What does mega-search engine Google and mega-genome services company 23andMe have in common?

Two actually, and maybe more…

First – investments and second, spouses.

This week, Google invested $2.6 million in 23andMe on top of the $7 million invested so far. No surprise there, since Google’s co-founder Sergey Bring is the spouse of 23andMe’s co-founder Anne Wojcicki. But as CNN remarked, it’s one the perks of marrying Google.

In another news, biotech giant Illumina has launched a personal genome sequencing service. That is, you can have your entire genome sequenced – all 3 billion DNA - for a hefty price of $48,000. Unlike 23andMe and other genome-testing services where only genotypes are provided, Illumina will provide your entire DNA sequence.

But you need a prescription and a physician’s OK to get the ball rolling. AND, you still need one of the other personal genomics companies such as 23andMe to interpret the sequence and tell you your risks.

image: Newscom

I hear so much about genetic testing these days that I’ve always wanted to find out what that experience is like for people who had the test done. Sure, it’s painless (just a saliva or cheek scrape will do). But more than the test itself, I want to know what your life is like these days.

What was it like to know you are at risk for this X disease? What did you do with your results? Are you now eating, living better? Do you feel trapped, empowered, confused?

I do want to know. Maybe I’m the coward who can’t face the mortality of my future. I don’t know that if I knew, I would do something about it, or I would be scared stiff to change. (What’s the point, right?) So hearing from other people who are more adventurous than me would probably help.

It turns out, I’m not the only one who wants to know. People I talk to have the same questions about those who’ve had the test. And now, so does the big wig Case Western Reserve University.

If you’ve ever had one of the tests done with 23andMe, deCODEme,  Navigenics, or Knome, the university wants to interview you.

Read more about it at - Saliva divination: was it good for you?

To learn more about participating in this study, contact Marcie Lambrix via at 216-368-8753 or via email at mal31@case.edu

Image: Newscom

Just two years since conception and personal genome services company 23andMe’s Personal Genome Service™ has earned TIME Magazine’s Best Invention of the Year for "its exceptional work in making personal genomics accessible and affordable".

Dubbed the Pioneer in retail genomics, 23andMe is able to provide genetic risk and predisposition for more than 90 traits and conditions to clients for only $399.00 and a saliva kit. Clients don’t even have to leave home to do it, and they can access it all in their personal website/database. If they so wish, clients can even compare their genomes with other family members who are also 23andMe participants.

This award makes the point that genomics revolution is here faster than we thought possible when the human genome first got sequenced. As more people get hold of their genetic information, it is all the more important for a thoughtful regulation be put in place, and a more effective education of genomic revolution be made available.

With genetic testing companies sprouting everywhere, people now have the resource to know their risks for certain types of disease. Companies like Navigenics, 23andme Inc. and DeCode Genetics all offer genetic tests to their consumers to show whether certain genetic mutations make them more likely to develop diseases such as heart disease, cancer or diabetes.

But is it enough to know? Or will knowing what the inherent risks are motivate a person to make changes to his lifestyle to prevent the disease from developing?

Surprisingly, no research has been performed that answers this question.

"There are a lot of anecdotes about this, and the question is, What is the impact? It’s been dangling for a while and no one has really orchestrated a project like this until now to study it," says Eric J. Topol, director of the Scripps Translational Science Institute.

Topol and his colleagues will conduct a prospective study that will conduct genetic testing on 10,000 Scripps Health hospital chain employees, family members and friends. Health care decisions and lifestyle of the participants will be followed up for the next 20 years, to answer this and other questions relating to genetic testing and health care choices.

In January, The New England Journal of Medicine published an article criticizing the popularization of genetic testing by companies such as 23andme, deCode, Navigenics and Knome who doctors believe are introducing genetic testing prematurely into a commercial setting and confusing public and medics alike.  The authors of this article coined the phrase ‘recreational genomics’ for this type of testing.

While all of these companies claim that their tests should not be used as the basis for medical decisions, some physicians are concerned that customers for these tests will nevertheless begin seeking medical direction based on their results.  Doctors have been unprepared for the genetic advice they need to give their patients. 

The British Medical Journal has also published an equally critical article on the commercialization of genetic testing written by Exeter University Professor of Epidemiology and Public Health, David Melzer, whose own interest lies in research on genetic and conventional risk factors for chronic conditions of ageing.

Among the author’s concerns, is the need for strong regulatory oversight of genetic tests, tests based on empirical evidence, and public and physician education based on sound and transparent information.

“Although major scientific progress has been made, clinical applications are still mostly unclear,” Melzer wrote.

He suggests the key value of genetic markers may be in providing clues about disease mechanisms. On the other hand, he argues that few of the current markers are useful diagnostically, particularly those associated with moderately increased risk and/or with conditions for which no preventative interventions are available.

My personal belief is that introducing innovative genetic testing technology has to start somewhere.  With genetics we will never understand 100% of the complexities and interactions between our DNA and the environment - that is for the ‘divine being’ to know.  These genomic companies have taken a huge financial and clinical risk in bringing these tests to the market.  The tests are in their infancy and each of these companies are transparent in advising their customers of this fact.  That said, massive scientific research continues to take place to build on the knowledge base of these tests, so that they may be refined.  This process will never end.

Most people are fascinated by their own health and mortality.  Millions are spent on a plethora of mainly unproven herbal drugs and vitamins that have the potential to damage an individual. Many more millions are spent on early stage gadget technology.  If an individual wishes to understand more about their genetic risk of developing a disease and testing is available then it is also their right to purchase a test.  Surely commonsense dictates that raising an individual’s awareness of their risk of developing a disease is a good thing, particularly if that individual takes control of their health and well-being by perhaps eating more sensibly and taking more exercise?

In terms of patient education and support, these genomic companies are providing some pretty in-depth advice which customers have access to.  In terms of doctors providing more information and education on genetic testing, the question needs to be asked as to why medical schools are not preparing doctors sufficiently in this area? Genetics and the knowledge of the role it will play in diagnostics has been around for a good 30 years! Genetics and genetic testing should be part of the core medical training syllabus and ongoing professional education. 

… and for that matter it also needs to be taught as part of the school syllabus.  Genetics has come along way since Gregor Mendel’s pea plant experiments in the 1850’s and yet that is still the level of subject knowledge our kids are being taught!

Elaine Warburton  www.geneticsandhealth.com

Family Tree DNA advises it is now offering DNA Traits a personal genomics service that specializes in DNA testing for specific diseases. This company offers individual tests, group tests, and even a membership plan, all for relatively cheap prices compared to the other companies offering genome-wide SNP scans. The difference between them and their competitors, they claim, is that the patient has to meet with a genetic counselor before he or she can directly access resulting data.

Sorry, not a new service - Opaldia has been doing this for a number of years.  Opaldia’s difference is that customers also meet with a Consultant Specialist as well as a Genetic Counselor.  Also, if genetic variations are discovered and a customer’s risk of developing a disease is increased, a customer has the option of accessing diseases health surveillance programs. Opaldia has access to storing DNA for 15 years. Slightly more pricey but worth the peace of mind.

Then, of course, there is DNAdirect, 23andme, Navigenetics, Knome ……

Elaine Warburton  www.geneticsandhealth.com

Biotech start-ups utilizing genetic information are nothing new. Could 23andMe be unique? Yesterday, I received a nice email from their recruiting manager, Oliver Ryan. As luck would have it, I’m vacationing in the San Francisco Bay Area and hope to swing a meeting with some 23andMe folks next week, including Anne Wojcicki and Linda Avey. If there’s anything you’d like to me to ask, email me or leave a comment here.

From the little information that’s available on their website, 23andMe sounds like one-stop shopping for personal genomic information.

23andMe is an early stage startup developing tools and producing content to help people make sense of their genetic information. Our goal is to take advantage of new genotyping technologies and help consumers explore their genetics, informed by cutting edge science.

Your annotated DNA on a USB portable hard drive could happen much sooner than any of us expect. What are your plans for all that genetic information? I might set mine to music.

The Genetic Genealogist has more about 23andMe.

Update: We’ve decided to keep the meeting off the record. I’m so sorry! When they’re ready to blast their publicity horn, though, you can bet I’ll be there to record it.