Friday, December 31, 2010

2010 in Review at "Your Genetic Genealogist"

I have been blogging just over six months and, during this time, I have been amazed at the response. I could never have imagined the kind of readership and encouragement that I would receive in such a short time. I am a simple layman, not a scientist, writing about what I love - genetic genealogy, yet I have been welcomed and encouraged by those in the forefront of personal genomics. I am deeply honored to have the opportunity to participate in this incredibly exciting emerging field of research.

In particular, I would like to thank Daniel MacArthur of Genetic Future and Genomes Unzipped, Dan Vorhaus of Genomics Law Report and Genomes Unzipped, Blaine Bettinger of The Genetic Genealogist and Katherine Hope Borges, Director of ISOGG.

I installed Google Analytics on July 18th, so I have about five and a half months of stats. Since then, I have had 7,580 visits to my blog, resulting from only 32 posts. Of these visits, about 40% came directly to my site. Approximately 20% came from Google and the rest came from 261 different referral paths - including Discover Magazine Blogs, Science Blogs, Newsweek, Facebook, Twitter, Genetic Future, Genomes Unzipped, Genomics Law Report, Blogger, LinkedIn, SNPedia, DNA Forums, Cyndi's List, Rootsweb, Fatwallet, and CNN's Paging Dr. Gupta.

My post from November 23rd entitled, "News from 23andMe: Consolidated Offerings, Personal Genome Service, Upgraded Chip and Possible Sale" was the most visited with 843 views. This coincided with my biggest single day of 468 visits on November 24th. Thanks to many referrals, including Genomes Unzipped, "Ashkenazi and Me: A Case for EuroDNA Calculator Application Using Ancestry Analysis Tools from 23andMe" came in second. Third was "Washington Post - Can We Take The Higher Road?" dealing with the 23andMe sample mix-up. The fourth most read was "Sale and New Personal Genome Service Subscription at 23andMe." Rounding out the top five was my post from July clarifying the confusion over mtDNA testing vs. X-Chromosome testing.

What most amazed me is the type of readership that I have enjoyed this year. My readers come from 73 different countries - originating from top universities, research hospitals, pharmaceutical companies, the national news media, genomic sequencing/research/testing companies, venture capitalists and governments - as well as the expected genealogy enthusiasts. These include visitors from Stanford, Harvard, Yale, Princeton, MIT, Oxford, Cambridge, Columbia, Duke, Georgetown, Tokyo Institute of Technology, University of Sydney, Hebrew University of Jerusalem, Israel Interuniversity Computation Center, Danish Network for Research and Education, Wageningen University and Research Centre, Johns Hopkins Medical Institutes, Albert Einstein College of Medicine, Mayo Clinic, St Jude's Children's Research Hospital, Vanderbilt University Medical Center, King's College London, Royal Berkshire Hospital, Fred Hutchinson Cancer Research Center, Wellcome Trust Sanger Institute, Eurac, Russian Academy of Sciences, SMGF, Lawrence Berkeley National Lab, P4MI, Broad Institute, NASA, US Senate, US State Department, US Department of Foreign Affairs, US Department of Veterans' Affairs, US Department of Energy, Democratic National Committee, National Institutes of Health, FCC, Library of Congress, EPA, Social Security Administration, NHS Trust (UK), Commonwealth Department of Foreign Affairs and Trade (Australia), Department of Foreign Affairs (Canada), Illumina, Genentech, Eli Lilly, Counsyl, Siemens, IBM, Boeing, Google Inc, NY Times and USA Today.

This has demonstrated to me quite clearly the power and importance of personal genomics in our society. It has also proven to me that any of us can play a part in this emerging science. Scientists and hobbyists can work together and, it seems, our contributions are welcome.

I look forward to the exciting discoveries that 2011 will, no doubt, bring.

My Full Mitochondrial Sequence, Heteroplasmy and Comparing mtDNA designations at FTDNA and 23andMe

I received my Full Mitochondrial Sequence (FMS) results from FTDNA last week. FTDNA lists my mtDNA haplogroup as U5b1, while 23andMe reports it as U5b1b2. I am fortunate in that I have four exact matches in the FTDNA database, including a close relative of Dave Dowell of Dr D Digs Up Ancestors.
Often mtDNA testing is not especially meaningful genealogically, but in my case it is more so because this subclade does seem to be predominantly Finnish, which matches my paper trail perfectly. My matrilineal great grandmother Mathilda Huhtala (1878-1950)  immigrated to the United States from the South Ostrobothnia area of Finland in 1902. Thanks to my wonderful Finnish friends, including one of my early high resolution mtDNA matches, I have a pretty solid paper trail back to Margaretta Mattsdotter Kauppi Storstraka Taipale born 21 July 1712 in Härmä, Lansi-Suomen Laani, Finland. Margaretta is my sixth great grandmother and from the same area of Finland as Mathilda.
I have ten High Resolution (HRV1 + HRV2) mtDNA matches. Eight of these are Finnish and two suspect Finnish ancestry. Eight of the ten have done the FMS test and, of those, I match four. I'd say that I got pretty lucky since so many people have no matches to their FMS in the database so far. There seems to be quite a lot of interest in DNA testing among my subclade. Perhaps this is because Finns have an unusually high participation rate in DNA testing overall compared to other countries outside of the US.

I asked Dr. Ann Turner to review my results. She was especially interested in comparing the mtDNA sequences recorded by FTDNA to my 23andMe raw data. She found 34 no-calls in my 23andMe mtDNA data, including one at 6260 where, according to FTDNA, I have a heteroplasmy (notated by a "R"). She checked my mother's 23andMe data and discovered that she also showed a no-call there. Dr. Turner noted that no-calls are usually not significant, but in this case, she theorized that my mother may also have a heteroplasmy at that location, resulting in the shared no-call.

(Note on heteroplasmy- Funny how a concept becomes so much clearer when you learn that it affects you personally.)

From my custom report prepared by Dr. Turner:
You have the mutations that define superhaplogroup UK (11467G, 12308G, and 12372A)...U5 splits off with 3197C, 9477A, and 13617. U5 in turn is divided into smaller groups, with 7768G and 14182C defining U5b, 5656G defining U5b1, and 12618A defining U5b1b. Somewhat unusually, a mutation in HVR2, 217C, defines the deepest level, U5b1b2.
...the most recent mutations (are) the ones that have not been observed often enough to be formally recognized as a subhaplogroup. Population geneticists sometimes call these “private” mutations, using the word in the sense of “confined to particular persons or groups.” Private mutations may in fact be very recent or quite old, but regardless of their absolute age, they are the ones that narrow down the pool of matrilineal relatives to your closest cousins. Not everyone will even have a private mutation. Your private mutation is 6260R.

Interestingly at 23andMe where I have tested ten close matrilineal relatives so far, one of my first cousin's mtDNA haplogroup is designated as U5b, while the rest of us are U5b1b2. Dr. Turner investigated this difference by checking my cousin's raw data for no-calls. As she suspected, my cousin has a no-call at a defining SNP, thus causing the different designation. She also noted that this cousin does not share my heteroplasmy at 6260, adding, "That's a good illustration of how heteroplasmy levels can vary within a family."

Since Dr. Turner confirmed that there are no known medical implications to my mtDNA results, I am sharing them here for anyone who is interested:
HVR1 differences from CRS
16189C, 16192T, 16270T

HVR2 differences from CRS
73G, 150T, 217C, 263G, 309.1C, 315.1C, 573.1C, 573.2C

CR differences from CRS
750G, 1438G, 2706G, 3197C, 4769G, 5656G, 6260R, 7028T, 7768G, 8860G, 9477A, 11467G, 11719A, 12308G, 12372A, 12618A, 13617C, 14182C, 14766T, 15326G

I am in the process of submitting my results to GenBank. It is a bit complicated, so I am including links and helpful instructions I received from Ian below.

If you are looking for your FASTA file to submit to Ian Logan for GenBank, it has been moved. Here is what you do:
Login to your FTDNA account.
Go to the mtDNA -> Print Certificate/Report/Data page.
Look for where it says:
mtDNA Results
Click on the FASTA File link to download your FASTA file. Further submission instructions are here.

[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Sunday, December 26, 2010

23andMe's "New Low Price for All!"

The holiday sale has ended, but it appears that 23andMe has lowered their regular price to $199 (from $499) plus $5 per month for their PGS. This is a fantastic every day price point to entice more people into their database. I am very happy to see that they are staying competitive and making their service affordable to a large demographic. Hopefully, this will result in continuing advancement of our collective knowledge of the human genome.

Wednesday, December 1, 2010

End of the Year Sale at FTDNA

Family Tree DNA, the most trusted company in genetic genealogy, just announced their annual end of the year promotion. Starting tonight, there are great prices on the most popular products, including Family Finder (autosomal DNA test), Y-DNA testing and mtDNA testing. The regular prices are listed below with the sale prices in bold.

Price for NEW KITS: Regular Price Promotional Price
YDNA37 $149 $119
YDNA67 $239 $199
mtDNAPlus $159 $129
Family Finder $289 $249
Price for UPGRADE:
Family Finder $289 $229
Orders must be in and paid for by Dec. 31, 2010, to receive this offer.

I don't want to be the blogger who just reports on sales, however I do want as many people to get tested as possible. The more the databases grow, the more our success rate will increase in scaling those genealogical brickwalls and learning more about our ancestry. With that goal in mind, I encourage everyone to take advantage of, at least, one of the current holiday sales and get that DNA tested that you have been wondering about!

[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Tuesday, November 30, 2010

23andMe Holiday Sale Extended through December 25th and another DNA gift idea for Christmas!

This morning 23andMe's welcome page is announcing that the holiday sale has been extended through December 25th (or while supplies last). I would imagine that the first people to send their kits in from this sale will receive their results before the 25th. So, for those on the fence about the changes at 23andMe, there will likely be an opportunity to observe the reaction to the first wave of results from the v3 chip before the end of the sale.  If the reviews are positive, 23andMe should expect a rush of new orders before Christmas.

If you just don't know what to get your wacky relatives for Christmas and they have already had all of the DNA tests that you can force on them,  here's an idea: Ancestry Portraits by DNA 11, "the company that brought DNA Art to the masses".  The press release explains, "Portraits combine the science of genealogy with the technology of the mobile and social web..." by visualizing "maternal lineage in a custom piece of augmented art".  Even better, the article also states that those of us who already have our DNA results can use them to create our DNA Ancestry Portrait. Hey, if they bring the price point down, it would make a great gag gift for those relatives who roll their eyes and yawn when you start talking about DNA and genealogy.

Happy Holidays!

Thursday, November 25, 2010

More Holiday DNA Deals - From FTDNA and GeneTree

23andMe is not the only company that has cut their prices for the holiday. Both GeneTree and FTDNA are offering sales on their Y-DNA tests.

FTDNA's is offering a discount on Y-DNA upgrades. With more and more markers being offered all the time, this is a good chance to get the most of your Y-DNA results with the #1 most trusted company offering this test. If you have tested only 12 markers, you can upgrade to 37 for $69 ($30 off) or 67 for $149 ($40 off).  If you have tested 25 markers, you can upgrade to 67 for $148 ($39 off) and 37 marker tests can be upgraded to 67 for $79 ($20 off). These prices should appear when you log in to your personal page and click on the special offers link in the left hand navigation bar. Orders must be placed and paid for by December 1st. Obviously, you must have already tested at least 12 markers at FTDNA to qualify for this offer. Hopefully, FTDNA will have another offer before the end of the year to entice new customers into their huge database.

GeneTree's sale is on their Y-46 marker test. They are offering it for only $79.95 ($100 off) through Monday, Nov 29, 2010. I don't have any experience with this company, but the upside to testing with them is that, by doing so, your results are included in Sorenson Molecular Genealogy Foundation's database. Judging from the recent media articles, GeneTree is making a real effort to build a meaningful database of integrated "paper" genealogy research and DNA results. They encourage users to input their genealogy into their database by building family trees on their site. I really like this concept and will be keeping my eyes and ears open for more on this company.

23andMe's sale has now opened up to the public with no code required. According to a post on their Facebook page, the sale is expected to last through Monday. There now appears to be an option to order their product at the regular $499 price without the requirement of the PGS subscription. (Look under the red "Order Now" button for the blue writing, "Order for $499 with no subscription commitment".) This is very interesting. Perhaps they are rethinking the subscription requirement due to the negative feedback from their existing customers and the genetic genealogy community.

[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Wednesday, November 24, 2010

23andMe Sale and Updates

The 23andMe sale inadvertently went live early this morning (from about 2:00am - 8:00am PST) and many were able to order what was previously called the Complete Edition, now their only offering, for $99 plus a one year subscription to the Personal Genome Service ($159 total). This was not intentional since the sale was not meant to start until 10am PST.

From 23andMe:
"...There will be an update posted in the community after 10 am. I'm pretty sure...nobody will be disappointed. Getting our service into the hands of as many people as possible is our #1 goal...I hope everyone realizes that whatever plans we had went somewhat awry, and for that we are deeply apologetic. However, it is too late to rearrange the moving pieces, so nothing new will happen until 10am...Trust me, we know this is not an ideal situation - we would never have chosen to do it this way."

Judging from this, it appears that the sale will reappear at 10am, as originally planned. [Updated- The sale is now live and, reportedly, should last through Friday. All codes that have been released in the last 24 hours are valid, including CUBPNY.]

23andMe officially announced the availability of their new chip with this press release today, as well as updating their FAQs to address some of the questions that have arisen. In particular, according to this new FAQ, it should be noted that new customers will no longer receive updates, including new Relative Finder matches, if they cancel their PGS subscription, however they will still have access to any existing reports, matches, features and their raw data. Existing customers will continue to get updates for all reports based on the current chip. Any new reports that have data on the old chip will be available to them, without subscription or upgrade. To answer a common concern, 23andMe has confirmed with me that non-upgraded kits will still receive new Relative Finder matches from among the new orders. They said that the goal is for the existing kits to not be impacted by the new changes. Therefore, existing customers who do not upgrade will not be affected at this time, but, obviously, will not receive the benefits of the new technology. Current customers are being encouraged not to automatically upgrade, but rather to wait until they "see the value". We are assured that the option will continue to be available.

It is also my understanding that if you have kits that you bought before Monday, but haven't yet sent them in, they will be processed on the new v3 chip and do NOT require a subscription! (That is the best deal of all!)

With the above in mind, I plan to order a whole new kit instead of upgrading. Since the upgrade costs $89 plus a monthly subscription of $5, then it is only $10 more for a whole new kit. That way I can keep my existing kit without the subscription and continue to get new Relative Finder matches and continued updates, even if I decide to cancel the subscription for the new kit after 12 months. I will report the differences here when I get my results. [Update- 23andMe is discouraging this approach because it will fragment the information (surveys, etc)  and may confuse users (multiple RF profiles).]

Tuesday, November 23, 2010

News from 23andMe - Consolidated offerings, Personal Genome Service, upgraded chip and possible sale

The DNA genealogy mailing lists and Twitter are all abuzz about 23andMe's new consolidated offerings and price structure, as well as the possibility of another $99 sale tomorrow.  Back in September, I wrote about 23andMe's new subscription plan - the Personal Genome Service here and here.  Not surprisingly, they appear to have changed their model to require this subscription for all new orders starting today. (It seems that 23andMe has taken a lesson from direct response marketing - where we used to say that product is King, but now we all know that continuity is King!) They have done away with the separate Health and Ancestry Editions and now will only offer what was formerly the Complete Edition for $499 plus a minimum one year subscription to their PGS ($5 per month). All customers who formerly had the separate editions have been automatically upgraded and will immediately have access to their raw data as well as all tools currently offered on the site.

23andMe has also announced that they have upgraded their testing chip to the Illumina OmniExpress Plus Genotyping Beadchip, which was originally released in January of this year and enhanced in March. Information on this chip (before enhancements) from the press release:
  • Premiere Genomic Coverage - Greater than 700,000 strategically selected tagSNPs provide genomic coverage up to 90% for Caucasian and Asian populations as assessed by the International HapMap Project.
  • Proven Data Quality - Industry-standard Infinium HD Assay affords greater than 99% average call rates and greater than 99.9% reproducibility.
  • Industry Best Throughput - With the iScan System, researchers can process in excess of thousands of samples per week.
Specifications for the original are here. 23andMe may have a custom designed version of this. The original press release described a chip with coverage of 733,202 markers, while the enhanced "Plus" version appears to cover greater than 900,000 markers. Either way, it is a significant upgrade from the previous 580,000 SNPs. (I am not an expert on this, so please refer to the original sources yourself for details and clarification; more here.)

[Update - From 23andMe's updated FAQs :  
The DNA chip that we use genotypes hundreds of thousands of SNPs at one time. It actually reads 1,000,000 SNPs that are spread across your entire genome. Although this is still only a fraction of the 10 million SNPs that are estimated to be in the human genome, these 1,000,000 SNPs are specially selected "tag SNPs." Because many SNPs are linked to one another, we can often learn about the genotype at many SNPs at a time just by looking at one SNP that "tags" its group. This maximizes the information we can get from every SNP we analyze, while keeping the cost low.
In addition, we have hand-picked tens of thousands of additional SNPs of particular interest from the scientific literature and added their corresponding probes to the DNA chip. As a result, we can provide you personal genetic information available only through 23andMe.
There is a list of the 733,202 non-custom markers here.]

Existing customers have the option to upgrade their results to this new testing platform for $89, but it also requires subscription to the Personal Genome Service. Existing customers will not be required to subscribe or upgrade and will still receive their updates as before. Not surprisingly, without the upgrade, some new information based on specific markers will not be available.

All week 23andMe has been tweeting about upcoming sales and one tweeter who may or may not have inside info tweeted this morning, "@23andMe $99 discount returns; code B84YAG to be live 10 AM Wednesday for the new v3 chip."  I imagine this sale price will require a subscription to the Personal Genome Service, but at only $5/per month, this is still a great deal.

I will post updates as I get them, but keep your eye on 23andMe!

**UPDATE - 23andMe is determined to keep the details secret until tomorrow. We will just have to be patient! Check back then for more...

Sunday, November 7, 2010

Genetic Genealogy in the News: Another misleading, inaccurate story out of Salt Lake City recently ran an article about genealogy and DNA testing. I am always happy to see my hobby in the news, however, I have real concerns about some of the claims that are being made in this story. As a long time genealogist and experienced genetic genealogist, I find this story very misleading and, potentially, detrimental to the industry.

First of all, the article states that "Amanda Gilbert is the only person in the world who can claim accused witch, Rebecca Nurse, and persecutor, Reverend John Hale as grandparents."  Wow, really? These people lived in 1692. They could each potentially have thousands of descendants. A quick search of the Internet or turns up many who claim descendancy from each Reverend Hale and Rebecca Nurse. I guess it is possible that Ms. Gilbert is the ONLY one descended from both Hale and Nurse, but that is quite a claim. Doesn't she have any siblings or children? Did the reporter do the extensive genealogical research necessary to substantiate this claim? Before I made such a far-reaching statement, I would be sure and do a thorough and extensive genealogical study of each of the subjects, following all descendants down to the present day. I could chalk it up to naivete and a lack of understanding of genealogy on the part of the reporter, but the problem appears to go deeper than that.

The article goes on to "quote" Scott Woodward, president of the DNA testing company GeneTree and principal investigator at the Sorenson Molecular Genealogy Foundation, “We can identify the pieces of DNA that belong to each one of those individuals in the past, and then we compare that to other people’s DNA and identify the great, great, great grandparents you have in common” and referring to Gilbert's DNA, “We put that into the data base and started looking around. She’s also related to the Reverend John Hale.”

I am simply dumbfounded by these statements. It certainly sounds as if he is referring to autosomal DNA testing. As a Beta tester for the only two companies who have introduced commercial relative matching through autosomal DNA testing so far (23andMe and FTDNA) and an active member of the genetic genealogy community and ISOGG (International Society of Genetic Genealogy), I find these claims incredulous. There are many of us who have been working long hours studying our autosomal DNA results, attempting to determine which pieces of DNA came down to us from which ancestors, but it is difficult and slow work. This type of DNA research is new and, to my knowledge, none of us yet claim to be able to definitively identify the blocks of autosomal DNA from specific ancestors more than a couple of generations back. There may be a few on the forefront of autosomal DNA family studies who, in limited examples, appear to have strong evidence that links blocks of DNA to a specific ancestor, but they stop short of making absolute claims at this early date. I have confidence that, in the future, we will be able to accomplish this, but not until MANY more people are tested with solid genealogies. To make matters worse, the way it is written, Woodward seems to be claiming to be able to identify DNA from an ancestor who lived more than three hundred years ago! The companies and the scientists leading the way in this new science (autosomal DNA testing), are tentative about predicting shared ancestry more than a couple of hundred years in the past at MOST. If GeneTree has evidence that they can do what Woodward seems to be claiming, there are many of us who would love to see it and will happily and enthusiastically congratulate them on their accomplishment.

Since, according to their website, GeneTree doesn't even do commercial autosomal testing, perhaps Mr. Woodward is referring to Y-DNA testing. In that case, his claim that DNA showed that Ms. Gilbert is descended from Rev. Hale may be possible, but it couldn't have been her DNA. Maybe Ms. Gilbert has a male relative who was tested by GeneTree and whose Y-DNA matched those Hales known to descend from the Reverend. It is certainly possible that the reporter may have misunderstood and taken Mr. Woodward's statements out of context. If this is what he meant, then more explanation was certainly needed. Perhaps GeneTree can clarify this. I know from personal experience with the press that what you say is not always what they write, so we should give Mr. Woodward and GeneTree the benefit of the doubt in regard to these seemingly outrageous claims.

Whether intentional or not, these types of public statements could spell big trouble for the future of DNA Ancestry testing.  One always runs the risk of being misquoted by the press, therefore DTC genetic testing companies would be prudent to err on the side of caution in their claims and interviews. As we all know, regulatory agencies have their eye on these companies. If those of us involved in the industry make what appear to be unsubstantiated or misleading statements in regard to what can and cannot be accomplished with DNA testing, it gives these agencies an excuse to interfere, even in ancestry testing. While we cannot always prevent how we are portrayed in the press, we can be very clear about the current limitations of DNA Ancestry testing. Any time we speak to the press, we need to keep in mind that the reporters writing about our complex industry may not have the necessary expertise to fully understand what we are saying, so we should make a concerted effort to educate them. When and if an article is published that contains inaccuracies or misstatements, it must be our responsibility to publicly refute it.  In order to minimize the risk of misinformation and misleading claims, we need cooperation and industry-wide standards among DNA Ancestry testing companies. It is my fear that if we do not take proactive steps toward some form of self-regulation, we are inviting outside interference.

** Please read the update in the comment section below from Dr. Ann Turner.

[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I receive no other compensation in relation to any of the companies or products referenced in my blog.]  

Saturday, October 9, 2010's New Feature "View Relationship To Me"- a time saver for genetic genealogists

Have any of you noticed the new feature on's Member Trees called "View Relationship To Me"? I just happened to come across it today while investigating a match from Jim McMillan's spreadsheet. The new match and I share the surname Eastman, so I was looking at the immigrant Roger Eastman on my Ancestry tree to determine our connection and I noticed a box on his profile page that said, "View Relationship To Me". I clicked on it and it showed me the entire line from Roger down to me, telling me that Roger is my 10th great grandfather (and, it turns out, our connection)! I used to have to do this manually by counting down the generations. (Sometimes I would even get lost if I had listed the siblings in each generation.)  Now, with one click I can see how anyone in my tree is related to me. This is a really great addition and definitely a time saver for those of us working on finding our connections to our DNA matches. There is also an option to add the relationship on your relative's profile just below their name, so anyone looking at your tree can see how you are related to a specific ancestor. If widely utilized, this may cut down on the "How are you related?" messages on Ancestry that so many of us receive (and send).
There is a post about this new feature on the Ancestry Blog. Some readers have noted that they could do the same thing with their genealogy software, but I had never seen this before. Have you?

Sunday, September 26, 2010

Known Relative Studies with 23andMe: Great Grandchild DNA Inheritance

Great Grandchild Inheritance Pattern

I am very fortunate to have the opportunity to see the inheritance pattern of a great grandchild in my known relative studies at 23andMe, so I decided to share it. For those of you who are not familiar with the 23andMe user interface, the above chart is an illustration of the 23 pairs of chromosomes that we all possess. For simplicity, only one chromosome is displayed to represent each pair, thus the 23 bars. Using the Family Inheritance Advanced tool one can choose to compare selected individuals and a chart is generated to illustrate the shared DNA between them.

In this chart, the light blue is the shared DNA with the mother, the light green is the shared DNA with the grandmother and the dark blue is the shared DNA with the great grandmother. Of course, the parent and child (light blue) share DNA across all 23 of the chromosomes, as would be expected. This represents the 50% of shared DNA between the child and parent. The grandparent and child (light green) usually would share approximately half as much DNA with the stretches being broken up into smaller blocks. In this case, the child inherited a larger than expected amount of shared DNA with the grandparent at 31.54% (expected ~25%). The great grandparent and child (dark blue) should share approximately half as much DNA as the child and the grandparent, with the blocks broken up into even smaller fragments of shared DNA. In reality, the percentage is less than half at 14.75% of shared DNA, which is still rather high compared to the norm (expected ~12.5%).

As you can see, the percentages will vary from the expected values. Notably, 31.54% is the highest sharing I have seen between a grandparent and child in my research so far. Since the child inherited 50% from the maternal side, there is only ~18.46% that could have been inherited from the other maternal grandparent, which is well below the expected 25%.

Notice that as the relationship gets more distant, in general, the shared blocks of DNA get smaller, disappearing completely on some of the chromosomes. On Chromosome 13, there are no stretches of shared DNA (that meet the threshold for this tool) between the grandparent and child. This means that on Chromosome 13, this child has inherited significant DNA from the other grandparent's ancestors (in this case, the maternal grandfather). Following this same pattern, on Chromosomes 6, 13 and 14, the great grandparent and child do not have any significant blocks of DNA. Also notice on Chromosome 10, the grandchild inherited the entire maternal grandmother's chromosome (light green across the entire bar). That means that Chromosome 10 has no (significant) DNA from the maternal grandfather.

Please remember that, in this case, we are only looking at half of the child's chromosomes. The child has another set of 23 chromosomes inherited from the father. Since we are not comparing the child with any paternal relatives, none of those chromosomes are represented in this chart or analysis.

**For more posts on my family studies, please see here. **

Known Relative Studies with 23andMe: Expected Percentages

I have had quite a few known relatives test with 23andMe recently. In the coming months, I will be writing a number of posts based on these results. As an introduction, I wanted to review some of the information that 23andMe and FTDNA provide in their FAQs regarding their autosomal DNA tests, Relative Finder and Family Finder.  All of these percentages are estimates and will vary due to the random nature of genetic inheritance. The following statistics apply to both 23andMe's Relative Finder (RF) and FTDNA's Family Finder (FF).

Expected percentage of shared DNA between:
Parent/child/siblings = 50%
Grandparent/grandchild/aunt/uncle/nephew/niece/half-siblings = 25%
1st Cousins/great-grandparent/great aunt or uncle/grandnephew or niece = 12.5%
1st Cousins once removed = 6.25%
2nd Cousins = 3.125%
2nd Cousins once removed = 1.563%
3rd Cousins = .781%
4th Cousins = .195%
5th Cousins = .049%
6th Cousins = .012%
7th Cousins = .003%
8th Cousins = .001%

The likelihood of detecting shared DNA with a known relative significant enough to show up in RF or FF:
1st Cousins and closer: 100%
2nd Cousins:  > 99%
3rd Cousins:  ~ 90%
4th Cousins: ~ 45% (FTDNA says > 50%)
5th Cousins: ~ 15% (FTDNA says > 10%)
6th Cousins and more distant: < 5% (FTDNA says < 2%)

In some families, there will be situations that will complicate the above predictions, such as cousin marriages and half-siblingship, but, in general, they are the guidelines that should be used in analysis and comparisons.

Further reading from this series -
Known Relative Studies: Great Grandchild Inheritance
A Success Story and the Randomness of Autosomal DNA Inheritance (Fourth and Fifth Cousins)
Known Relative Studies: Second Cousins 
Known Relative Studies: More Second Cousin Comparisons 
Known Relative Studies: Second Cousin Comparisons, Allen Great Grandparents
Known Relative Studies: Second Cousins or Half Second Cousins 
Known Relative Studies: Identifying DNA from Great Grandparents Using Second Cousin Comparisons
Known Relative Studies: I Found My Third Cousin Today! 
Known Relative Studies: A Third Cousin Comparison and More Random Autosomal DNA Inheritance
Known Relative Studies: Purdy Fourth and Fifth Cousins
Autosomal DNA Matching and the Importance of Testing Multiple Family Members (Ninth Cousins)
Ratekin Seventh Cousin
A Second Cousin Adds to My Chromosome Map and Answers a Nagging Genealogical Question

Sunday, September 12, 2010

"Ashkenazi and Me": Making a case for the Euro DNA Calculator application using ancestry analysis tools from 23andMe

Some time ago, I ran my raw 23andMe data through the Euro DNA Calculator Application. (Euro-DNA-Calc, compiled by Dienekes Pontikos, computes an admixture estimate with Northwestern European, Southeastern European, or Ashkenazi Jewish parental populations. The calc uses 300 markers from a scientific study.)  I was surprised to find that it estimated 86% NW European and 14% Ashkenazi for me.

My Euro-DNA-Calc Chart

Interestingly, my mother showed no Ashkenazi at all in her results with a 100% NW European prediction. Since I have no known Jewish heritage, after some research into the application, I disregarded it.

When 23andMe's Ancestry Finder was launched and began noting Ashkenazi segments, I noticed a spot on my Chromosome 7 that appeared to have a clump of self-declared Ashkenazi matches. When 23andMe started providing the download of the matches associated with Ancestry Finder, I saw that I had no less than 21 "Ashkenazi" matches on Chromosome 7 between 53.3m and 94.3m. My mother had none. These matches all appeared to be rather small and only on that one spot, but it did get me thinking about the possibility of distant Jewish ancestors again.

My Ancestry Finder chart set at 1 Ashkenazi grandparent

Since my father is deceased, I asked my paternal uncle to test in his place. Yesterday, I received his results. There, clear as day, on his Chromosome 7 appears that same Ashkenazi clump that I have (plus a little more: he has 37 self-described Ashkenazi matches on Chromosome 7 on the Ancestry Finder download).

Paternal Uncle's AF chart set at 1 Ashkenazi grandparent
Paternal Uncle's AF chart set at 4 Ashkenaki grandparents

Equally as significant, I could immediately see that he has a number of Public Matches in Relative Finder who list their ancestry as Jewish. Most of them are predicted as "Distant Cousin", which probably explains why they didn't show up in my Relative Finder. In this case, testing just one more generation back revealed very useful information.

While this Ashkenazi ancestry is clearly quite distant, it certainly appears to be authentic after all. Although the Euro DNA Calc greatly overestimated the likely percentage, it does seem to have picked up on legitimate Ashkenazi markers in my DNA.

Bravo, Dienekes!

Friday, September 10, 2010

23andMe's Relative Finder - Matching a cousin on both sides of my family

I had long suspected that Cousin E and I were related on both sides of my family, but didn't have proof until today. On Relative Finder, I match Cousin E on two segments, but she only matches my mother on one. The other segment was a fairly small one (7cMs), so I thought it could possibly have just been missed.  I was curious and wanted to find out.
My father is deceased, so I recently asked my paternal uncle to test at 23andMe in the place of my father. Today, I received his results. Sure enough, he too matches Cousin E!

The dark blue on the chart above signifies the areas that my DNA matches Cousin E. The green is where my mother matches E and the light blue is where my paternal uncle matches E. As one can see, my uncle and myself share the match with E on Chromosome 5 (represented by the bar with the number 5), and my mother and I share the match on Chromosome 7 (represented by the bar with the number 7). Therefore, the matching segment on Chromosome 5 was inherited through my father's ancestry and the match on Chromosome 7 was inherited through my mother's ancestry.
Cousin E and I have not determined our exact connections yet, but we do share Finnish ancestry from the same area (my mom's side) and New England Colonial ancestry (my father's side), so the matches do seem to make sense. We are predicted to be 4th Cousins (3rd to 5th) based on our two matching segments and .37% shared DNA. Since the two segments are obviously inherited from two different ancestors, our likely connection is further back. My mother is predicted to be a 4th Cousin (3rd to 7th) to Cousin E with .28% shared DNA and my uncle is predicted to be a 7th Cousin (4th - 10th) to Cousin E with .09% shared DNA.

Friday, September 3, 2010

No Need for Panic, Business as Usual: 23andMe's Personal Genome Service Subscription

I posted yesterday about 23andMe's new Personal Genome Service subscription plan. Since then, there has been a lot of speculation about this new service and many existing customers are concerned about the potential of having to pay for continuing access to their results and new matches. As I pointed out before, the subscription is NOT required for the Ancestry Edition, which leads me to believe that it has nothing to do with access to future matches and Ancestry services.

Here are my thoughts as a marketing professional (they are my opinion only without any further input from 23andMe):

I am going to go out on a limb and say that I am confident that existing customers will not be charged to see their results in the future. I think this move would earn 23andMe so much bad press and ill will that it would ruin them. I trust they will not alienate their existing, loyal customer base. This is an innovative company with a goal to grant each individual access to their personal genome. Just like Google's mission is to "democratize information,"  23andMe's mission is to make genetic information available to the masses. To continue to make this fiscally possible, they must be profitable. They are simply testing marketing strategies in line with those goals. This is a proactive and, possibly, necessary marketing move. Lower upfront prices will result in more customers. Think of the "subscription" as a payment plan. When we at StudioINTV run the direct response ads that we produce, we test many different price points and payment plans. Continuity is a proven money maker and a necessity for success in some campaigns. I really believe 23andMe is just testing the waters and trying to determine what "plan" results in the most customers. Not everyone has $500 upfront and that big ticket price sometime scares away even those who do.

Business as usual, ladies and gentleman. no need for panic.

***Update: A reader has shared this email with me:

Thank you for contacting us.  We're happy to clarify for you.

--- 23andMe would like to make our service accessible to as many people as possible.  To that end, we are currently exploring the viability of a lower entry point.  This pricing will be available for a limited time.
--- Existing customers are not impacted at all.  You will continue to receive all updates at no additional cost.
(emphasis mine)
--- Multi-kit discounts do not apply to the subscription edition of the service.  The multi-kit discounts will still apply to Ancestry Edition (at $229), the Health Edition (at $429) and the Complete Edition (at $499).  The discount is $25 off per kit for Ancestry or Health when you purchase two or more and $50 off per kit for Complete when you purchase two or more.

Please let us know if we can be of further assistance.

Best Regards,
The 23andMe Team

Thursday, September 2, 2010

Sale and New Personal Genome Service Subscription at 23andMe

Today 23andMe has announced their new Personal Genome Service in conjunction with the sale price of $229 for either the Health or Ancestry Editions and $299 for the Complete Edition. In order to qualify for the sale price, the Health and Complete Editions require a minimum 3-month subscription commitment to this new service at $5/per month. Apparently, the Ancestry Edition does not. (This may lead to speculation that the new service has something to do with the impending FDA regulations.) Since this sale is a test it could end at any time.
A rep at 23andMe told me that the goal is "to get this (their product) into as many people's hands as possible, so we'll periodically do some testing of lower price points." Beyond that, the representative declined to elaborate at this time.

Sunday, August 22, 2010

Another Update on the Proctor DNA Project

We had quite a week over at the Proctor DNA Project, with lots of inquiries. It looks like things are finally starting to heat up for us!
As a result, we had a new member sign up yesterday. He ordered the "Comprehensive Genome" product from FTDNA. This includes the 67-marker Y-DNA test, the Full Mitochondrial Sequence (FMS) and the new autosomal Family Finder test. (Wow!)
It appears that he and I are 8th cousins on our Proctor line. We both trace back to John Graye Proctor through his grandson Joshua. Since my Proctor first cousin once-removed will also be swabbing this week, their Y-DNA results should come in about the same time and, hopefully, match. He and I might even find an autosomal match on Family Finder! This should be VERY interesting...

[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I receive no other compensation in relation to any of the companies or products referenced in my blog.]  

Thursday, August 12, 2010

Update on the search for my Proctor Y-DNA...

Just a quick post to announce that my Proctor first cousin (once removed) has graciously agreed to provide his Y-DNA and the kit has been ordered from FTDNA and is on its way! This came about much sooner than I expected, but has been a long time coming. Proof that persistence does pay off! I can't wait to analyze and report the results in a couple of weeks! For those who may not have read my earlier post about my search for my maternal grandfather's Y-DNA signature, please read it here.

On another note, I posted information about the Proctor DNA Project on a couple of genealogy boards this week and was happily surprised to receive a number of promising inquiries, including correspondence with the webmaster of the fantastic House of Proctor Genealogy site. He has kindly offered to post a link to our project on his heavily visited website which should greatly improve its visibility.

I am looking forward to making the project a great success for all of those involved!

[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I receive no other compensation in relation to any of the companies or products referenced in my blog.] 

Monday, August 9, 2010

Science vs. Censors and Scoundrels

[Note from Your Genetic Genealogist: I have a guest writer today who was determined to voice his opinion, so I have given him a forum. I think he makes very relevant points.]

Our Nation of scientific stagnation and regulatory constipation
I just finished reading a most excellent blog entitled “FDABLOG.” [Note from YGG: Please read the post "In wake of FDA offensive, genomics entrepreneurs look overseas" in the link.] There’s but one thing that I want to add, something that is already touched on in this excellent blog- i.e. that many are not speaking out on this, including executives and prominent venture capitalists because of fear of FDA retaliation. You might want to read that line again and let it sink in a bit. I did, and I have to admit this is a frightening thought. 

It becomes more frightening yet when you consider that this statement did not come from some conspiracy theorist living in an underground compound in Pahrump, Nevada. Instead, it came from a highly credible source.  If the same venture capitalists that are key to funding this genetic revolution (would-be revolution if the FDA will get its way) are hesitant to speak up in fear of retaliation from a regulatory body put in place to protect its citizens against, well, the line gets a little blurry here, then perhaps we need to ask what else do we need to be afraid of?   
Now, how can I say this without sounding like a mad conspiracy theorist...but I have to: If this is true, what then is the real agenda?  Why is it that the FDA had such a sudden “shift” in attitude lately? Is it that because of the transparency of information across all lines from scientist to consumer,  the field of genetics and personalized genomics is moving away from the caring arms of the regulators? Are we getting close to some groundbreaking discoveries that will render current treatment methodologies archaic? If so, and because of this transparency of information, is it possible that such new discoveries would not qualify for “protection” under patent law? If that is truly so, at least we need no longer question why the FDA has suddenly become so protective over... what?
I know this is pure speculation but is it that far off? Let’s look at some facts: Is it not true that in the Ritalin scam it was later discovered that pretty much every FDA panel member had a personal interest in the pharmaceutical companies that were peddling these drugs for kids and that dangerous, even deadly, side effects were purposely covered up in the approval process? [Source] Kids die, that’s ok, but we’re not allowed to see our genome… don’t get me going…  

Whether this is all true, pure speculation or somewhere in between, one thing remains irrefutable: It is frightening and unacceptable when key players, vital to the future of this industry, are concerned about speaking out because of fear of retaliation. It is further frightening and, frankly, deplorable that we as a society will allow this to take place in our own back yard. 

Whatever happened to that “I’m mad as hell and I’m not going to take it anymore” spirit?  So – c’mon everybody, speak up, get mad as hell, write letters, emails, blogs, get involved … be American for Pete’s sake! Only action will reveal the truth. Inaction will continue to pave the way to a nation of scientific stagnation and regulatory constipation.

Love America, but Proud to be a Swede.

Tuesday, August 3, 2010

Should You Take An At-Home DNA Test? Knowledge is Power!

This week Mary Carmichael is writing a series of articles in Newsweek in her quest to decide whether or not to take an at-home DNA testSo, I have decided to share my experience with DTC genetic testing with Mary (and you) in hopes of encouraging her to go through with her test. Some of what I write may have relevance to her, while some may not, but I am including it all in case there are more of you out there wavering with the same decision who need a gentle nudge.

There has been a lot of attention on the DTC genetic testing industry as of late, much of it negative. This may discourage some who were considering taking an at-home DNA test. As I have related in earlier blogs, personally, I have experienced a wide range of benefits from my genetic tests and I have witnessed many others receiving benefits as well. These experiences are dismissed by many as "anecdotal," but they are very real to me and the others who have experienced them. "Experts" may disagree with me, but I can only report what I have experienced and witnessed in my many hours of working with DTC genetic testing. So, you've been warned, this is not a scientific study! I am writing from the perspective of a self-educated consumer of DTC genetic testing (and have no financial stake in the industry).

Mendelian Disease Carrier Detection and Prevention
I tested with 23andMe for purely genealogical purposes, but discovered some very surprising and important medical information. I am a carrier of Cystic Fibrosis. No one in all of my extended family has ever suffered from this disease as far as I know (and I know a lot about my family's medical history from my extensive genealogical research). When I was pregnant, my doctor never ran nor suggested any genetic tests, so I was not aware of this status even though I already have a child. I also tested my mother through 23andMe and found that, not only did I not inherit this trait from her, but that she is a carrier of a different Mendelian Disease. So I must have inherited the CF carrier status from my dad (who is deceased). This means that there was potential for my siblings and myself to inherit at least two Mendelian Disease carrier statuses. This knowledge could prove to be very important for my five nieces of child-bearing age, my own child and myself (if I plan to have more children). It is highly plausible that through the knowledge of my carrier status (or my mother's), one of my future family members may avoid inheriting a serious genetically predictable disease. This may be the case for you too. You may have the opportunity to inform your family of important health-related information and, potentially, avoid the occurrence of a devastating disease affecting your family, simply through a little knowledge and education. Many young couples do not even consider the possibility of bearing a child with a Mendelian inherited disorder. With education and access to DNA testing, many of those diseases can be avoided or even eradicated. While 23andMe does not test for all variants of the Mendelian inherited traits for which it reports carrier statuses, it does make one acutely aware of their existence.  Some may decide to undergo prenatal genetic counseling that they, otherwise, may not have considered. 
Knowledge is power!

Health Risk Factors
I have also been made aware of some potential genetic health risks through my results at 23andMe. Are they 100% correct? It really doesn't matter in my case because it has inspired me to make more thoughtful lifestyle choices - like eating more fiber. Of course, I had been advised of this before, but, like many of you, I wasn't doing it. Don't our doctors, our parents and the media remind us over and over of the need for healthier lifestyle choices? Of course they do, but, does it really sink in? Judging by the behavior of the majority of us, the answer is NO.  However, for many of us, hearing what our genes seem to be telling us does make a difference!  There is something intensely personal about having your own body remind you and provide the hints and tips to a healthier lifestyle. For me, getting the results of my 23andMe genetic test, has encouraged me not only to make better choices, but to become better educated about my body and the diseases and illnesses that may afflict it. The potential for self-education is endless, starting with 23andMe's informative resources and extending to all that you can take in from the vast amount of information available on the Internet - like countless health-related academic studies and the mesmerizing concept of personalized medicine (read about Leroy Hood's P4 Medicine). We are truly so fortunate to have all of this at our fingertips! 
Knowledge is power!

Research Benefits
Many suffering at the hands of a disease feel powerless to it. Customers of 23andMe have expressed to me that it gives them a sense of empowerment by participating in the research at 23andWe. They feel that they are fighting the disease in a large scale manner by contributing to research that may eventually enable scientists to conquer the disease that plagues them. The benefits of these research efforts to society as a whole are obvious. There is still so much to be learned about the links between our genes and disease and, by testing, we can help!
Knowledge is power!

Citizens of the World - Blurring of Racial Lines

On a lighter note, the Ancestry portion is fascinating! For a person who is interested in genealogy, anthropology, geography, history or racial studies, it is unbelievably entertaining. For those of you who don't care much about those subjects, it will still be of great interest because it is all about you! Learning about yourself, what makes you unique and what connects you to others around the world is a very enlightening experience. Personally, I feel much more connected to my ancestors (and even to their homelands) knowing that I carry their DNA. Further, when you are "introduced" to your living relatives all over the world, you start to feel like a true international citizen and some of the things that separate us all seem a little bit less significant. If some, by learning how truly interconnected we all are, are able to decrease or overcome their prejudices, what a benefit that will be! 
Knowledge is power!

Because of 23andMe, I have evolved from a genetic genealogy hobbyist into a personalized medicine advocate. I truly believe that the more information and, thus, knowledge that we have, the better we will all be. In a society where we desperately need to start taking responsibility for own well being, genetic testing and the education that comes with it, should be encouraged not demonized. My fear is that with misdirected regulation and the recent negative press about this industry, people will be discouraged or, even, obstructed from educating themselves about their genomes. If that happens, the much needed progress in this important field will be halted. 

My experience is this: 
1. People take more responsibility for their own health with increased knowledge and education. 
2. People take pride in contributing to research and increasing general knowledge about the human genome. 
3. People feel more connected to the world and people around them with increased knowledge of their personal genome. 

Knowledge is power!

Obviously, I sincerely hope you will decide to be tested and, through this experience, gain as much as I have. 

Sunday, July 18, 2010

Protection or Paternalism? - Part Three on 23andMe's Genomic Policy Forum

SURGEON GENERAL'S WARNING: DTC genetic testing delivers information that could cause you to jump off a bridge, cut out an organ and may complicate the health care industry's ability to maximize their profits.

After my Part Two blog, I realized, why shouldn't I be outside taking advantage of the nice weather? Times have changed! So, here I am now blogging at the beach and wondering why, in this digital age, the medical community is still struggling to digitize our medical records.

For us personal genomic enthusiasts the question of the day is: Will impending regulation limit our right to have access to our genetic information and, if so, to what extent?

I am told that when deliberating on regulation, the FDA uses a risk-vs-benefit model. They consider potential adverse outcomes for the consumer when deciding how and when to regulate. As of late, there is this fear of consumers making adverse decisions based on their DTC genetic test results. Is this a well founded fear? The question that I posed to the panel in the final segment of 23andMe's genomic policy forum on Wednesday was this: Is this risk a real, demonstrated one or an imagined one?

This is not a brand new industry. In fact, several companies have been providing genetic profiles long enough that we should be able to get a definitive answer to this question. Have there been any real life, significant examples of adverse outcomes or harm done to a customer during this time? Since any industry has some incidences where a customer has had an adverse outcome, one would imagine there must be some in DTC genetic testing, right? Other than the over-sensationalized stories of late that have turned out to have no reported long-term consequences, where are they? If the few people involved in the recent, much covered, sample mix-up are tired of being hounded by reporters (which they are) and national reporters are having to aggressively seek negative experiences from DTC consumers (Daniel MacArthur's Genetic Future blog), with some even going so far as to exaggerate the comments of the ones they do speak with to give them a more negative slant, doesn't that, in itself, tell us something?

Opponents of DTC genetic testing are raising the spectre of distraught consumers jumping off bridges or cutting off body parts for knowledge of their risk factors. (Since when can you cut off/out body parts without first consulting your doctor and then without the the aid of a surgeon anyway?) In sharp contrast to some of the FDA approved pharmaceuticals that have proven side effects, including death, where are these adversely affected consumers?

Are we regulating for the lowest common denominator or for the reasonable consumer? Any reasonable customer when confronted with what they perceive as disturbing test results, will go to their doctor to inquire about it. The doctor can, in turn, weigh the environmental factors and medical history and advise the patient. For example, if a woman tests positive for the breast cancer gene, can she choose to undergo a double mastectomy without a doctor's input? Of course not.

The only potentially authentic risk that I heard presented at the forum was one of the patient/consumer deciding to forgo regular check-ups because they feel they are not at risk for certain illnesses. People make, arguably, worse health decisions without interference all the time. Perhaps the government should regulate fast food consumption and institute mandatory work-outs, like gym class in school. How about the fact that consumers have direct access to cigarettes and alcohol, both of which have demonstrable risk and place an immense burden on society? If the FDA and Congress are so concerned about the public's well being, then why not deny or heavily regulate access to these unquestionably harmful choices? Perhaps because there is no perceived economic gain in doing so, while sadly, there is never-ending and ever-increasing phenomenal economic gain involved in the treatment of obesity, diabetes, heart disease…the list goes on.

For approved dangerous pharmaceuticals, it is said that the benefits outweigh the risks. But what are the side effects of education and information? Are we being protected from ourselves? If we are going to consider the risks posed by DTC genetic tests, then we also have to consider the benefits. Adverse outcomes get lots of press, but what about all of the quiet benefits and successes? How many children won't suffer from Mendelian-type diseases because their parents learned of their own carrier statuses from DTC testing before reproducing? How many people who have put off visiting their doctor may be encouraged to do so from the results of their tests?  How many of these private, individual stories will we hear? In this, I can speak from my personal experience. To my surprise, my 23andMe test results showed that I am a carrier of Cystic Fibrosis. I would never have imagined my genes held that secret because nowhere in my extended family history has this disease ever made an appearance (and being a genealogist I know my family's medical history). This discovery inspired others in my family to test to determine whether they are also carriers. This is especially important knowledge for my five nieces of child bearing age. How many other families will be forewarned and, as a result, knowingly avoid tragedy. Will we ever know?

How about all of the people who are motivated to healthier lifestyle choices by finding out that they have a potentially elevated risk for a certain condition? Again, I can speak for myself in this arena. Among my risk factors are several diseases that can be combated with healthier dietary choices. Did I already know that I should be eating more fiber or green leafy vegetables? Of course I did, but there is something so intensely personal about your own DNA being the one to warn you that, somehow, you finally listen. I know that I am not alone in this.

Maybe, instead of focusing on these anticipated adverse outcomes from DTC testing, we should be asking: How many adverse outcomes may be AVOIDED as a direct RESULT of DTC genetic testing? 

The airways are blasted with commercial messages depicting smiling “patients” gardening or leisurely strolling the beach at sunset as we hear about the gruesome side effects of the drugs they are promoting. I guess its okay with the FDA to take drugs for depression because if you die from rectal bleeding from their side effects, at least you’ll die with a smile… and if your erection last more than four hours you should call your doctor because you COULD die from it, but, well, what a way to go…(and what a great marketing ploy...) So, then, it begs the question: What are the potential side effects of a DNA test? Is it that we will be given information that we are too stupid to handle? Is it that we can’t handle the information that we are given? Is it that someone – for your own good – must look at the information, interpret it, edit it, if necessary, and then decide whether or not to let us see it? Well, isn’t it good to know that someone is looking out for us … protecting us against ourselves? Or, does it sound a little too much like the Orwellian Big Brother looking over our shoulder?… OR, does it sound the most like: The business of personal genomics is predicted to become, perhaps, the most lucrative industry of this century, and we’d better make sure that we get the lion share of it…because, well, we really care about you, really, really care…?

In 2008 the AMA adopted policies opposing DTC testing (here) and said that they want to be the ones to decide who should have a DNA test and when. In the Pharmacogenomics Reporter Turna Ray reports:
The nascent direct-to-consumer genetic-testing industry has so far kept physicians on the sidelines by asserting that individuals have a right to view their genetic information, but the nation's leading physicians' group recently said that MDs should play a central role in determining when and on whom a genetic test may be performed. The American Medical Association during its annual meeting in June adopted a new set of policy recommendations that seek to heighten the role physicians play in administering genetic testing by making them the go-between separating genetic testing companies and consumers. 

Does that sound self-serving, or is it just me?

And now, finally, we have come full circle back to the reason I attended 23andMe's forum in the first place - one that I cannot ignore - Ancestry DNA testing. Personally, I feel even more comfortable with my decision to test with 23andMe for my health risks because they include my ancestry information in my profile. This functions as an unintended safeguard. As has already been demonstrated, in the rare event of a sample mix-up, the ancestry portion is what will alert us to the problem. It would be a mistake to separate these two types of tests in the process of subjecting one or both to strict regulation. Furthermore, it would be completely without foundation to enact restrictions on Ancestry DNA testing itself since it neither carries real nor imagined risks.

So, maybe the most burning question we should be asking ourselves is this: Why all of this focused attention now - from the FDA, from Congress, from the AMA, from the media? Should the decision to regulate be influenced by those who directly or indirectly benefit economically from such regulation?  Regulation may be essential to ensure quality and accuracy from the companies providing these services, but it should not infringe upon our right to directly and privately access this very personal information.

Saturday, July 17, 2010

Washington Post - Can we take the higher road?

Rob Stein's Washington Post article today was not as negative as some had feared. In fact, overall, it was fairly well balanced (especially since he let me have the last word :-) ). However, I have some real issues with its leading paragraph. Mr. Stein interviewed me about my experience with the 23andMe sample mix-up and asked me to put him in touch with others involved because, apparently, he was having a difficult time finding negative DTC testing experiences to write about in his story.

Why would a responsible journalist from one of the country's premier publications open an article about a subject that has so much promise (when we know most people never read beyond the first paragraph) with the following:

One woman panicked when the genetic test she had ordered over the Internet concluded that her son was carrying a life-threatening disorder and, even more disturbing, that he was not -- genetically -- her son. Another, who always thought she was white, was flabbergasted to find her genes were mostly of African origin. A third woman's result was still more stunning: She was a man, it said.
"I thought, 'Oh my God. Am I really a man?' " said Denise Weinrich, 48, of St. Peters, Mo. "I thought, 'What's the matter with me? I'm not who I thought I was. How am I going to tell my children?' DNA doesn't lie."

1. "carrying a life-threatening disorder"  - This is misleading. According to her post, the test said that her son was a CARRIER of hemochromatosis. Most people who read this phrase will interpret this to mean that she was told her son HAD a life-threatening illness.  23andMe reports data for two mutations in the HFE gene - C282Y and H63D. It is estimated that, respectively, 11% and 16% of Northern Europeans are carriers of these mutations and they have NO symptoms. Even for the majority of the people who actually have this disease, it is not life threatening. The choice of words is ambiguous at best and sensationalized at worst. (More info on hemochromatosis here.)

2. "flabbergasted" - This is a misstatement. I know this because the person to whom Stein is referring is my niece. He never spoke to my niece directly and I never said, nor implied,  that my niece was "flabbergasted." Actually, I expressed the exact opposite to Stein. First of all, I told him that when she initially called me about her test, she very matter-of-factly stated, "My genes are most similar to a Nigerian" with, surprisingly, little reaction.  Secondly, I told Stein that I immediately informed my niece that it was a mistake, so there was never any real question of whether she was actually African genetically.  How he got "flabbergasted" from that, I do not know.

3. Denise Wienrich - Her experience has been an overwhelmingly positive one, so why must it be portrayed in the worst possible light? Here is what she wrote to me via email this morning,

"This is so sad....95% of what I said was how thankful I am for the testing...Told the story of my adopted children and the 30+ Guat(emalan) kids who also tested with 23andMe. How I would never want DNA testing regulated because it would be hard to do for cash strapped adoptive parents, etc.  

No wonder people complain about the interviews they give to reporters."  (bold mine) 

This entire debate flared up because of a lab mistake which led to the accidental reporting of misleading data in the very complex world of personal genomics. Why insist on opening the article with an ostensibly intentional and misleading statement in what should be a very simple exercise in reporting the facts – journalism? Here we are at the cusp of something widely recognized, even by its critics, as holding the potential of becoming one of the largest revolutions of health care in history - personalized genomics.  Can’t we take the higher road?