Genetic testing: Affordable vs future research

In the wake of a Federal court’s ruling last week against a Utah company holding patents for BRCA1 and BRCA2, Tracing the Tribe has some questions.

On the plus side, Tracing the Tribe believes that companies now wishing to provide lower-cost, more affordable, genetic testing will be able to do so – eventually – although legal experts believe the case will land in the Supreme Court.

Note that Tracing the Tribe is not talking DNA genetic genealogy testing, but rather testing for specific genetic conditions/diseases. The questions are relevant because some patent holders charge high fees for those tests, restricting affordable access to those who may want or need those tests.

Please chime in here, dear readers:

(1) Should genetic testing for specific conditions/diseases be made more affordable and accessible, e.g. low-cost, to everyone?

(2) Should high fees be demanded of those wishing to test – to provide financing for research on those conditions.

(3) Who owns your DNA? (according to this case, it isn’t the DNA patent-holder).

(4) Because this is a Jewish genealogy blog, Tracing the Tribe is well aware that when Tay-Sachs testing (a tragic, nearly fatal by age 3, neurological disease) went worldwide, the incidence of its occurrence dropped by some 98%. This was due to widespread, affordable, accessible testing across the Jewish world. There are many other genetic diseases impacting mostly those of Jewish heritage. Shouldn’t those families have affordable access to lower-cost testing?

According to paper, the DNA industry is waiting to hear the reaction to the ruling .

Scientists and health advocates sued Utah-based Myriad Genetics, which held patents for two genes, BRCA-1 and BRCA-2, linked to breast and ovarian cancers. The groups alleged that the patents were improper because the DNA was a natural substance in the human body. The federal judge sided with the plaintiffs, invalidating parts of the patents.

Ken Alltucker’s article says that researchers and companies are interested because the ruling could impact many other genes.

The ruling is critical because an estimated 20 percent of human genes have been patented. Companies launched based on those patents, with investors betting that companies could profitably develop drugs or devices targeting an individual’s unique DNA.

But critics argue that such patents stymie research. Scientists often are required to get permission from the gene patent holders before using the information for research. Some companies even charge fees to use them.

The story quoted Arizona BioIndustry Association president Robert Green:

“The key in biotechnology is you have to raise a lot of money to get to the cure and get to the product. You can only raise that money if investors know you have some patent protection. If you don’t have that, there is no incentive for people to invest in these risky technologies.”

Some 20% of human genes have been patented, according to the story. Investors betted that companies could develop drugs or devices based on a unique DNA.

DNA: Disease analysis or genealogy?


According to a New York Times article, analyzing DNA for disease risk isn’t as popular as its providers thought it might be.

There’s a big difference between those consumer segments who participate in genetic genealogy testing rather than disease analysis.

Andrew Pollack’s story focused on 23&Me but also mentioned Navigenics and DeCode Genetics, in the article which discussed the lack of paying customers and small numbers of paying customers.

Connected to Google by both love and money, 23andMe seems the epitome of a 21st-century company — a cutting-edge merging of biotechnology and the Internet, with a dash of celebrity thrown in.

The scarce ingredient so far is customers.

23&Me is the most prominent, founded in 2007 by the wife (Anne Wojcicki) of Google’s cofounder Sergey Brin. It launched with celebrity “spit parties” to market personal genomics services. Individuals’ DNA is scanned and promises to provide the risks for developing many diseases.

However, 23&Me has gone through two series of layoffs (from 70 to 40 employees). According to the story, it has only 35,000 customers and about 25% were tested for free or $25. Normally the teats run from $300-2,000. The other two companies mentioned have even fewer customer.

Professional geneticists call it a “wonderful form of recreation,” but that its practical value is “premature.”

On its third CEO in a year, Navigenics has had layoffs and now sells to doctors and corporate wellness programs instead of the public. Insiders say there are only about 20,000 customers, and 5,000 received large discounts to participate.

DeCode Genetics only attracted fewer than 10,000 customers to its personal genomics service, and went through bankruptcy.

Read the complete story at the link above for more.

Melbourne: The conference opens

Although Melbourne suffered from a 100-year rain, with flooded streets, damaged and leaking roofs, hail (from marble-size to much larger!), nothing stopped these intrepid genealogists from arriving at the Beth Weizmann community building in Caulfield South.

Sallyann Amdur Sack-Pikus gave the keynote address and focused on “Jewish Genealogy: Past , Present and Future,” as she detailed the history and growth of Jewish genealogy in the US and worldwide.

After a coffee break, I was up next with our “Iberian Ashkenaz DNA Project: So You Think You’re Ashkenazi.” It generated many questions and people were talking to me all day about their family’s stories. The point was to raise awareness of the possibilities and it certainly seemed to do just that.

I hadn’t known previously, but I was to lead a Sephardic SIG group next, with another group of interested people with even more interesting stories to tell and questions to be answered.

Following lunch (complete with felafel, potato salad and the rest), I then presented “The New Technology Frontier: Social Networks and Blogging,” which also encouraged questions and comments, as I covered Facebook, Twitter, Blogging and genealogy social networking sites. Several people at the session and ater during the day mentioned that their trees had been hijacked at Geni.

There were several concurrent sessions. I attended Jenni Buch’s Belarus session and Peter Nash’s excellent “China: Resources for Family Research,” which offered some rather amazing sources discovered by Peter. Attending Peter’s talk was our new friend Helen Bekhor of Melbourne, whose Sephardic family – originally from Baghdad – was interned by the Japanese in Shanghai. Peter attended the Kadoorie School in Shanghai and it sounded like they knew some of the same people way back then. Rieke Nash’s session on JRI-Poland was next.

What I missed: Krystyna Duszniak’s “Unearthing the Polish Past by Necessity: The Historica Journey to a Poish Passport,” Todd Knowles’ “British Holldings of the Family History Library,” Daniela Torsh’s “Finding Hilda: An Austrian Genealogy Story,” and Prof. Martin Delatycki’s “Genetic Disease Among Jewish People.” There were also SIG groups on researching early Australia, German research, Hungary and the Netherlands.

In the evening, a reception was held at the nearby Glen Eira Town Hall, complete with wine, sushi and more. A moving address was given by the young mayor, Steven Tang, who described his trip back to Poland and search for his mother’s Jewish roots, as well as his father’s Chinese roots. Awards were given to hardworking society members.

The society lost some time ago one of its major movers and shakers – Les Oberman – a good friend of mine. A meeting room was dedicated with a plaque bearing his name.

Ziva Fain and I are now out the door to day two of the conference.

Photos and more will be posted tonight.

Maryland: Ashkenazi genetics, March 7

Gary Frohlich will present “Whatever you wanted to know about Ashkenazi Jewish diseases,” at the next meeting of the Jewish Genealogical Society of Greater Washington, on Sunday, March 7.

The program is at B’nai Israel Congregation, in Rockville, Maryland. It begins at 1pm with networking, registration and a business meeting. Frohlich’s talk begins at 2pm.

A certified genetics counselor, he is senior medical affairs liaison for Genzyme Therapeutics.

The goals are to discuss the “founder effect” among Ashkenazim and learn about 11 common genetic conditions. According to Frohlich:

“During the Crusades, many Ashkenazi Jewish communities were driven from England, France and Germany and migrated to eastern Europe, settling primarily in modern-day Poland, Lithuania and Russia, Ashkenazi Jews tended to select marriage partners from within their own community, which played a role in limiting genetic diversity.”

Many European Jews did not have surnames until various countries required them, in some cases as late as the early 1800s.

Frohlich will provide up-to-date information on genetic conditions which occur more frequently in Jews of Ashkenazi descent. Each can be devastating to the individuals and their families.

The program will explore the diagnosis, management and treatment of these conditions with a focus on the most common, Gaucher disease. Approximately one in 850 people may have Gaucher, and the carrier rate is approximately 1 in 16. Gaucher disease is two and a half times more common than Tay-Sachs.

A genetics counselor for more than 35 years, Frohlich has advised more than 26,000 couples and authored scientific articles and pamphlets on Ashkenazi genetic conditions.

He holds a BA in Biology (New York University), and a MS in Human Genetics and Genetics Counseling (Rutgers University).

Those who plan to attend the program can submit their surname (original name in Europe or elsewhere) and Frohlich will check its connection to the Founders Effect. Only submit the surname, no personal information. He will use submitted names to illustrate his presentation. Send surnames prior to the meeting.

Fee: JGSGW members, free; others, $5.

For more details, including directions, click here.

Sources for additional genetic information:

Jewish Genetic Disease Consortium: jgdc.org
Gene Tests: genetests.org
National Society of Genetic Counselors: nsgc.org
Gaucher Disease: ngf.org

WDYTYA: Changing the world of genealogy!

Are you – or your genealogy society – ready to ride the wave generated by the US-version of Who Do You Think You Are?

The show – we hope – will create as much buzz for genealogy in the US as it did in the UK.

The British version created – with a captivated audience of millions of viewers – an entire popular genealogy industry.

Tracing the Tribe said, early on, that once the US version hit the airwaves, the same thing would likely happen here. Many of us remember what happened following the airing of the television series “Roots.” WDYTYA may well create the Roots 2 phenomenon.

As genealogists, we (and our societies) need to be ready to ride the wave.

In addition to genealogical societies, historical societies, libraries, archives, our friends and neighbors – if not already “into” family history – will be looking for answers to their questions.

The show – and the other family history shows now being screened – offers the genealogy community an opportunity to grow societies, increase membership, bring in younger audiences (the next “Generation Gen”) as we help educate our communities and the general public on how to find information on their own unique family histories.

Writes Susanne, “this show presents the community with the opportunity to revolutionize, reshape and redefine family history as a whole.”

Here are 10 ways in which genealogy societies can spotlight themselves and their resources, and inform members, friends, families and communities:

— Post flyers, wallpaper, and more. Ancestry.com just launched a Spread the Word webpage with downloadable flyers, computer wallpaper and other ideas for everyone to tell let everyone know about the show.

— Host a Who Do You Think You Are? premiere party. Invite members of your society and local community to watch the show’s premiere together on Friday, March 5 at 8/7c. Thomas MacEntee of GeneaBloggers provides some great tips on hosting a viewing party. View those tips here.

— Hold a society open house or workshop for beginners. Newcomers who catch the bug from the show want to know how to find their own histories.

— Invite local media to your society’s premiere party, open house, or workshop. Local papers usually print news of community events.

— Send an email to your society members. Spread the Word has a simple pass-along email with a video that includes the trailer and Lisa Kudrow speaking about what prompted her to produce the series.

— Encourage society members to invite their friends. Who better to promote your event, the TV show, and your society than your society members – already passionate about family history -with networks of friends and family?

— Prepare getting started materials for beginners. Print a one-page “Getting Started in Family History” guide that beginners can pick up at your event. Post the same information on your society’s website, blog or Facebook page. See below for beginners’ tips.

— Share the Who Do You Think You Are? trailer. Post a link to one of the Who Do You Think You Are? trailers on your society’s Facebook page, Twitter account, website or blog.

— We all know the benefits of society membership. We just need to explain them to others!Programs, workshops, and community events – with enthusiastic audiences – will help understand why joining a society is a good thing. Consider membership discounts for those considering joining while the series is airing or for a specific time period following the series.

— Brainstorm more ideas with your society members.

Beginner Tips

Tracing the Tribe remembers what it was like as a complete newbie trying to get a handle on the resources and putting together the pieces of the puzzle. It can be overwhelming when you don’t really know where – or how – to begin. We can make it easier for newcomers with some “getting started” tips.

Start with what you know

The best place to start your family history journey is with information you already have. Create an online family tree (Tracing the Tribe recommends MyHeritage.com for many reasons, including privacy and safety, advanced features and more) and enter names, places and dates of birth for yourself, parents and grandparents. This is just the beginning – you can fill in the blanks as you go along.

Search historical records

We have so many online resources today, including Ancestry.com, JewishGen, SephardicGen, Footnote, NewspaperArchive, Genealogy Bank and hundreds of other sites. Help members and newcomers find family in historical censuses, military and immigration records, newspaper articles and other sources.

Ask family for more

Family history provides an opportunity for you to really talk to your parents, grandparents, aunts and uncles, cousins. Ask for stories, photos and other information. If you have senior relatives, run – do not walk – to interview them!

Add context to family story

Add and share photos, stories and important documents to your online family tree. Create timelines. Record interviews with relatives by phone, video them if in person, and save them wherever you have placed your family tree online.

Share family history

Share your history and heritage by inviting family members to visit your online family site. Give charts and reports as gifts for lifecycle events (baby, marriage, anniversary, etc.). You could also create a family history book, calendar, poster or other items.

Tracing the Tribe’s personal tip

FamilyTreeDNA.com for genetic genealogy. Submitting samples of Y-DNA and mtDNA to the largest database in the industry means more opportunities for you and others to find matches.

There is a reason that nine out of 10 Jewish genealogists utilize FamilyTreeDNA.com. Within that largest sample database is also the largest Jewish database, essential for genealogists researching their Ashkenazi and Sephardic ancestors.

The more samples in the database, the more opportunities to find matches and family separated by history and geography. The company’s just-announced Family Finder will provide even more possibilities.

Until time machines become common household appliances, genetic genealogy is the best thing we have that to answer some questions about our ancestors.