April 30, 2014 Leave a comment
Up until November of 2013 the controversial 23andM.com website offered people the opportunity to get genomic insights to their past and their possible future – at least their future vulnerabilities. After 2 years of back and forth communication wherein it seems 23andMe was trying (unsuccessfully) to convince the FDA that people had the right to genomic information the FDA issued a cease and desist order and now 23andMe states this on their homepage: “23andMe provides ancestry-related genetic reports and uninterpreted raw genetic data. We no longer offer our health-related genetic reports.”
The price of the testing dropped dramatically and is now only $99 for a salivary genomic test. The problem is that unless you actually care what percentage of your ancestral DNA comes from what continent or how much residual Neanderthal your parents contributed to you, the raw data is merely a huge outpouring of A,T,C G data (nucleic acid pairs) which even a competent geneticist would find daunting without the aid of serious computer databases. But therein lies its wonder – we do have access to amazing databases which offer us glimpses into the rapidly expanding arena of medical genomics and personalized health care.
Enter in a support industry growing up around 23andMe like livewello, which offers an app for downloading all those ATCG codes and converting them to more easily understood labels, like MTHFR – a gene with common single nucleotide substitutions which may result in dramatic reductions in its enzyme’s ability to methylate folate (a completely treatable genetic risk factor for heart disease, certain cancers and autism).
The livewello gene app for 23andMe only costs $15 and equally they do not provide you with any specific health recommendations or interpretations. But they do add a filter which makes it easier to identify the genes on the OMIM website. OMIM is part of the the US National Library of Medicine and it is an invaluable tool.
However, there is a catch. 23andMe and livewello (or any of the other gene apps) only identify SNPs and do not adequately look at copy variances and deletions. Still there is useful information, which in knowledgeable hands can give helpful information.
In the near future, (like after Autism One and IMFAR) I will write up an interpretation guide for the primary genes I find helpful and with that I hope to further all of our understanding of the emerging field of personal genomics. Remember – knowledge is power – what you do with that power can change your life in important ways through the use of informed choices.