(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

9:16am August 26th 2016 via Hootsuite

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

9:07am August 26th 2016 via Hootsuite

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: Anyone else surprised Dale's the only one with a full plate? #stopTalkingAndStartEating @DaleYuzuki #NGDx16 https://t.co/u0…

9:14pm August 25th 2016 via Hootsuite

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

Stephanie Shulman (NY State) "The biggest issue is with intended use, with little or no data". They've been reviewing LDTs for years #NGDx16

3:46pm August 25th 2016 via Hootsuite

.@h2so4hurts Touche! 'History is written by the victors.' :) #NGDx16

3:04pm August 25th 2016 via Hootsuite in reply to h2so4hurts

Putcha: Looking at screening or MRD, the NIPT analogy 'only goes so far' as they have not gone thru FDA. 'The bar is very high' #NGDx16

3:02pm August 25th 2016 via Hootsuite

Casdin: Competition - illustrates Sequenom as a first-mover, once the fastest-growing (70% penetration y1) but didn't make it #NGDx16

2:53pm August 25th 2016 via Hootsuite

Eli Casdin (Casdin Capital) says that the most valuable portion of the diagnostic business is their distribution (sales) channel #NGDx16

2:52pm August 25th 2016 via Hootsuite

de Abreu: Data storage: cloud has higher latency, but local is large investment, maint., and limited disaster recovery options #NGDx16

11:49am August 25th 2016 via Hootsuite

de Abreu: For completeness of coverage, Ion CHPv2 expect 2 drop-outs; TruSeq dependency of DNA quality (<3 or >3; higher=worse) #NGDx1

11:47am August 25th 2016 via Hootsuite

de Abreu: Some companies will do end-to-end they've tried: PierianDx, QCI Analyze/interpret, N of One (partial) #NGDx16

11:42am August 25th 2016 via Hootsuite

de Abreu: 3 QC data analysis steps; Increasing manual process post-variant calling. Filtering, manual seq rev; curation v impt #NGDx16

11:40am August 25th 2016 via Hootsuite

de Abreu: Workflow on pre-post extraction; library prep and data analysis are starred, where QC steps occur #NGDx16

11:36am August 25th 2016 via Hootsuite