![]() The scene, a roundtable of geneticists reviewing a case. Geneticist 1: Well, some one (Non geneticist) astutely ordered genetic testing for condition X before we saw them. When we saw them we ordered aChromosomal Micro Array (CMA)and a karyotype.... Geneticist 2: Well, did you ate least think of condition X? Geneticist 1: Not really, it was pretty atypical for condition X so we thought we might find something with aCMA. Geneticist 3: You'll certainly find things with aCMA. Now what the hell you will do with those rare deletions and duplication is another topic. Geneticist 4 and Training Geneticist 5: "Chuckle, Chuckle" Geneticist 1: Well, while we were waiting for the CMA, we were notified by the patient's family, they have condition X.... Geneticist 2: Wow, I would have thought it was Condition Y based on your presentation which would have been picked up on CMA..... Geneticist 1: Well, we did pick up something on CMA... Geneticist 5: Let me guess, a rare unknown duplication Geneticist 1: Correct, how did you know??? Training Geneticist 5: 50-50 shot. Geneticist 2: So now what will you do. Geneticist 1: Same thing we always do. Test mother and father, if they're "normal" we will say it is a benign event...... Training Geneticist: Too bad we can't say "We have no clue what it really means....Merry Christmas" Close scene.... Today this is happening at an alarming rate in clinical genetics services in academic centers everywhere..... Here's the catch.....It will only get worse before it gets better, and it will take a very long time or 10 million people to make it better. We really have no idea what is in store when we start looking at all these genomes....My guess is that even the smartest geneticist will be rendered a bumbling idiot at least 10 times in the next decade..... The Sherpa Says: A smart entrepreneur finds solutions to this and many other problems that wil stem from this crazy genomic data......and when Francis becomes NIH director, the US will turn into DeCode/Iceland, it is the only way to figure this stuff out.....too bad the public isn't ready for it.....Franics is no Kari and the US is no Iceland....Merry Christmas!
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