Feinberg: What if some signal for stochastic var related to common SNPs? And why in the context of evolution? #AMP2017
10:47am November 16th 2017 via Hootsuite
Feinberg: Like quantum mechanics where stochastic variation plays a fundamental role. '10 PNAS https://t.co/9xViWAMn9Q #AMP2017
10:46am November 16th 2017 via Hootsuite
Feinberg: #AMP2017 Dirac - quantum theory - tiny. And then an idea struck him - stochastic epigenetic var as a driv… https://t.co/hp6jNWhpLE
10:45am November 16th 2017 via Hootsuite
Feinberg: While visiting Big Ben in London, '09: shows difference between Newton's grave (elaborate) and Darwin's grave (simple). #AMP2017
10:44am November 16th 2017 via Hootsuite
Feinberg: Points out that common var's explain only 1-10% of common disease. Vogelstein's paper -… https://t.co/gX7jaDl0Fa
10:42am November 16th 2017 via Hootsuite
Feinberg: Meeting 'missing heritability in common disease' NIH conference, he had only 7 minutes! Battle over comment in publ. #AMP2017
10:39am November 16th 2017 via Hootsuite
Feinberg: Clustering from '09 ref: stochastic var in DNAm in isogenic mice: is there a conserved driver for epigenetic var? #AMP2017
10:38am November 16th 2017 via Hootsuite
Sabath (Univ WA) '09 from Feinberg's group Nature Gen https://t.co/Xm2qd92XCw that looked at 4.6M CpG's genomewide via method CHARM #AMP2017
10:36am November 16th 2017 via Hootsuite
What an interesting way to look at tissue-specific developmental changes. Daniel Sabath #AMP2017 https://t.co/Jd4JkNdUzv
10:30am November 16th 2017 via Hootsuite
Harris con't:Sarcomas likely have oncogenic fusion. In 9pts, had enough smaple to send for RNA seq to look for fusions #AMP2017
9:58am November 16th 2017 via Hootsuite
Q: Comment on employing other genomic technology (i.e. RNA) Harris: If enough sample, aCGH. If CNA led to inc expression, then IHC #AMP2017
9:57am November 16th 2017 via Hootsuite
Q: What was TAT for iCat? Harris: On the order of months. Realistically: 4 weeks. Sending samples, review, sending out... #AMP2017
9:54am November 16th 2017 via Hootsuite
Harris: Also how to design assays to 'balance competing factors' - limited input vs. broad genomic assessment. iCat… https://t.co/yehTYzuaPx
9:53am November 16th 2017 via Hootsuite
Harris: Unanswered Q's: impact of receiving matched Rx on outcome; factors influencing receipt of matched Rx #AMP2017
9:52am November 16th 2017 via Hootsuite
Harris: Also ID'd 11 pts with potential germline variants for cancer risk, even though germline samples were not provided. #AMP2017
9:51am November 16th 2017 via Hootsuite
Harris: 3/31 pts with rec received matched targeted Rx. Either clin trial not available, pt's clinical status (seco… https://t.co/UiUXQOQ3ip
9:49am November 16th 2017 via Hootsuite
Harris: Majority were Tier 3/4: some evidence for that tumor type. 58% no rec; 31% iCat recommendation. 11% technic… https://t.co/VJqNpOF6iM
9:47am November 16th 2017 via Hootsuite
Harris: CNA were via Agilent 4x180 cancer array; Showed busy slide of results - SV's (CNVs and Fusions) very impt.… https://t.co/kb8QBS9FRm
9:46am November 16th 2017 via Hootsuite
Harris: Showed all the tissue types from this '16 JAMA Oncol paper https://t.co/td4Vmu6kIb #AMP2017
9:42am November 16th 2017 via Hootsuite
Harris: (Dana Farber news about iCat https://t.co/L4akT0waWJ ) 100 pediatric patients. Showed high demand, expected… https://t.co/AJEabsswdK
9:41am November 16th 2017 via Hootsuite
Harris: Called iCat, samples sent to Dana Farber, molecular testing, expert panel review, letter of treatment back to host inst. #AMP2017
9:40am November 16th 2017 via Hootsuite
Harris: Looked at feasibility of Precision Med for pediatric recurrent, refractory, or high risk solid tumors #AMP2017
9:39am November 16th 2017 via Hootsuite
Harris: "Small x small x small x small" = tiny. But successes have been reported - 2.5yo with met inflammatory myfi… https://t.co/V5Xw5BIybc
9:38am November 16th 2017 via Hootsuite
Harris: Rare, few sequence alterations, small biopsies (from small people), few trials and drugs #AMP2017
9:37am November 16th 2017 via Hootsuite
Harris: Starts with ACS Siegel 2017 chart of '17 new cancer cases. Ref: https://t.co/BIF3wAVxEw Points out rarity of pediatric ca #AMP2017
9:36am November 16th 2017 via Hootsuite
Marian Harris (Boston Childrens Hosp) Molecular Diagnostics in Multi-Institutional Trials: A Pathologist's Perspective #AMP2017
9:35am November 16th 2017 via Hootsuite
Williams: Acknowledges pts, physicians, NCI clinical trials network, a core group of about 150 and 18 working groups. #AMP2017
9:33am November 16th 2017 via Hootsuite
Williams: 19 arms are still open - b/c the hit rate was less than 1.5%. Listed new federal register notice: Vol 82… https://t.co/kqBrvzKfHK
9:32am November 16th 2017 via Hootsuite
Williams: Not a screen specifically for MATCH, but if they have one of the rare var's, will then enroll. #AMP2017
9:30am November 16th 2017 via Hootsuite
Williams: 6K pts enrolled in less than 2y; but a few arms are still open. FMI, MSKCC, Caris are up and running, screening routinely #AMP2017
Williams: Variant occurrence less freq than expected - from 3.47% down to 0%. Some underwent 15 protocols before en… https://t.co/ntvHiPnZDz
9:29am November 16th 2017 via Hootsuite
Williams: Problem cases no pathology report, or no tumor in sample. One arm - no variant found yet to put on a protocol #AMP2017
9:28am November 16th 2017 via Hootsuite
Williams: 60% of samples were considered rare tumor types. Goal of TAT was 14d; currently 16d. 20% of cases 'were problem ones'. #AMP2017
9:27am November 16th 2017 via Hootsuite
Williams: Details of this validation published JMD Mar '17 https://t.co/DkM2Rr6rK4 #AMP2017
9:26am November 16th 2017 via Hootsuite
Williams: Looked at cross user, instrument, lab, and day: 'well above 95%'. Able to get 5560 of 5962 samples. 93% vs 80% common. #AMP2017
9:25am November 16th 2017 via Hootsuite
Williams:Showed one lab (MGH) with CNV at only 80% sens. Turned out sample was 3.7 copies, when threshold was 5 #AMP2017
9:23am November 16th 2017 via Hootsuite
Williams: Spec was 'very inpt to us'. Acceptance critera was 95% for SNVs, indels, CNV, fusion were all set at 90%.… https://t.co/I255OAX1kg
9:22am November 16th 2017 via Hootsuite
Williams: For perf testing: as many different types as they could. 186 samples, 15 tissue types for sensitivity study #AMP2017
9:21am November 16th 2017 via Hootsuite
Williams: Feasibility 'turned out phenomenal'; assay performed 'extremely well in this blinded test'. Harmonized, locked SOPs #AMP2017
9:20am November 16th 2017 via Hootsuite
Williams: Run under FDA's 'Abbreviated IDE' - non-significant risk, updated clinical trial binders/docs, version SOP, site audits #AMP2017
9:19am November 16th 2017 via Hootsuite
Williams: Intended use: assay for enrollment and selection of Rx; assay is integral to this; pre-analytic process,… https://t.co/tAGYiNDO0a
Williams: Oncomine v2 and v3 done in 'real-time', could pull labs offline for validation, then migrate through. So… https://t.co/JGV5KmN6Bg
9:18am November 16th 2017 via Hootsuite
Williams: Used Oncomine v1, 143 genes, 4066 annotated var's, RFP selected the four initial labs. #AMP2017
9:17am November 16th 2017 via Hootsuite
Williams: In 2012 - sent an RFI, asked clinicians what was needed - core needle biopsy low input, accurate seq from… https://t.co/lndETe4Xrl
Williams: After Ion Torrent sequencing, BAM files to a matching algorithm called 'Matchbox'. Up-front - shipping ki… https://t.co/N6QLFraQqy
9:16am November 16th 2017 via Hootsuite
Williams: Biopsy sent to MDACC, archived and PTEN IHC and NA extracted. Sent to 4 lab network (20ng FFPE DNA/10ng FFPE RNA). #AMP2017
9:15am November 16th 2017 via Hootsuite
Williams: Four centers, MDA (Stan Hamilton), MGH (John Iafrate), Yale (Jeff Sklar), NIH (Frederick) and recently Da… https://t.co/HrHys2t4qf
9:14am November 16th 2017 via Hootsuite
Williams: Also open to pts refractory to Rx. Shows decision tree; it's a 'signal finding trial'. May only be 31 pts… https://t.co/FJb5FPmOY7
9:13am November 16th 2017 via Hootsuite
Williams: Example BRAF V600E melanoma response to BRAFi or BRAFi + MEKi. Open to solid tumors, lymphomas, melanoma, rare tumors #AMP2017
9:11am November 16th 2017 via Hootsuite
Williams: Will give an overview and focus on the assay. Precision medicine defined: tailring Rx for each individual… https://t.co/rJTm1APRDQ
9:10am November 16th 2017 via Hootsuite