Finding out who you really are: DNA testing 
Facilitated by Walter Sorochan

Posted December 01, 2013   Disclaimer

This article is about using individual genetic make-up to find out one's health risks and prevent them. But big leaps in technology are also making it easier for people to look at their DNA for other clues to help them make other life decisions.

Genetic research and especially deciphering the human gene code, got its impetus from "The International Human Genome Project."  Although this project opened the door to our better understanding of heredity, health and disease, most medical doctors in United States feel inadequate in advising their patients about genetics and disease. Rubin: MDs behind in DNA testing 2010   Mass media in United States would have you believe that USA is the leader in genetic research, but this is not necessarily true.  Many countries are competitively doing high level genetic research.  Genetic research worldwide 2010

BGI-genomics-map
A map of the populations of major genome sequencing platforms around the world. Not yet updated for the end of 2010. Saenz: China DNA research 2011

For example, The Beijing Genomics Institute [BGI], now located in Shenzhen, China, is a leading diverse genomics facility in China and the world.  They are doing  sequencing on viruses, bacteria, fungi, plants and animals as well as humans.  Saenz: China DNA research 2011

Genetic testing in the United States to evaluate your DNA and calculate your propensity for diseases is controversial.  Pollack: FDA DNA controversy 2010  Miller: DNA testing doesn't work 2009  Numerous companies are competing for FDA approval and many are being warned to stop selling their testing kits to the public.  Genetic testing research is spearheaded by three DNA testing companies: 23andMe, Navigenics and Nanobiosym. Such research testing is facilitated by two San Diego area companies, Illumina and Life technologies, that develop fast and inexpensive gene-sequencing machines.

 23andme, founded by Anne Wojcicki, was the earliest to evolve a simple saliva testing kit.  A recent competitor, Nanobiosym, has developed a portable rapid diagnostics device that will allow users to accurately test for many diseases in under an hour. All that’s required is a drop of blood, saliva, or another bodily fluid, depending on the test being done. Called Gene-Radar, the iPad-sized device is still being perfected and awaits regulatory approval. Gene-Radar uses nano-machines to detect specific DNA and RNA bio-markers in real time. Nanobiosym researchers say the device can be customized to diagnose numerous maladies that have known genetic footprints, including tuberculosis, malaria, and some types of cancer. “We’ve even developed an application for looking at wellness by monitoring inflammation,” says Goel.   Winter: New DNA test 2013

Navigenics and 23andMe do not provide as complete DNA analyses as Nanobiosym Miller: DNA testing doesn't work 2009  Navigenics’ $1,000 service, aimed at doctors, offers only health-related information, while 23andMe’s $100 service provides genealogical data for about 250 health conditions and traits aimed at the general public. The personal genetic variations they uncover, while using the most advanced technology and knowledge available, isn’t sufficient to fully explain all disease risks in detail. Then there are other limitations, like privacy  Downey: Privacy & 23andMe 2013   and patenting issues. Farr: Gene patenting 2013In spite of these limitations, DNA testing services are the future of medicine. We may have to wait a little while longer for FDA approved and inexpensive DNA tests for the public.

The video information below is an attempt to help you become better informed.  This researcher selected 23andMe as an example of information about genetic testing. 

"23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California, that provides rapid inexpensive and genetic testing. The company is named for the 23 pairs of chromosomes in a normal human cell. Their personal genome test kit was named Invention of the Year by Time magazine in 2008."  Wiki: 23 & Me

"23andMe began offering DNA testing services in November, 2007, the results of which are posted online and allow an assessment of inherited traits, genealogy, and possible congenital risk factors.  Customers provide a 2.5 ml saliva sample that is analyzed on a DNA microarray machine [ manufactured by lllumina ].

There are about ten million places in your genome [ genome is the entire organism's hereditary information that includes DNA and RNA. ] that make you who you are. There are about a million places in the DNA/RNA called single single-nucleotide polymorphisms [SNPs] ["snips"].  Some persons will have a specific SNP while others may have a related different one.  Such SNP differences provide biological variation between people. Those differences can in turn influence a variety of traits such as appearance, abilities, disease susceptibility or response to drugs.  Here is an example of a SNP that may occur in a population:

SNP cancer13
Source Slide 21: National Cancer Institute

In the above DNA sequence  T   A   G   C , a SNP occurs when the G base changes to a C, and the sequence becomes TACC. When SNPs occur within a gene, the protein that results usually remains somewhat functional. 

Of those ten million SNPs in the human genome, 23andMe sequences approximately 960,000. And while that might seem like a small number, 23andMe only uses a tiny subset [ about 250 ] of these in generating your personal report. 

An eventual goal is to provide whole genome sequencing.  23andMe also provides testing for certain research initiatives,  providing confidential customer datasets to and partnering with research foundations with a goal of establishing genetic associations with specific illnesses and disorders."  Wiki: 23 & Mefont 

23andMe-DNA-Test-Process1
Socrates: IS DNA test for you

Cost:  $99 + (12months X $9 each) + roughly $30 for shipping = $237 [ total cost for the year ].  Socrates: IS DNA test for you

On November 22, 2013, theFood and Drug Administration ordered 23andMe to stop selling its genome test kit, stating that the company had not demonstrated that the tests were scientifically valid.  Bailey: FDA closes DNA testing 2013   Wiki: 23 & Me  Prior to 2013, the FDA had ordered other genetic testing companies to also stop selling their genetic testing kits. Pollack: FDA DNA controversy 2010 This is not the end of the battle between 23and Me and other companies marketing genetic testing kits and the FDA! 

What does the DNA test do?

Is the DNA test for you?  Why do you want a DNA test? To make an informed decision, you need to find out what the test does and does not do. For starters, make sure you are clear that this is not a complete mapping of your personal genome. What 23andMe offers is a SNP DNA test. This means is that it does not map and examine all your 3 billion genome base pairs but tests only what are arguably the most important 1 million snips of your DNA. While this may be a small part of your total genome ... it is supposed to be a rather revealing one. Socrates: IS DNA test for you   In fact, it is for this reason that the test is so affordable. Otherwise, you would be looking to pay upwards of many thousands of dollars rather than the mere couple of hundred you would be paying with 23andMe. In addition to cost, another advantage of the SNP test is that it is much faster while the main disadvantage is that it is less accurate. So, make sure you understand the differences and recognize the pro’s and con’s of each DNA test.

In terms of general accuracy, having a specific gene does not necessarily guarantee a specific or certain type of health outcome. "Though the exact importance of your genes is still very much a matter of scientific debate, currently the predominant opinion claims that genes determine only about 20-30% of the outcome. The other 70-80% are a result of your environment and life choices such as nutrition, sleep and stress patterns, physical activity etc.. Thus no DNA test can or will ever predict your future. At best, what it can do is provide you with a good idea of your odds for health or disease."  Socrates: IS DNA test for you

Test Results: You get two broad categories of results: health and ancestry. Health results include health risks, drug responses, traits, and inherited conditions. For example, you could find out that you carry the BMCA mutation that causes significantly higher rates of breast cancer [ when Angelina Jolie found out, she opted for a double mastectomy ], that you’re likelier than most to have Bipolar Disorder, or that you’re a carrier for Cystic Fibrosis. 23andMe’s “traits” section is less serious than health conditions but still interesting. For example: a trait for sports ability, such as sprinting, and a “tendency to overeat.  Then there is ancestry information as to where your ancestors may be from. 

Below are videos that provide more information about testing your body for diseases and health:

23andMe Genetic test cost approx $100: 4:21 mns.

More information can be found at 23andMe

Palomar Pomerado Health [PPH] in San Diego and 23andMe match up to test user's genomes. Medical Director Jerry Kolins at PPH and 23andMe cofounders Anne Wojcicki and Linda Avey discuss the service.

What you can find out ... Interpreting results 11 mns:

Real health benefits of 23andMe: 1:38 mns.

Why DNA testing? 1.04 mns.

What are Genes? 4.25 mns.

Interconnectedness 1 mn.

 

References:

23andMe, company information:  23andMe info  23andMe: Privacy details

"The company has received Series A, B, C and D funding from several prominent technology and health science companies, strategic angel investors and venture capital firms, including Yuri Milner, Johnson & Johnson Development Corporation (NYSE: JNJ), MPM Capital, The Roche Venture Fund (Swiss: RO.SW ), Google Ventures (NASDAQ: GOOG), and New Enterprise Associates, among others. "

Bailey Ronald, "FDA Shuts Down 23andMe: Outrageously Banning Consumer Access to Personal Genome Information," November 25, 2013.   Bailey: FDA closes DNA testing 2013

Downey Sarah A., "How to use 23andMe without giving up your genetic privacy," VentureBeat, September 20, 2013.   Downey: Privacy & 23andMe 2013

Editorial, "Putting DNA to the test," Nature October 8, 2009, 461, 697-698.   Editorial: genetic testing 2009

Farr Christina, "Should human genes be patented? Navigenics founder says ‘absolutely not’" VentureBeatHealth, April 15, 2013.   Farr: Gene patenting 2013

Genetic research world wide: Genetic research worldwide 2010  

Miller Bradley, "Personal Genomics – Why 23&Me Doesn’t Work," Medicine Think, November 5, 2009.   Miller: DNA testing doesn't work 2009 

Pollack Andrew, "F.D.A. Faults Companies on Unapproved Genetic Tests," New York Times, June 11, 2010.   Pollack: FDA DNA controversy 2010

Rubin Rita, "Most doctors are behind the learning curve on genetic tests," USA TODAY, October 24, 2010.   Rubin: MDs behind in DNA testing 2010

Saenz Aaron, "BGI – China’s Genomics Center Has A Hand in Everything," SingularityHub, November 11, 2011.   Saenz: China DNA research 2011

SNPs can generate biological variation between people by causing differences in the recipes for proteins that are written in genes. Those differences can in turn influence a variety of traits such as appearance, disease susceptibility or response to drugs. While some SNPs lead to differences in health or physical appearance, most SNPs seem to lead to no observable differences between people at all.  

Socrates, "23andMe DNA Test Review: It’s Right For Me But Is It Right for You?" Singularity,   Socrates: IS DNA test for you

Wikipedia, "23 & Me" Wiki: 23 & Me 

Winter Caroline, "A Portable HIV Test That Provides Results In Minutes," BloombergBusinessWeek, November 25, 2013.  Winter: New DNA test 2013