Chung: Disease w/prevalence of 1%; PPV is 9%, sens 99%, spec 90%. Now w/ 0.1% prev; PPV 0.9% A 1% chance of disease #NGDx16
9:44am August 26th 2016 via Hootsuite
Chung: Unk. where we are on the Gartner chart. Quotes 1968 ref https://t.co/q2vLuqSmOt Idea is what does it cost, #NGDx16
9:43am August 26th 2016 via Hootsuite
Wendy Chung (Columbia): Genomic health screening: the hype, hope, and reality #NGDx16
9:40am August 26th 2016 via Hootsuite
RT @h2so4hurts: AB: Single cell advantages: 100% fetal fraction, detect mosaics, potential for very high accuracy #NGDx16
9:38am August 26th 2016 via Hootsuite
RT @h2so4hurts: AB: Can detect placental mosaics using single cells - Can be more confident in the calls #NGDx16
Q: What do you want us to all do? (Bick) Platt: Promote wellness genomics in a safe, resp. way. 'The genome is not dangerous' #NGDx16
Platt: Some inflation in expectations (back to Gartner fig.) Geoffrey Moore's TALC model, crossing the chasm for elective genome #NGDx16
9:36am August 26th 2016 via Hootsuite
Platt:' Promising future with AI and value to transform healthcare. "We had to build the cars before we built the roads" #NGDx16
9:34am August 26th 2016 via Hootsuite
Platt: There is big data, but not a lot of information - among the noise is some signal, and in the signal some insight. #NGDx16
9:32am August 26th 2016 via Hootsuite
Platt: Reviews consent and DTC, and how there is data but not a lot of science. Online dating ref https://t.co/NIrS8O9xCA #NGDx16
9:30am August 26th 2016 via Hootsuite
(Okay, I had to look up the section on Child Talent DTC testing. You are welcome.) #NGDx16 https://t.co/WUa3kfStFT
9:29am August 26th 2016 via Hootsuite
Platt: 246 companies doing DTC; 27 carrier, 74 ancestry, 4 for child talent (! - I should look into that one...) #NGDx16
9:26am August 26th 2016 via Hootsuite
Platt: Plots WGS to growth in GenBank; Points to this review on DTC, and the landscape of companies https://t.co/jD91wtYhDr #NGDx16
9:25am August 26th 2016 via Hootsuite
Platt: Data growth surpassing Moore's law in '16. Slide 4 from here https://t.co/Zsvhk3UHNz #NGDx16
9:24am August 26th 2016 via Hootsuite
Platt: Some may be doing qPCR, others WES. Hype-cycle from 2014 Gartner https://t.co/O85Gg5akHh #NGDx16
9:22am August 26th 2016 via Hootsuite
Platt: Landscape of wellness genomics- 23andMe, Ancestry, Pathway, Helix, DNAfit, and exapnds very large (Fitness Genes?) #NGDx16
9:19am August 26th 2016 via Hootsuite
Jamie Platt (BRIDGenomics LLC) Personalized genomics: beyond precision medicine #NGDx16
9:18am August 26th 2016 via Hootsuite
MT @h2so4hurts: BCM: Capture minimum 5 cells, individual cell WGA, NGS to call microdeletions in the 1-2MB size range #NGDx16
9:17am August 26th 2016 via Hootsuite
RT @h2so4hurts: BCM: Fetal trophoblasts routinely captured >3 cells in >95% of cases - WGA aCGH now moved to 5M reads on NGS #
9:16am August 26th 2016 via Hootsuite
Q: Counseling? Bick: They have their own counselors; infrastructure exists with the Drs. in disease testing context. #NGDx16
Bick: 'No different than a whole-body MRI', or an elective cholesterol test. WGS - is new. #NGDx16
9:15am August 26th 2016 via Hootsuite
Q: Regulatory stance on elective genome? Bick: Any physician can order test; and has to have a Dr-Pt relationship. #NGDx16
9:13am August 26th 2016 via Hootsuite
Bick: WGS data doesn't change over time, the knowledge of var's increases. Pts and physicians need to be in-charge of reanalysis #NGDx16
9:08am August 26th 2016 via Hootsuite
RT @h2so4hurts: RW: Until maternal age of 40, microdeletions are the most common chromosomal anomaly in fetuses #NGDx16
9:07am August 26th 2016 via Hootsuite
The truth comes out, sometimes delayed though... #NGDx16 https://t.co/dOqcQs9wxK
Bick: What can be put into an elective genome next? ApoE variants and heart disease risk. Biotinidase deficiency - autosom recess #NGDx16
9:04am August 26th 2016 via Hootsuite
Bick: Genealogy (23andMe not mentioned by name), 700K SNPs and alerts when a 4th cousin pops up. Traits dep on genotype #NGDx16
9:02am August 26th 2016 via Hootsuite
Bick: Shows chart of HLA-B subtypes that causes adverse events. Chart from '11 NEJM https://t.co/kCEKlq5y6S #NGDx16
9:01am August 26th 2016 via Hootsuite
Bick: Use for HLA: but certain types put at high relative risk (ankylosing spondyloarthritis, B27 at 87% inc risk) #NGDx16
8:59am August 26th 2016 via Hootsuite
Bick: Conditions like LongQT syndrome detection, blood groups w/alloimmune disease, Kel, RhE rare antigens for add'l monitoring #NGDx16
8:58am August 26th 2016 via Hootsuite
RT @h2so4hurts: Me: PPV of microdeletion NIPT is horrendously bad the way it is currently done. It's a screening test not a diagnostic one…
8:56am August 26th 2016 via Twitter Web Client
Bick: Online can have warfarin starting points given CYP2C9 status; education for the physician. "Placed in the pt's file folder" #NGDx16
8:54am August 26th 2016 via Hootsuite
Bick: Also PGx (pharmacogenetic) var's, for warfarin dosing (CYP2C9*2), VKORC1*2; included PharmGKB link in report #NGDx16
8:52am August 26th 2016 via Hootsuite
Bick: Found he was carrier for ocular albinism, Aicardi-Goutieres, metabolism disorder. Ordinary carrier panel wouldn't find them #NGDx16
8:51am August 26th 2016 via Hootsuite
Bick: The medical record impt; indiv had elevated cholesterol, triglycerides; gout. WGS had VUS in STAP1, assoc'd w/hi cholesterol #NGDx16
8:50am August 26th 2016 via Hootsuite
Bick: Elective: b/c individuals initiate it. 52yo cauc male asks for WGS. For payers, for the healthcare system, 'elective' term #NGDx16
8:48am August 26th 2016 via Hootsuite
Bick: Onto cancer, uses case of 39yo female where AML or APL. Determined via WGS it was APL, and ATRA treatment prescribed #NGDx16
8:47am August 26th 2016 via Hootsuite
Bick: Bone marrow xplant saves boys life. An example of WES with actionable Rx; there were dozens of possible Dx #NGDx16
8:45am August 26th 2016 via Hootsuite
Bick: After 6 mos of diff Rx, condition worsens. After WES, found PRF1 gene in trans; found Dx hemophagocytic lymphohistiocytosis #NGDx16
8:43am August 26th 2016 via Hootsuite
Bick: Shows Moore's law NGS slide https://t.co/PGdK6kC76o Cost a driver. 13mth old w/cerebellitis, long list of etiology #NGDx16
8:42am August 26th 2016 via Hootsuite
Bick: From a single HiSeq X (okay this is HudsonAlpha), 3B 150bp reads in 3d; points out how NGS best at SNVs, but weak at others #NGDx16
8:41am August 26th 2016 via Hootsuite
Bick: Will be talking about how we deploy genomics today - rare disease Dx, cancer, and 'elective genomics' #NGDx16
8:39am August 26th 2016 via Hootsuite
Bick: Asks the audience how many have had genetic testing of any kind, and over 50% raise their hands. Increasingly common. #NGDx16
8:38am August 26th 2016 via Hootsuite
David Bick (HudsonAlpha) Genomic sequencing in the clinic: today and tomorrow #NGDx16
8:37am August 26th 2016 via Hootsuite
RT @h2so4hurts: RW: Points out that looking for abnormalities in women under 35 is "Fishing in an ocean with no fish." #NGDx16
8:36am August 26th 2016 via Hootsuite
The first winning device of the conversational era | Tim O'Reilly | LinkedIn https://t.co/hQASIVDvjA
7:16am August 26th 2016 via Hootsuite
RT @h2so4hurts: .@DaleYuzuki out in the wild #NGDx16 https://t.co/xLoBwozr7f
9:14pm August 25th 2016 via Hootsuite
RT @h2so4hurts: Anyone else surprised Dale's the only one with a full plate? #stopTalkingAndStartEating @DaleYuzuki #NGDx16 https://t.co/u0…
RT @PacBio: Precision Medicine Review highlights need for accuracy/comprehensiveness in sequencing https://t.co/vFA1EUWg6e @euanashley
6:55pm August 25th 2016 via Hootsuite
Putcha: At MolDx, 94% of the Dx tests were LDTs. Justifying paying more for an IVD, but is 'completely backwards' #NGDx16
4:10pm August 25th 2016 via Hootsuite
