On 4/3/2018 Huffpost published an article about home genetic tests titled “Home Genetic Tests May be Riddled with Errors, and Companies Aren’t Keeping Track” written by Anna Almendrala. It’s a great title; really draws attention. But it doesn’t tell the full story of how to find out if a snp is active or not. I emailed Anna and shared this information, thinking she might tell the couple profiled in the article about it. Thanks to my beautiful friend, Ellen Asher’ guidance, I learned the key to finding out if snps are active or not is to download 23andme’ health reports to a third party DNA analysis program (I used Livewello; there are others) and click on the porphyria panel (if, of course you’re interested in finding out about what porph snps you have). That will generate a full Porphyria Panel (Jill’s was eleven pages) based on the 23andme health reports. THEN, access GWAS Central [https://www.gwascentral.org], “an extensive, centralized compilation of summary level findings from human genetic association studies, both large and small” (free). Enter the genomic location (or gene symbol, e.g. HMBS) and it will produce a report of ACTIVE snps. You can then compare the snps revealed by the 3rd party DNA analysis program to the GWAS Central print out—and voila! You’ll now know which of your snps are active.
Remember the entire genetic industry is in “hurry-up, I needed it yesterday” mode. Competition is fierce—and getting even more so. Sniping at competitor’s data is going to continue. Try to find a non-biased geneticist to review the information with you. Somebody recently posted a wonderful phrase on a FB forum: “DNA is a destiny, not a destination.” Love it! Genes set the mood, but gene expression results from a host of endogenous and exogenous factors. When it comes to your body, experience trumps experiments. Do what’s best for YOU.