Monday, February 28, 2011

A Success Story and The Randomness of Autosomal DNA Inheritance

While working with 23andMe's ancestry tools this week, I came across what I think is a really good example of the randomness of autosomal DNA inheritance.

I was contacted by one of my predicted 5th cousins who informed me that his closest match on Relative Finder is my mother's first cousin V.  According to 23andMe, they share .73% of their DNA with four matching DNA blocks, varying in size from 5 cMs to 37 cMs, 55cM total. This amount of shared DNA would imply that they are 3rd cousins, as it is just under the expected percentage of .781.

We were able to determine that he and Cousin V are 4th cousins once removed and he and I are 5th cousins. Our common ancestor couple are my (and his) fourth great grandparents Maria Latva-Jussila (1792-1865) and Yrjo Keski-Koski (1792-1861) from South Ostrobothnia, Finland.

Upon first analysis, it appears that this new cousin is more closely related to Cousin V, however that would also mean that he is more closely related to my mom and to me too. My mother and V share exactly the same Finnish ancestors and are of the same generation with no other ancestral lines in common. However, he only shares .14% with my mother (10cMs), a little bit less than what would be expected for fourth cousins, which they are (once removed). He shares about the same with my mother's sister and none with my sister who is his 5th cousin. He also shares the same (.14%, 10cMs) with me and another of our relatives who is his fifth cousin once removed. Further, my mother and I don't share any of the same blocks of DNA that he shares with Cousin V and my aunt only shares one of the same small blocks and another small unique one. To me this all clearly demonstrates just how random DNA inheritance really is.

He and Cousin V's relatively large amount of common DNA must be chalked up to a genetic fluke. They just happened to inherit more of the same DNA from the same ancestors than would be expected on average. I would like to believe that they are also related through my mom's and Cousin V's grandmother's unknown line, but if they were, then we would ALL have more DNA in common with him, not just Cousin V.

On another note, I am very happy to have found a documented cousin using Relative Finder. Those have been too few and far between in the last year. From my experience and from what I hear from others, it looks like that may be starting to change. Let's hope the recent successes finding the common ancestor from Relative Finder matches continue and multiply.

Saturday, February 26, 2011

Interview with Your Genetic Genealogist - Broadcast to over 50 million Japanese households

They came all the way from Japan to interview a handful of people from Stanford, Illumina, the FDA, the American Society of Genetic Counselors guessed it,  me!  :-)

Earlier this month producers and crew from NHK Japan Broadcasting Corporation came to my home to tape a segment on personal genomics. (NHK is similar to PBS or the BBC.) The story is for a weekly news/documentary program entitled, CLOSE-UP TODAY. The entire program on one Saturday will be dedicated to genetic testing with a focus on DTC genetic testing.  As I understand it, the goal for this segment is to educate the Japanese public on DTC testing. I expect it to be a well rounded show since they were planning on interviewing the FDA, Illumina, physicians at Stanford University, a genetic testing company and genetic counselors. There will be some interviews with Japanese doctors and patients in the program as well. 

DTC genetic testing is still very rare in Japan, but there are companies starting to offer genetic tests to consumers there. They told me that the Japanese people tend to be pessimistic and give up easily when it comes to illness. In Japan, until recently, doctors and family members didn't even tell a person that he/she is terminally ill. Many Japanese people are concerned about getting a genetic test and feel they will be worried about their health all the time and get depressed if they find out they are at higher risk for certain diseases. Apparently, some Japanese physicians are also concerned about how to deal with genetic test results. The producers feel that consumers who take DTC tests need to know how to deal with their results and physicians also need to be trained to work with patients who come to them with test results. They want to encourage the Japanese public to be more positive and proactive in dealing with medical issues. 

The producers intend to show what the DTC genetic testing market is like in the US and demonstrate how Americans can be positive and proactive in dealing with test results, as well as what the experts are saying. They plan on using screenshots from my 23andMe account on air and I walked them through the large amount of health information and resources available from 23andMe. We also discussed some of the actions that I have taken due to my genetic test results.

They were here for a number of hours and we had a very enjoyable afternoon.  I don't know how much of it will make it past the editing room, but we had the opportunity to film a lot of really positive, constructive information. I, of course, could talk about this subject for hours! By the time we were finished, it seemed that all my visitors were interested in testing themselves. In fact, the director even offered to buy one of my unused 23andMe kits!

The show is scheduled to air on March 7th, but that could change depending on foreign affairs at that time. I wish I could ask all of you to watch it, but since I don't think many of my readers are in Japan, it would be in vain.  I have been promised a copy of the show and hope to be able to share it with you all at a later date.

Wednesday, February 16, 2011

FTDNA hits 5000 "likes" on Facebook and offers a fantastic discount!

This morning the FTDNA page on Facebook reached 5000 "likes" and, as promised, they are offering a one-day coupon for 40% off (for new kits only except Family Finder)). This is the best discount I have ever seen on Family Finder. It is only available for for 24 hours, so order now if you have been wanting to test, but haven't done it yet!

"Congratulations! You have earned a 40% discount any of these tests:

Y-DNA37 (now only $93.40 including shipping if ordered through a project)
mtDNAPlus (now only $99.40 including shipping if ordered through a project)
Family Finder (now only $173.40)
Family Finder+mtDNAPlus
Comprehensive Genome
Warrior Gene

Family Finder add-on to any existing kit (now only $173.40)

The coupon code is 5000FACES. This is only valid for new kits and can't be used on existing kits. Enter the code while ordering at FTDNA. It expires 24 HOURS from now!"

*Update - Kits can even be ordered through projects which already have about a $10 discount (Thanks to BarB A for the info!)

[Disclosure - My company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Thursday, February 10, 2011

FTDNA's Family Finder Gets a New Chip!

Today there was great news for the genetic genealogy world from FTDNA! They have announced that they are converting their autosomal DNA "Family Finder" test to the Illumina platform:

We are changing to the Illumina Omni platform. As part of that change, all Family Tree DNA customers who previously ordered and paid for a Family Finder test will be retested for FREE. The new microarray chip for our Family Finder test is the Illumina OmniExpress. It tests about 710,000 unique autosomal DNA SNPs.

The stated motivation for this change was "better potential for future upgrade options." On top of their customer service, as always, FTDNA has already answered many of the common questions in their new FAQs, so I will just cover the highlights:

1. 710,000 SNPs, which is approximately 200,000 more than the old Affymetrix chip
2. Free upgrade for all existing customers (those who request it will be first)
3. Those who sign up for the conversion by Wednesday, February 16th can expect results within 2 to 3 weeks, while converting the entire existing database is estimated to take 6-8 weeks
4. Existing Family Finder results will continue to be available until everyone has been converted 
5. Still $289, no subscription required
6. All currently in process and future orders will be on this platform
7. Not expected to have a significant change to current matches and/or Population Finder
8. In most cases, a new sample will not be required
9. Instructions to request the upgrade:
  a. Login to your FTDNA account. ( If you are a project administrator, you will need to log in using the kit number, not your admin account.
 b. Look for the text box that says “Message From Family Tree DNA! Family Tree DNA announces updates to the Family Finder test! Click here to sign up for a FREE conversion!”
 c. Click on the Click here to sign up for a FREE conversion! link.
 d. Complete the form to sign up.

From what I can tell, this seems to be the same basic Illumina OmniExpress chip that 23andMe is currently using, minus the ~300,000 enhanced and custom SNPs that were added to their version. Since these custom SNPs were likely chosen based on significance for health related interpretations, the ancestry portion should be quite comparable. In fact, the best part of this new development is that this will facilitate the very real potential of cross-company transfers. FTDNA has expressed their intention and desire to accept 23andMe raw data uploads for inclusion in their database, but previously was unable to offer this option due to the incompatibility of the Affymetrix chip versus the Illumina chip (lack of overlapping SNPs). This news should change that and, if the price is right, will result in a greatly increased database for comparisons. It will be interesting to see if 23andMe will also allow for Family Finder raw data transfers into their already large Relative Finder database. It would give their ancestry division a needed boost with an influx of primarily genealogically-minded individuals.

The original Illumina OmniExpress Chip was introduced in January 2010 and enhanced in March. Since the FTDNA version of the chip has close to the original's reported 733,202 SNPs, this is most likely the one that is being used.

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. 
There is a downloadable list of the 733,202 markers on the original Illumina OmniExpress Chip here. As I have noted before, I am not an expert on these chips, so I will wait until some of our more technical friends make the final call on the overlap, but I do anticipate that it will be significant.

This was clearly a good move on the part of FTDNA. I hear that in the two hours after the announcement (starting at 10:30am) the number of people who requested to convert to the new chip was nearly 1,500 and was up to 2,000 by 5 pm.

Things just keep getting better and better for genetic genealogy!

[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.]