Tuesday, May 22, 2012


Last year, I had my DNA tested by 23andMe.  This company, found at  www.23andme.com, provides genome testing to reveal inherited traits, genealogy, and congenital disease risks.  I signed up for a test kit online (currently priced at $299), and received my test kit a few days later.  There is no blood test involved, I simply spit into a glass tube and returned my sample in the postage paid box.  A few weeks later, I received my results.

Traits: From the saliva sample, the company reported that I likely had blue/green eyes (true), reddish hair (true), type O- blood (true), little curl in my hair (true).  It also reported that I was not likely lactose intolerant, did not flush when drinking alcohol, and was unlikely to taste bitter flavors such as asparagus-- again all true.  It also revealed traits I was unaware of, such as the genes for fast twitch muscles (found in elite athletes and track stars).  Pretty fascinating to discover that all this could be revealed from a saliva sample!

Congenital disease risk:  I tested negative as a carrier of cystic fibrosis, breast cancer (BRCA1 and BRCA2), Gaucher's Disease, Tay-Sachs Syndrome, and Sickle-Cell Anemia.  In fact, I am not a carrier for any genetic disease.  There are other diseases that have strong genetic components but need environmental triggers.  Of these diseases, I have a stronger risk of developing gallstones, type-1 diabetes, atrial fibrillation, celiac disease, and stomach cancer.  This is no way means that I will develop any of these diseases!  Again, this is based on my genes, lifestyle choices can impact the occurrence of these diseases. I would recommend DNA testing for anyone solely on the basis for discovering your disease risks, particularly to find out if you may be a carrier for a congenital disease.  Knowledge is power.  This knowledge will allow you to make informed decisions about your health and lifestyle. I will continue to exercise and maintain a healthy weight.
Many of you know that my son, Adam, has type-1 diabetes.  Based on my DNA results, he may have inherited a predisposition for this disease from me.  No one knows how genetics and environment impact the development of type-1 diabetes, that is, if you have to inherit something from both of your parents, etc.  No one gene or combination of genes has been identified as the "marker" for diabetes. Basically, studies have indicated that persons with genetic combination most similar to mine may have a higher predisposition to the disease. Hopefully, genetic research will unlock the mystery of how diabetes is inherited, which will surely lead to a cure for the disease in Adam's lifetime.  Again, information is power if you choose to act on it wisely.

GenealogyI have read that 23andme got into the DNA business with the goal of researching health and disease, and had initially provided genealogical information as a value-added feature.  I think that was kind of short-sided on their part, as I believe that most people that have been tested are interested in their genealogy and have viewed the health information as the value-addded feature!  Basically there are three genealogical features that genome testing on 23andme can reveal about your DNA: haplogroups, ancestry painting, and a "relative finder"  I will discuss these features in future blogs!

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