Are Your Genes Still Free?

It gets murkier and murkier. The day after the Supreme Court ruled that natural human genes could not be patented, Gene by Gene [and perhaps Ambry Genetics] started offering BRCA1 and BRCA2 testing for $999. Myriad Genomics had been offering it for  about $4,000. Great news for womankind. But now Myriad has sued.

“If [Ambry and Gene by Gene] are proved wrong, and I think they will be, it will be at the expense of women who want to be tested,” Gold said. “It’s legal, but not ethical.” For Professor Gold's comment in context read the full story in Wednesday's The Daily Pennsylvanian.

Dr. D agrees with Ambry Genetics' claim that our genes should be free to express their vital information:

Although that expression cannot be free (as in no cost); it should not be restricted from most women because of artificially high pricing. 

I at least partly agree with Professor Gold. I am not a patent lawyer. I am also not a geneticist. Therefore, I do not claim to understand all the legal and biological intricacies of this current law suit. I don't have an opinion as to whether of not patent law gives Myriad a legal leg to stand on. However, I strongly believe that Myriad's position is not ethical. Not many women can draw on the financial resources Angelina Jolie could draw on when she had to make a potentially life or death decision. However, they still need access to the most relevant information their body can give them before they make that decision.

Disclosure: I am an unpaid volunteer manager for two surname DNA projects hosted at Family Tree DNA (FTDNA). FTDNA is a subsidiary of Gene by Gene. FTDNA is one of four genetic genealogy labs through which I have tested my own DNA. I have no financial interest in any of these companies.

Stanford Medical School Teaches Genomics

Stanford University School of Medicine is researching the most effective methods to teach fundamental genomics. It turns out that one activity that boosts mastery of course content by 31% is something many of you have done already. It was to test their own genome and use the results in the course. This result was published June 23rd week in an article entitled "Evidence That Personal Genome Testing Enhances Student Learning in a Course on Genomics and Personalized Medicine". The abstract said in part:

An emerging debate in academic medical centers is not about the need for providing trainees with fundamental education on genomics, but rather the most effective educational models that should be deployed. 

We hypothesized that use of personal genome testing in the classroom would enhance the learning experience of students.

Undergoing personal genome testing and using personal genotype data in the classroom enhanced students' self-reported and assessed knowledge of genomics, and did not appear to cause significant anxiety.

Just three years ago it was reported in Inside Stanford Medicine that:

The question of whether to offer personal genotyping to students has undergone a yearlong, vigorous debate by a medical school task force.... Although not all task force members favored such a class, a majority recommended its adoption. School officials agreed. 

This is a positive step forward in bringing the future physicians into the age of personalized genomic medicine.

The question of whether to offer personal genotyping to students has undergone a yearlong, vigorous debate by a medical school task force, with course organizers addressing concerns that were raised by members of the group. - See more at: http://med.stanford.edu/ism/2010/june/genotype.html#sthash.fVAKPxLz.dpuf

I

The question of whether to offer personal genotyping to students has undergone a yearlong, vigorous debate by a medical school task force, with course organizers addressing concerns that were raised by members of the group. Although not all task force members favored such a class, a majority recommended its adoption. School officials agreed that the course should be offered, given the numerous safeguards built into the curriculum by the organizers. - See more at: http://med.stanford.edu/ism/2010/june/genotype.html#sthash.fVAKPxLz.dpuf

The question of whether to offer personal genotyping to students has undergone a yearlong, vigorous debate by a medical school task force, with course organizers addressing concerns that were raised by members of the group. Although not all task force members favored such a class, a majority recommended its adoption. School officials agreed that the course should be offered, given the numerous safeguards built into the curriculum by the organizers. - See more at: http://med.stanford.edu/ism/2010/june/genotype.html#sthash.fVAKPxLz.dpuf

The question of whether to offer personal genotyping to students has undergone a yearlong, vigorous debate by a medical school task force, with course organizers addressing concerns that were raised by members of the group. Although not all task force members favored such a class, a majority recommended its adoption. School officials agreed that the course should be offered, given the numerous safeguards built into the curriculum by the organizers. - See more at: http://med.stanford.edu/ism/2010/june/genotype.html#sthash.fVAKPxLz.dpuf

Walk of Death a Good Read

Walk of Death by Mike Tabor is billed as a forensic novel and it is every bit that. Mike has been since 1983 the Chief Forensic Odontologist for the State of Tennessee Office of the Medical Examiner. In his day job, he is a dentist. Mike’s father lives in our continuing care retirement center here in Nashville. According to the publisher’s blurb:

In the spring of 1997, two rural Tennessee addicts find themselves under investigation for dealing crystal meth. Together, they concoct an ill-conceived plan to outrun the law, letting nothing stand in their way. Murder, insurance fraud and switched identities are only the beginning of a cat and mouse mystery that leaves an unidentified murder victim in their wake.

As the case goes unsolved, Dr. Chris Walsh, Chief Forensics Odontologist of the Tennessee Medical Examiners office sets his sights on identifying the nameless victim and solving the gruesome crime.

Fact and fiction collide in this intricate and chilling story by first time author Dr. Mike Tabor. Culled from real case history, Tabor leads the reader on a journey that takes them from the world famous Body Farm in Knoxville, TN to the site of World Trade Center terror attacks and the identification of nearly 1000 victims.

Intrigue, drama and edge-of-your-seat suspense help make Walk of Death an exciting and frightening read that rivals some of the best crime dramas ever published.

The author says the book is about 75% fact and 25% fiction and the story is largely autobiographical. One element of the fiction part is that the names of the characters have been changed to protect the _____. Only the dogs were allowed to keep their real names. This combination works to create a gripping true crime forensic docudrama which has rich character development of both the good guys and the bad. 

    

I’m sure most of the regular readers of this blog will enjoy the book. When fingerprint identification fails because of the condition of the corpse, dental records usually fill the breach if they can be located. Teeth can provide up to 5 to the 32nd power combinations for identification. That is a very big number. But what happens when dental identification also fails? I won’t say more because I don’t want to give the ending away -- except that you may want a hankie handy for the conclusion. 

Genealogy Shows

I hope you watched the first episode of Who Do Your Think You Are? last night on The Learning Channel. It featured Kelly Clarkson. Seven episodes will follow this summer. If you can’t get The Learning Channel or missed this episode for other reasons, you soon should be able to view it online. However, last night's episode does not seem to be working correctly yet. It was just loaded and only plays for a minute or two. I don't know if the site is overloaded or there is some other problem. In the meantime you can enter the sweepstakes to win a Trip to the Motherland.by answering a question based on that first episode. If you saw it what do you think about that episode?

Next week Christina Applegate will be the featured celebrity. 

Soon after WDYTYA completes its eight week run in September, genealogy junkies will be treated to the latest import from Europe -- this time from Ireland. Genealogy Roadshow will kick off a four week run on Public Television on September 23rd at 9:00 PM (8:00 Central). While WDYTYA traces its pedigree back to England and BBC, Genealogy Roadshow is patterned after the RTE show now beginning its second season which features the genealogical quests of ordinary people. 

Henry Lewis Gates is working on a new series as well; but I have yet to see a release schedule for it. Hopefully we will get to watch it in 2014.

Kelly Clarkson Leads Off Who Do You Think You Are?

It's time to mark your calendar and/or set your DVR to watch the first episode of the new season of Who Do You Think You Are? This season 8 episodes will air on the The Learning Channel. Kelly Clarkson will be featured in episode 1. The producers are aiming for a younger audience in their choice of subjects. It will be interesting to see how much content can be included in the new half-hour format. Episode 1 will air Tuesday, July 23 at 9 PM (8 PM Central).

This season's full lineup of celebrities is listed below:

If you should miss an episode, after they air they can be watched online.

If you want to see non-celebrities featured in a show like this, watch for "Genealogy Roadshow" coming in September on Public Television.  

Which Autosomal DNA Test Should You Take?

The DNA testing marketplace continues to evolve rapidly. What would cost about $400 just 3 years ago can now be purchased for about $99. It is hard to imagine that this level of price cutting can continue. But wouldn't it be nice for us DNA junkies if they could? Not only could we take more tests. Many more potential cousins would add their information to DNA databases.

Until FTDNA's just announced Sizzling Summer Sale, it was cheaper to take 23andMe's test at $99 and then transfer your downloaded raw data to FTDNA at $69 than it was to pay full $289 for Family Finder. Now that FTDNA has (at least for the next few weeks) reduced Family Finder to $99 this economic incentive may not be as strong. However, starting with 23andMe and transferring your data allows you to fish in both databases for cousins. It also allows you to take advantage of the analytical tools of both companies AND the health related information of 23andMe. FTDNA allows 3rd party transfer from Ancestry's autosomal data as well.

However, FTDNA is the only company that accepts raw data from another lab test. It also is the only one that is now storing DNA samples for future testing. This can only be taken advantage of if FTDNA was the original tester of your sample. This is particularly important when the person being tested is elderly so that their sample is available for tests that may become available in the future. 

When you are on a limited budget, you need to weigh what you may learn from further analyzing your own genome vs what you potentially could learn from testing another family member. Y-DNA testing of a sibling (male) will generally give identical results as those of the first brother tested. With mitochondrial DNA testing this is true for siblings of both sexes. However, with autosomal DNA testing sibling testing does not give identical or near identical results. In general siblings share about 50% of their autosomal DNA. However, they can range from as low as 37% to as much as 63%. This is not critical if one is trying to match 2nd cousins or closer relatives. It does start to matter when one is seeking to find 3rd cousins or more distant relatives.

When fishing for cousins in any company's database, you and any of your siblings will be almost certain (more that a 99% chance) to match a 2nd cousin. At the 3rd cousin level your chances (and those of a sibling) for matching someone in a given database are about 90%. At this level of cousinhood it is still likely that you will be matching most of the same individuals that your siblings match. However, at the 4th cousin level, you and each of your siblings will have only about a 50% chance of matching a particular individual in the database who is in fact a cousin. Your match list and those of your sibling(s) will start to vary considerably. At the 5th cousin level and more distant very significantly. Each of you will match with about 10% to 15% of your actual cousins in the database but many of them will be different individuals. Beyond 5th cousins you will still get lots of matches because you have so many cousins at this level. However, you (and a sibling) will each have a less that 2% chance of matching a particular cousin in a database. 

Since the matching efficiency declines down this slippery slope with each generation, it is important to test the oldest possible member of your family for best autosomal results. This is only marginally true with Y-chromosome or mitochondrial DNA testing.

All of this is important to keep in mind when you are allocating your limited dollars and deciding which test to take AND which family member to test. 23andMe currently offers $20 off additional test kits when they are ordered at the same time. 

Happy testing and may you find lots of new cousins!
         

Supreme Court Gives Us Ownership Of Our Genes

By now you have probably heard about yesterday's US Supreme Court decision in the case of AMP v. Myriad Genetics. In that decision a unanimous court ruled that corporations could not patent a naturally occurring human gene even if they discovered its location in the human genome. The ACLU, which had brought the case to the court, used the following image to declare victory.

ACLU Facebook post

That was a huge victory for those of us who are optimistic about the promise of personalized genetic medicine in which our own particular genetic make up is used to both diagnose and tailor treatment of our human disorders.

After the decision was announced Myriad made a statement that other patents that it owned would maintain its position. These would include its proprietary database that allows Myriad to interpret the results of its BRCA testing. All of us who have taken genetic genealogy seriously have learned that that DNA results, taken by themselves, have little meaning. It is only when these results can be compared with a large number of other results can meaningful interpretations be made. 

Fortunately Myriad's statement, while perhaps technically correct, is somewhat misleading. Other labs are already stepping forward to offer alternatives to Myriad's monopoly supported pricing. What Myriad was charging about $4,000 for is now available at the drastically reduced price of $995 at a respected and accredited laboratory. Thanks to CeCe Moore, Your Genetic Genealogist for the heads up about the announcement of this breakthrough in affordability. 

In a press release picked up by the Wall Street Journal, the Houston based company Gene by Gene announced the availability of BRCA testing in the US that it had previously only been able to offer abroad. Many of you are already customers of Gene by Gene through its Family Tree DNA (FTDNA) tests for family history information.

The developments of the last two days make BRCA testing much more affordable and probably is only the beginning of what competition in the marketplace will do to make genetic testing a routine part of our medical care.

Thank you to the US Supreme Court for allowing us to own our own genes!


Disclaimer: Although Dr D coordinates two Y-chromosome surname DNA projects based on results from FTDNA, he has no financial interest in the company.

Autosomal DNA Transfer Sale

FTDNA has announced a limited time sale of transfers of your autosomal DNA test results from 23andMe (Relative Finder) and Ancestry. The advantages of so doing are primarily to allow you to "fish in another pond" for potential cousins who have tested at FTDNA but not at the service at which you have already tested and to be able to compare your all your matches with FTDNA's analysis tools. If you already have Family Finder results, you will gain only a very minimal benefit from such a transfer. Note below that earlier versions of 23andMe's Relative Finder test are not compatible with the upgrade process.

Autosomal DNA Transfer  was $99.00   now  $49.00

 ORDER NOW

This option is available for men and women who have autosomal DNA results from a third party company that used the Illumina OmniExpress Plus Genotyping BeadChip, such as 23andMe© (known as the Relative Finder) and AncestryDNA™. You may use this option to upload your raw data to the Family Tree DNA Family Finder database to take advantage of features associated with the Family Finder product, such as relative matches and the Population Finder. This data transfer does not include any Y-DNA or mtDNA results from any company, nor does it involve the transfer of any physical DNA sample. Learn more...The $49 Introductory fee will provide you with a Family Tree DNA personal page   which will allow you to:

• View matches related within about the last 5 generations and predicted relationship ranges.*

• See percentages of your ancestral make-up from 62 world reference populations such as Native-American, Middle Eastern (including Jewish), African, West and East European.

• Confirm close relationships regardless of gender.

• Generate additional genealogical information..

Please note, uploaded files are batched once a week then run through the conversion program. Results take between 6-10 weeks based on volume. You will be notified by e-mail when your results are available.
*You will be matched with others who have also taken the Family Finder test. However, if you come from an under-represented population, it is possible that you will not find matches right away. Your matches largely depend on how your DNA compares to our database. As our database is constantly growing, we will send you e-mail notifications about any new matches calculated to be third cousins or closer.
The 23andMe© V2 test, sold prior to November 24, 2010,is NOT compatible with our Family Finder product and is NOT accepted in the Autosomal DNA Transfer.
IMPORTANT: Your results from Family Tree DNA compared to another company's results will be similar, however, they WILL NOT be exact. Due to Family Tree DNA's proprietary algorithm your matches, centiMorgan totals, and centimorgan length will vary.
ATTENTION: If you are already a Family Tree DNA customer, please log into your personal account to transfer your third party results and avoid creating a duplicate record.

YDNA Upgrade Sale at FTDNA for Father's Day

FTDNA has just announced a YDNA upgrade sale. If you or a close family member have already tested and you have been contemplating upgrading it to improve its precision, the following sale may be of interest.

Dear FTDNA Customer,   Since last summer's upgrade sale was such huge success, we thought we'd repeat history! We are offering discounts to our Y-DNA upgrade products just in time for father's day.  So, please spread the word and we'll make this year's upgrade sale even bigger!

From June 12, 2013 through June 19, 2013,  we will reduce the following prices. Y-DNA 12 to 25 was $49 Now $35 Y-DNA 12 to 37 was $99 Now $69 Y-DNA 12 to 67 was $189 Now $148 Y-DNA 25 to 37 was $49 Now $35 Y-DNA 25 to 67 was $148 Now $114 Y-DNA 25 to 111 was $249 Now $224 Y-DNA 37 to 67 was $99 Now $79 Y-DNA 37 to 111 was $220 Now $188 Y-DNA 67 to 111 was $129 Now $109   To order an upgrade at these special prices you may log into  your personal page with your kit number and password.  Click on the "Order Upgrade" button located on the  right side of the menu bar. Then click on the "Special  Offers" button. ALL ORDERS MUST BE PLACED AND PAID FOR  BY 11:59pm, JUNE 19, 2013, TO RECEIVE THE SALE PRICE.

DNA Day Presentations Live Streamed Thursday

The International Society of Genetic Genealogists (ISOGG) and the Southern California Genealogical Society (SCGS) have just announced that several presentations from Thursday (June 6th) program will be live streamed. These presentations will not be free but will be offered at a price considerably less than the price for those of us attending live. The line up is outstanding.

These pay-per-view live streams are in addition to the free live stream events previously announced by SCOG from its Genealogy Jamboree which begins on Friday. These free streams cover a wide variety of genealogical topics. Only one of these sessions is on DNA testing. 

The full announcement, released overnight, is re-posted below for your convenience.

The International Society of Genetic Genealogy (ISOGG) and the Southern California Genealogical Society (SCGS) announce that four sessions of the "Family History and DNA: Genetic Genealogy in 2013" conference will be live streamed on a pay-for-view basis and available for viewing by genetic genealogists around the world.

READ THE ENTIRE POST ON THE JAMBOREE BLOG 

"We are especially excited to be able to share four advanced-level sessions with our remote audience. We believe that these sessions will be of the most interest to those project administrators, DNA consultants and other more experienced users of DNA information," according to CeCe Moore, genetic genealogist, Southern California Regional Director for ISOGG and one of the speakers.

"The cost of $30 per individual presentation includes the session's syllabus," continued Alice Fairhurst, president of the Southern California Genealogical Society and also a speaker at the event.

"We are offering a special discount for those who purchase a Full-Day Pass at the discounted price of $100. Full-Day Pass holders will receive a digital download of the entire conference syllabus of 12 articles at no additional cost."

The sessions to be pay-per-view streamed include:

10:00 a.m. to 11:00 a.m.
Tim Janzen, MD
TH004 - "Mapping Your Chromosomes with Autosomal DNA"
This presentation will describe techniques of doing chromosome mapping and triangulation using autosomal DNA results from 23andMe's test and Family Tree DNA's Family Finder test.

1:00 p.m. to 2:00 p.m.
Blaine T. Bettinger, Ph.D.
TH008 - "Using Third-Party Tools to Analyze Your Autosomal DNA Result s"
Although DNA testing companies provide an analysis of test results, there are many third-party tools that allow test-takers to use those results to learn even more about their genomic heritage.

2:30 p.m. to 3:30 p.m.
CeCe Moore
TH010 - "Working with Autosomal DNA: Genealogical Case Studies "
atDNA holds endless potential for learning about your family history and what your ancestors may have passed on to you. Practical methods and examples from the presenter's research will be reviewed.

TH014 - 4:00 p.m. to 5:00 p.m.
Alice M. Fairhurst and David F. Reynolds
"The Changing Y-DNA Haplotree and Its Impact "
Learn how and why Y-DNA trees can differ and how the ISOGG team determines the location of SNPs on the tree. Find out how the most cutting edge SNP discoveries are unraveling the mystery of human ancestry.

To register for the $100 Full-Day Pass, use this registration link. Those who select the Full-Day Pass will receive a digital download of the complete syllabus for the "Family History and DNA" conference.

We are grateful that these outstanding genetic genealogists have agreed to shared their presentations via live stream. We hope that you will help us spread the word about this exciting program by tweet, blog post, email or even an old-fashioned phone call.

Just a few notes:

Readers who are familiar with the SCGS Jamboree Extension webinar program  will ask whether these sessions will be available in the Members-only website archive. The Bettinger and Janzen presentations will not be available at the speakers' request. The Moore and Fairhurst/Reynolds sessions will be placed online in Q3 2013.

One other note: Jamboree is offering live-streamed video  of several of the sessions on Friday, Saturday and Sunday. Thanks to the sponsorship of Ancestry.com, these sessions are offered FREE of charge. One of the sessions on Friday is the DNA Ask The Experts Panel Discussion with Joanne Mountain, PhD from 23andme; Ken Chahine from AncestryDNA; Bennett Greenspan from Family Tree DNA; CeCe Moore and Alice Fairhurst.

This is an outstanding opportunity to view and learn without having to travel to "Beautiful Downtown Burbank."