Tuesday, September 24, 2013

Genealogy Roadshow: Nashville

Last night the Genealogy Roadshow premiered with a stop at the Belmont Mansion in Nashville. 

GENEALOGY ROADSHOW is an engaging, innovative program that reveals the bigger picture of our nation’s past, present and future,” said Beth Hoppe, Chief Programming Executive and General Manager of General Audience Programming for PBS. “With a diverse mix of stories in each episode, GENEALOGY ROADSHOW appeals to Americans interested in learning about their family histories. It also shows that no matter one’s heritage and background, everyone has a place in history.

This is the first of four stops around the country. Next Monday the Genealogy Roadshow will visit Detroit. Following weeks will feature stops in Austin and San Francisco. The program airs at 9:00 PM (8:00 Central) on Monday nights on your local Public Broadcasting channel (PBS). For now only four segments have been filmed.  

The the first segment was fast paced -- almost too fast at times -- so that the stories of many everyday folks could be explored in one hour. Historical background segments were interspersed. No genealogy researcher can know too much history. 

If you missed the first episode or you want to view it again to soak up all the details, you currently can view it online.

Thursday, September 12, 2013

Legal Aftershocks Follow Myriad Genetics

If you have taken an autosomal DNA test at 23andMe, you know you have health related information available as well as family history information. It is this dual approach of enabling us to read the information in our cells that drew many of us to 23andMe.

Gene by Gene, the parent company of Family Tree DNA (FTDNA) also explores health information but through other subsidiaries. This business model can give a clearer focus on two sometimes disparate customer bases. The segregation of FTDNA from the health related activities of its parent company was in part a calculated strategy to protect direct to consumer (DTC) genealogy tests from the regulation of the Food and Drug Administration (FDA). As late as a couple of years, it looked like DNA testing for genealogy might get swept up in a push to keep DTC DNA kits from being sold at Walgreens. Some of you remember the aborted attempt by Pathway Genetics to sell kits over the counter for $20 back in 2010. The analysis of your spit was to cost extra. By the time the FDA finished "‘discussing’ legal issues with Pathway Genomics", the project was shelved. These discussions included whether or not the kit should be considered a "medical device" and therefore falling within the purview of the FDA. 

In June of this year the Myriad Genomics case was decided by a strangely unanimous Supreme Court. Did this make our genes free at last? Not so fast. Myriad was quickly back in court. The company's new legal thrusts were chronicled a few days ago by The Legal Genealogist. Dr. D is in complete agreement with every comment Judy Russell made in that well reasoned post. 

June 13th Myriad issued a press release with the technically correct but possibly misleading heading -- “Supreme Court Upholds Myriad's cDNA Patent Claims”. In that release Myriad stated,
BRACAnalysis testing is widely reimbursed by private insurance companies, Medicare and Medicaid. As a result of the Affordable Care Act, the vast majority of at-risk patients can receive BRACAnalysis testing with no out-of-pocket costs — meaning no co-pays or deductibles.
Somehow it doesn’t sound any better to me for Myriad’s artificially high prices to be paid for us by Medicare, Medicaid or our private insurance. Indirectly, this is paid by all of us.

Those of us who have spent considerable part so our lives on the West Coast know that when there is a large seismic event, it is followed a number of aftershocks before a new equilibrium is achieved. Such is true in the legal world as well.   

All this legal wrangling is about much more than BRAC1 and BRCA2. It is about all the right to read all the medically significant information in our cells. Did you know that you may already have health information available at FTDNA also? You do if you have had the full mtDNA test. This is why, with an abundance of caution, FTDNA does not automatically disclose to project administrators the detailed results beyond the HVR1 and HVR2 levels. Although our mitochondria have not yet been determined to carry much health related information, they do give important indicator about one fairly rare condition -- aminoglycoside-induced deafness. Some widely prescribed antibiotics can cause deafness -- often permanent in patients who carry the A1555G mutation. Research studies often exclude this gene from their panels because of the patents claimed by Athena Diagnostics. This includes large scale studies to correlate patient outcomes and drug reactions such as Vanderbilt's PREDICT project in which Dr D and his wife are participants.

Recent studies in China suggest that a C1494T mutation in the mitochondrial 12S rRNA Gene also play a role in maternal inherited aminoglycoside-induced deafness and also hypertension. If you have the results of full mtDNA tests, you already have been tested for these mutations. 

The future of you health and its cost may be affected by the current legal battles. I urge you to inform your self and defend your right to read your own genes at a reasonable cost. Join the Free my Genes movement!


Friday, September 6, 2013

Where is Genetic Genealogy Going? Who is Driving the Agenda?

Several indicators suggest the genetic genealogy marketplace is in a state of flux. So what else is new?

What impact will the departure of Thomas and Astrid Krahn from FTDNA have on the company’s commitment to further explore the Y-chromosome? This is a particularly interesting question at a time when FullGenomes is on the verge of having actual customer results from its pricey first round of tests of the full Y-chromosome.
After the dust clears from the separation of Anne Wojcicki from Sergey Brin, it appears likely that 23andMe will not be seriously affected. Even though it is Anne’s company, it has been Sergey’s billions and Parkinson’s gene that have been the driving forces behind this company’s growth.
DNA testing has not been incorporated into any of the first seven segments of Who Do You Think You Are? Ancestry is a principal sponsor and the company's databases are prominently featured in most episodes. If it is Ancestry’s business plan to grow the DNA side of its business, this is a strange way to go about it.

Not to be left on the sidelines, Geno 2.0 apparently is fine tuning its marketing focus. Emphasis on the sale of its public participation kits will be concentrated in the English speaking world which in general is already to most tested part of the world.

Regional commercial ventures are springing up in various parts of the UK.

All of this makes it clear that our agenda is being set by commercial entities. That’s not bad. We would be nowhere without the framework they have created. Most of us do not want it to be set by various world governments which may be the primary alternative to the free enterprise system.

Where do you want our community to go in the next decade? Probably the next six months is a more reasonable time frame for a business plan in this marketplace. Or is it? How can we as consumers, both individually and collectively, best communicate our ideas – dare I say dreams – as to where we want genetic genealogy to move next? Does ISOGG have an opportunity for a more proactive role? Are there other venues for this discussion?

Sunday, September 1, 2013

Solving A Mystery With Women's DNA

Many still believe that only male DNA is useful for genealogical purposes. They need to wake up and smell DNA developments of the last 3 years. I recently helped a woman unravel an old mystery in her family using her autosomal and mitochondrial DNA test results. I will call her "Allyson" to protect the guilty dead and the living innocents. Here are some of the facts:

  • The adopted daughter of Allyson’s great aunt was thought to be a family member;
  • This adoptee was born in the 1920s;
  • The adoptee’s daughter, who I will call "Bertha", is alive and has taken a mitochondrial DNA test and a Family Finder autosomal DNA test at FTDNA.

Speculation within the family included:

  • This adoptee was the result of an illicit coupling of Allyson’s grandmother and her ex-husband long after their divorce;
  • This adoptee was the result of a teenage fling of Allyson’s mother.
  •  Allyson also has taken both a mitochondrial DNA test and a Family Finder autosomal DNA test at FTDNA.

The Mitochondrial DNA results:

Mitochondrial DNA is more definitive in ruling out potential relationships than in proving them. Their results could have ruled out Allyson’s mother and grandmother as potential mothers for Bertha’s mother. However, Allyson and Bertha are exact matches over all 16,569 locations on their mitochondrial DNA. They are the only exact matches for each other currently in the database. This means that the two share a direct maternal line (umbilical cord) ancestress probably within genealogical time. FTDNA says that such a match has a 50% probability of a common direct umbilical cord line ancestress within 5 generations and a 95% probability of a common direct umbilical cord ancestress within 22 generations. In this case the results do not prove how close the common ancestress actually lived, but they do add some credibility to the belief that this was an adoption within the family. Based on this result some hypotheses were formulated.

Research Hypotheses: 

#1. Bertha’s mom was the biological daughter of Allyson’s maternal grandmother and grandfather; 

#2. Bertha’s mom was the biological daughter of Allyson’s maternal grandmother and some unknown male – at least unknown to us; 

#3. Bertha’s mom was the biological daughter of Allyson’s mom and some unknown male.

No hypothesis was defined to include Allyson’s mom AND dad being the biological parents as existing letters clearly document that they did not meet until a few years after the birth of Bertha’s mother. On the other hand it can be documented that Allyson’s maternal grandmother and grandfather remained in contact long after their divorce.

Dick Eastman has famously blogged that there is no such thing as a ½ cousin. He quoted the venerable Black’s Law Dictionary to support his assertion. Well Dick, we would never be able to solve some of our genealogical mysteries unless we are able to split some cousins and other relatives in this manner.

If we want support for hypothesis # 1 above, we would need to find evidence that Allyson and Bertha could be 1st cousins. To support hypothesis # 2 above, we would need to find evidence that Allyson and Bertha could be ½ first cousins. If hypothesis # 3 above is correct Allyson would have a ½ aunt relationship with Bertha. In these three cases Allyson and Bertha would be expected to share either about 12.5% (1st cousins), about 6.25% (½ first cousins) or 12.5% (½ aunt). These percentages can be derived from the chart on the ISOGG Wiki: 

Cousin tree (with genetic kinship)

Relation with Adoptee’s Daughter “Bertha”
Maternal Grandmother is mother of Adoptee
Allyson’s Mother is mother
Maternal Grandfather is Father
Hypothesis #1
Maternal Grandfather is not Father
Hypothesis #2
Allyson’s father is not Father of Adoptee
Hypothesis #3
1st cousin—12.5%
Half 1st cousin—6.25%
Half Aunt—12.5%
Male Cousin
1st cousin—12.5%
Half 1st cousin—6.25%
Half 1st cousin-once removed—3.125%
Female Cousin #1
1st cousin—12.5%
Half 1st cousin—6.25%
Half 1st cousin-once removed—3.125%
Female Cousin #2
1st cousin—12.5%
Half 1st cousin—6.25%
Half 1st cousin-once removed—3.125%

 Expected % of Shared Autosomal DNA 
for each Hypothesis

Oops! Using the autosomal data at hand we would not be able to distinguish between hypotheses 1 and 3. The expected amount of shared DNA would be the same in both cases. Fortunately there are three living 1st cousins of Allyson who might be willing to test. Two are female and one is male. In this case their sex would not matter because we have already established the maternal haplogroup of the adoptee. All we would need is their autosomal matches with Allyson and Bertha. These cousins would not add to our ability to distinguish between options #1 and #2 because their amounts of DNA shared with Bertha should mirror those of Allyson in both cases. Both Allyson and each of the 3 cousins should be shown to be 1st cousins with Bertha in #1 and ½ first cousins in # 2. So no increase in diagnostic ability is gained by collecting DNA from the 3 additional cousins.

But wait! We do not need them to help distinguish between #1 and #2. We might need their test results to differentiate between #1 and #3. Great! While Allyson would be a ½ aunt (sharing about 12.5%) in #3, the other 3 cousins would only be ½ 1st cousins (sharing about 3.125%) a significant difference. So it looks like it may be possible to collect enough information to solve this mystery.

The Solution:

Actually, it turned out to be quite a bit simpler than all that. As we saw much earlier in this saga, FTDNA predicted that Allyson and Bertha were 1st to 2nd cousins. For our purposes that is quite an extensive range. If they share matching segments that would be expected of 1st cousins, they would also share the amount Bertha would expect to share with a ½ aunt. But that is not the amount they share. They only share about ½ that amount. In this case it would have been easier to determine this if Allyson and Bertha had tested at 23andMe rather than FTDNA since the former reports matches in terms of % of match. FTDNA reports it in terms of centiMorgans (cMs) and SNPs matched. Although there may be handy conversion tables to translate these into % of match, Dr D had difficulty finding one. But he did find this one posted by Lindsay in her blog Confessions of a Cryokid:

According to Matt Dexter, on the FTDNA Forum, here is a breakdown of sum shared DNA ranges for various relationships:
  • Parent/child: 3539-3748 centimorgans (cMs)
  • 1st cousins: 548-1034 cMs
  • 1st cousins once removed: 248-638 cMs
  • 2nd cousins: 101-378 cMs

Although this table turned out to be very useful, it was compiled over 2 years ago. In autosomal DNA testing time that was almost light years ago. We now have tens of of thousands of more results that should have expanded our databases. Dr D would expect a currently compiled breakdown to show more overlap between the categories. 

Once the table in Lindsay's blog post was found, it showed that the 428.42 cMs shared between Allyson and Bertha were well within the expected range that would be expected for a 1st cousin-once removed relationship.

But 1st cousin-once removed is not one of the expected outcomes in the hypothesis table above. Or is it? Isn't it the equivalent of a ½ first cousin? I think we have a winner! The hypothesis that best meets the autosomal results is #2. The most likely biological parents of Bertha's mom are Allyson's maternal grandmother and an unknown male. Allyson's maternal grandfather seems to be ruled out as the biological father of Bertha's mother. Although testing additional cousins might lead to greater certainty, that does not appear to be necessary to identify the most likely candidate to be Bertha's grandmother.