Purple Canaries

Joyce Gould with Jill Gould

Home Genetic Tests May be Riddled with Errors… UPDATE…REQUEST UNDERLYING DATA FOR ALL DNA TEST RESULTS!!!!

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 whether snps/rs are pathogenic or not is to download 23andme’ raw data to a third party DNA sequencing program (I used Livewello; there are others) and select the illness template you are interested in. I selected the Porphyria Panel. That generated a full Porphyria Panel (Jill’s was eleven pages with more than 100 SNPs/rsID numbers for ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS) based on the 23andme raw data. This will provide you with SNPs per gene indicator (i.e. HMBS for AIP) and rsID identifiers. Using the rsID numbers, access ClinVar (https://www.ncbi.nlm.nih.gov/clinvar) and enter the rs#. ClinVar will generate a full report about that particular rs# that even novices can understand. Perhaps the most important category sought is Clinical Significance. Jill’s ClinVar Clinical Significance results ranged from Benign (the most); Likely Benign; Conflicting interpretations of pathogenicity and Pathogenic. Very interesting to say the least.

I was informed by a high ranking, “in the know” genetic scientist/data analyst that not all genetic labs (even the most “reputable” among them, in fact all APF-connected labs) comply with contributing data to ClinVar’s international database. This of course leaves holes in what has become an important though dynamic diagnostic tool with is patently unfair and, in my opinion, completely irresponsible.

Also, since this post was originally made, the issue of patients specifically requesting ALL underlying (aka supporting) documentation (including rs#s) for every DNA test results s/he may have submitted to has come to the forefront. This is important to do no matter how long ago the test was done. One should not feel squeamish about requesting the data. It is yours, and according to HIPPA law, you are entitled to it–within 30 days of request as a matter of fact. Parents can request their minor children’s data. Upon receipt, ClinVar results are there for the taking–at no charge. Simply follow the directions above and you will be able to verify that the provider’s test results match. If they don’t…request a full explanation, in writing.

Remember the entire medical industry is in “hurry-up, I needed it yesterday” mode. Competition among genetic labs

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.


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