Humans are an incredibly curious species; particularly when we try to understand who we are, where we come from, and why we experience life in so many different ways. Why is our hair brown, or our eyes green instead of blue, and why are we so short, or tall? Well, we have known for a long time that the answers are in our inherited genes; that is, the building blocks of life are based on heredity. We are the product of the parents who formed this new life. The individual aspects of our body are called traits. Some traits are dominant and some are recessive. So, my father may have been bald at 30, I might have long hair at 50, and my son could be bald at 20. It is mostly how the genes are assembled coupled with the environment. We are all aware that cancer can be an inherited risk if both parents have experienced the disease. But, it is not a certainty. We have explored the relationship between gene makeup from the first gene map of the fruit fly in the 1920’s to the completion of the Human Genome Project in 2003. So, with a complete map of an individual’s DNA sequence, we can have the potential risk of experiencing some genetic disorder. And, that is the subject of this post; can we reliably assess risk based on simple testing?
I have been watching the home testing kits sold online from lead testing to blood and drug analysis for quite some time and they all raise questions about the validity of the testing protocols. But, in October of this year I began to see TV commercials for 23andme, a simple genetic test for genes. I underlined simple because complete DNA sequencing still has a cost of $5,000. And this home test is $99! So, I looked into the claims further and discovered that 23andme has been around since 2007 and was founded by Ann Wojcicki, wife of Google partner, Sergey Brin. And then, in November, the Food and Drug Administration, (FDA) issued a cease and desist order to the company. The order is based on the fact that 23andme has failed to provide data as to the veracity of its claims despite repeated requests to do so. As of today, the site is still up and running so it is not clear what will happen next.
My own sense of the testing service is that the information provided from spitting into a tube and sending it back for “sequencing” lacks any real quality control and standards of testing. The size of the data pool is unknown, and the results are not published for peer review. And although their hearts may be in the right place, my fear is that the information garnered from the test may be used for medical diagnosis which is an extreme risk. There are too many variables and information is extrapolated from an unknown published source. The trend? More companies will enter the marketplace and believers in technology will trust that the information is valid. This is truly the feared slippery slope. I would encourage readers to do some serious research before shelling out money for an untested product. There is an actual use review on Forbes here.
I have been watching the home testing kits sold online from lead testing to blood and drug analysis for quite some time and they all raise questions about the validity of the testing protocols. But, in October of this year I began to see TV commercials for 23andme, a simple genetic test for genes. I underlined simple because complete DNA sequencing still has a cost of $5,000. And this home test is $99! So, I looked into the claims further and discovered that 23andme has been around since 2007 and was founded by Ann Wojcicki, wife of Google partner, Sergey Brin. And then, in November, the Food and Drug Administration, (FDA) issued a cease and desist order to the company. The order is based on the fact that 23andme has failed to provide data as to the veracity of its claims despite repeated requests to do so. As of today, the site is still up and running so it is not clear what will happen next.
My own sense of the testing service is that the information provided from spitting into a tube and sending it back for “sequencing” lacks any real quality control and standards of testing. The size of the data pool is unknown, and the results are not published for peer review. And although their hearts may be in the right place, my fear is that the information garnered from the test may be used for medical diagnosis which is an extreme risk. There are too many variables and information is extrapolated from an unknown published source. The trend? More companies will enter the marketplace and believers in technology will trust that the information is valid. This is truly the feared slippery slope. I would encourage readers to do some serious research before shelling out money for an untested product. There is an actual use review on Forbes here.
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