:

1. Cheap and widely-available genomic sequencing; and
2. One or more databases compiling autosomal DNA and genealogies which can be queried.

Ethical Concerns

For most people, being able to identify your own ancestors based on your own DNA poses few if any ethical dilemmas.  However, what if your neighbor or your stalker or even law enforcement wants to use a sample of your DNA to identify your ancestors? Additionally, what if your living ancestor doesn’t wish to be identified?  Does the ancestor have that right, or is possible identification through genetic genealogy just one of the consequences of parenting a child anonymously or simply having sex with another person?

On December 30th, 2007, I blogged the following:

“[A]ffordable whole-genome sequencing is getting closer and closer every day (my prediction – which is based solely on my own educated guess – is that I will be able to sequence my entire genome for $1,000 or less by the end of 2009).”

It was pretty bold at the time, and I’ve since wondered if I was too optimistic, but now comes news that at least one other person agrees with my prediction.  Harvard professor and genetics researcher George Church – also principal investigator for the Personal Genome Project (PGP) – stated at two conferences, one last week and one this week, that by mid-October of 2008, 36-fold coverage of the human genome will be available for $5,000.  Church went on to say that the $1,000 human genome will be available by the end of 2009.

For more information about Church’s statements, see “PGP to Publish Initial Data Sets Next Month As Church Predicts $1,000 Genome in 2009” (registration required) at In Sequence, and a blog post by John Moore of Chilmark Research who attended a “Personal Genomics” session at this year’s EmTech (where Church reiterated the $5,000 and $1,000 hallmarks) .

The Personal Genome Project

At the same Yale University symposium where he discussed the crashing price of sequencing, Church announced that the PGP plans to publish data gathered from the “First 10″ (see here and here for the identities and backgrounds of the First 10) on October 21st at the PGP website.  These 10 volunteers will meet on October 20th to review their data and give permission to proceed.

Also, according to the In Sequence article, Church has indicated that “approximately 5,000 volunteers are currently ‘queued up at the entrance exam stage’” for the next round of the PGP.

Yesterday I wrote about 23andMe’s decision to lower their price to $399 (down from $999) while adding more genealogically-relevant SNPs and partnering with Ancestry.com.  Although I don’t have any further information about the new SNPs, I’ve seen a couple of interesting articles about the price drop around the blogosphere.

Aaron Rowe at Wired science writes “Human Genetics is Now a Viable Hobby.”  He notes that the new price is “well within the reach of cash-strapped grad students, frugal genealogy buffs and other not-so-early adopters.”  The comment thread is an interesting read as well.

“Cheap as chips”

Daniel MacArthur of Genetic Future writes “Cheap as chips: 23andMe slashes the price of personal genomics” at his new scienceblogs location.  Daniel also notes that the updated product “will certainly be popular with genetic genealogists” because of the addition of Y-DNA and mtDNA SNPs, and agrees with my hypothesis that other companies will follow suit and lower their prices.  Daniel also mentions the Personalized Medicine Collaborative (PMC) at the Coriell Institute for Medical Research, which is offering free personal genome scans to 10,000 individuals this year.

The Death of DTC Genetics?

Andrew Yates at Think Gene has suggested that free testing by the PMC will kill Direct-to-Consumer (DTC) genetics.  However, as Ann Turner commented on his post, the PMC does not return raw data, only interpretation of items they consider “medically actionable.”  This is the exact reason why PMC will not kill all DTC testing.  I think Andrew fails to appreciate that this is not a new world of genetic testing; genetic genealogists have been doing this for over 8 years now, and all we care about is the raw data.  The more raw data, the better.  Thus, history suggest that at least to the early adopters, raw data is vital.  Andrew answers Ann’s concerns by saying:

“So? I don’t get back the raw data of any other medical tests I take. If you just want a SNP sample of your genome because it’s cool, go buy a 23andMe or deCODEme test. That’s like getting an x-ray because you “want to see what your bones look like.” OK, some people may want to do this… and hey, I bought a 23andMe test for this reason… but most people aren’t choosing their x-ray test provider based on whether they get to keep their x-rays. “

But genetic genealogists (and undoubtedly many others) DO chose their testing provider based on the results they receive.  Sure, we like to know which haplogroup we fit into, but ultimately the most useful aspect of genetic genealogy is the comparison of Y-STR numbers (i.e. the raw data).  And genetic genealogy is an enormous market that has yet to be completely tapped.

(The other problem with Andrew’s assertion is that interpretation of genetic information (unlike a broken bone in an x-ray) varies; a SNP might mean one thing to company A based on study X, while it means another to company B based on study Y.  And this is, of course, an unavoidable result of the current stage of genomic science.  But why should I rely on just one source to interpret my genetic data?  Why can’t I interpret it myself or allow another entity to interpret it?  This is why entities such as SNPedia have recently been created.  After all, to use an analogy, aren’t you supposed to get a second opinion from a different doctor?)

And last but certainly not least, David P. Hamilton at bnet writes “23andMe’s Price Cut: The End of Commerical Personal Genomics?“  David suggests that 23andMe’s price cut is “an attempt to jump-start the data collection in order to kick the real money engine [data mining a large database of genotype/phenotype information created by 23andMe] into gear.”  However, he notes that this is a problem because it is difficult to extract phenotypic information from users, and because scientists can now afford to do their own large-scale genomic studies as the result of lowering prices (and free tests via the PMC).