Promethease

@DemiLeighFr snpedia.com/index.php/SNPs…

@cheryintoronto @cherylintoronto Please email info@promethease (if you haven't already) so we can follow up as necessary ..

@GenCounsNews @KATCGC @23andMe We also offer 1 on 1 (free) training for genetic counselors who want to learn more about how best to use Promethease.

@Talya_Canada_GC @KATCGC @23andMe ".... sent a wrong report .." - does that mean 23andMe sent someone else's raw data file to you? That would be very very unusual; it's way more common for users to mix up who's file is who's when they've submitted samples for multiple people.

@MyGeneCounsel @mjfender @colleencaleshu @KATCGC @GenCounsNews @laurahercher @GeneticCouns @FdA We'd be happy to be involved in helping this become a reality! Even if there are many DTC genotyping companies these days, and they also change their DNA chips and bfx pipelines from time to time, it would be a great complement to our own miscall warnings in @Promethease reports.

@mjfender @colleencaleshu @KATCGC @GenCounsNews @laurahercher @GeneticCouns This is precisely why we need the @FDA to require DTC companies to publish their data - even on their own websites - so that we can compare their call rates with expected rates in the general population.

So, how do we throw down a line to consumers stuck in the DTC testing abyss? forbes.com/sites/ellenmat…

@mem_somerville snpedia.com/index.php/SNPs…

@kylewalterdavis @GCBrianne Depends on what "variant analysis" means, but we (Promethease) routinely process exomes for consumers and we work with plenty of GCs on the tough questions that are bound to come up.

This happened sooner than I thought: Got a call from a parent trying to do their own exome analysis from raw data (using an Excel spreadsheet!). She wanted to know if I or any service was out there to do variant analysis. Anyone know of one?? I don't. @GCBrianne #GCChat

@DrKhouryCDC #What_are_some_good_sources_for_learning_the_basics_about_DNA_and_genetics.3F" target="_blank" rel="nofollow noopener">snpedia.com/index.php/SNPe… Anyone have additional suggestions to add? #GenCSM

@chicagogenetics @MyGeneCounsel We are working towards helping consumers know which SNPs are prone to being false positives, and welcome input from GCs and others any time. #GenCSM

@DrKhouryCDC Yes, consumer understanding of any new technology can and should be improved, and we're certainly working to help people with #DTC results understand them and connect when appropriate with GCs and their healthcare providers. #GenCSM

@TurnaRay SNPedia and Promethease were both launched in 2006, and every year there have been more people coming to both. #GenCSM

@GenC_SM No, for several reasons. Most #DTC companies test less than half of all the known mutation locations. Also, only a fraction of #breastcancer patients has a #BRCA mutation. #GenCSM

@BraveBosom Agreed! @SNPedia is thankful for the ClinVar expert panels, like the BRCA1/2 panes. #westandontheshouldersofgiants #GenCSM

@GenC_SM And it’s better to take a medical grade test with a doctor or genetic counselor for accurate results that the provider can put in medical context. #data #rawdata #BRCA #genetics #GenCSM

@GenC_SM No, because most #DTC tests use the same basic technology, so right or wrong, findings are likely to be about the same between companies. #data #rawdata #BRCA #genetics #GenCSM

@GenC_SM The first step would be to discuss the finding with a #geneticcounselor or a doctor familiar with #genetictesting. Medical grade testing under the guidance of a healthcare provider may then be a recommendation. #health #data #rawdata #genetics #GenCSM

@TurnaRay @MyGeneCounsel And when customers contact us directly, we also help them find a GC. #GenCSM

@TurnaRay @MyGeneCounsel Yes, most important mutations include links to our "Find A Genetic Counselor" forms. #GenCSM

@chicagogenetics We set an internal reference in SNPedia, and then correlate the incoming reference to that. Feel free to contact us offline for more details. #GenCSM