@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.
@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.
@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
@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
@GenC_SM And itโs 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
@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