Kingsmore: Doesn't think WES is better than WGS, although a useful alternative. He's currently pushing boundaries. #TCGC15
2:47pm June 24th 2015 via Hootsuite
Wenicke (7 Bridges) MT @bioinfomagician: There's no good means of sharing code efficiently; methods aren't well described #GenomicsFest
Kingsmore: 8 NIH programs devoted to genomic medicine. Excited about prospects of unusual funding sources for precision medicine #TCGC15
2:34pm June 24th 2015 via Hootsuite
To get a screening test, you need a USPSTF ruling 'hi bar' ACA req has payer 'must cover' but CMS has discretion #TCGC15
2:31pm June 24th 2015 via Hootsuite
Panel discussion: Rina Wolf, XIFIN "The reimbursement landscape in the past 2-3 years has become scorched" #TCGC15
2:25pm June 24th 2015 via Hootsuite
Searching Pubmed Moscowitz DW his last publication was in 2004. http://t.co/dLDITgsfRC Nice to hear strong rebuttal from audience #TCGC15
2:14pm June 24th 2015 via Hootsuite
RT @FLGenomics: @activemotif Introducing Festival of Genomics California! http://t.co/7fPxZjDnm2 #GenomicsFest
2:12pm June 24th 2015 via Hootsuite
.@Smutt235 @antonioregalado @geochurch Only if you define 'monopoly' as >65% market share, which isn't the definition of monopoly...
2:01pm June 24th 2015 via Hootsuite in reply to Smutt235
David Moskowitz (Genomed) "Myths and Realities of Clinical Genomics" Wrote a recent piece (PDF) http://t.co/ncPAW8DS9c #TCGC15
1:49pm June 24th 2015 via Hootsuite
Marsh: ID'd 12 CpG sites for differential biomarker for TNBC vs normal. #TCGC15
1:45pm June 24th 2015 via Hootsuite
Marsh: Shows comparison between their method (GenPro-RE) and RRBS-Ox and BISMARK pipeline for Parkinson's disease samples #TCGC15
1:00pm June 24th 2015 via Hootsuite
Marsh:Fig from '02 CpG islands from 10K genes: http://t.co/xyoCEtj0Iw His platform uses methyl-sens. restriction enzymes and NGS #TCGC15
12:51pm June 24th 2015 via Hootsuite
RT @antonioregalado: "I hope we never have a monopoly in genome sequencing," - George Church @geochurch #genomicsfest. Don't we?
12:49pm June 24th 2015 via Hootsuite
Marsh: Cost/sample 38% biological interpretation (2012) est to grow to 55% in 2020 '#TCGC15
12:47pm June 24th 2015 via Hootsuite
Marsh: Frost and Sullivan NGS data - global market $309M today, est $580M size in '18, CAGR 23%, ave $175 cost/samnple in '14 #TCGC15
12:46pm June 24th 2015 via Hootsuite
Marsh: Epigenetic mosaicism '10 NAR ref http://t.co/lnt0wQiuA3 variation #TCGC15
12:44pm June 24th 2015 via Hootsuite
Marsh: Dutch famine (winter 1944): Fig from '07 ref http://t.co/wJFM1SDJDC height measure, daughter's health affected not sons #TCGC15
12:40pm June 24th 2015 via Hootsuite
Marsh: Starts with this '01 Science ref http://t.co/TK1Hsn6BwP from extreme cold, nutrient deprivation. #TCGC15
12:38pm June 24th 2015 via Hootsuite
Adam Marsh (Univ DE; Genome Profiling, LLC) "Epigenetic Profiling of DNA Methylation to Identify Breast Tumor Aggressiveness" #TCGC15
12:35pm June 24th 2015 via Hootsuite
Monano: Requested unique CPT code, expected in '16. Q:Many payers? A:Medicare covered in '12; Aetna covered with ACCE principles #TCGC15
12:34pm June 24th 2015 via Hootsuite
Monano:Economic impact is large b/c invasive angiography is $$$. Results published '14 http://t.co/bhviNGg3vr #TCGC15
12:30pm June 24th 2015 via Hootsuite
.@mwilsonsayres 49%-61% of the newborns or children who underwent WGS or WES had pathogenic de novo mutations.
12:25pm June 24th 2015 via Hootsuite in reply to mwilsonsayres
Monano: 2011 COMPASS trial, low score=no further testing needed; >15 usual testing. Clinical utility: IMPACT n=676 pts #TCGC15
12:23pm June 24th 2015 via Hootsuite
Monano: Real-time PCR-based Corus CAD (some mention of NGS), high negative predictive value - 96%. ID symptomatic pts w/o obs CAD #TCGC15
12:21pm June 24th 2015 via Hootsuite
Monano: ACCE model: Analytic validity, Clinical validity, Clinical utility, Economic utility. CDC Fig: http://t.co/gjUe8rPAtS #TCGC15
12:20pm June 24th 2015 via Hootsuite
Monano: The 'innovators challenge': time gap from commercial launch of Dx product to reimbursement. Large capital req'd #TCGC15
12:18pm June 24th 2015 via Hootsuite
Monano: Obstructive CAD is not found in 60% of pts of 1M pts/year, $5.9B annual spend. #TCGC15
12:17pm June 24th 2015 via Hootsuite
Monano: CardioDx's Corus CAD: leveraging what was learned in cancer and apply it to CVD. Obstructive Coronary Artery Disease #TCGC15
12:16pm June 24th 2015 via Hootsuite
Monano: Evidence package: 'can never be too big'. And be as transparent as possible for commercial payers. Unique CPT code valuable #TCGC15
12:14pm June 24th 2015 via Hootsuite
Monano: Is the test used to rule out or rule in a condition? Take time to est. clinical and economic utility. Influence physicians #TCGC15
12:13pm June 24th 2015 via Hootsuite
Monano: Main points: understand clinical need for the test. Assess analytic validity (getting same result) and clinical validity #TCGC15
12:12pm June 24th 2015 via Hootsuite
Mark Monano CardioDx :Clinical Validity, Clinical Utility & Economic Utility of a Blood-Based Test Inc Age, Sex and Gene Expression #TCG
12:10pm June 24th 2015 via Hootsuite
Kingsmore:A2:Does this scale to popul'n screen? Need to think carefully about the ROC for screening. Inevitable, need more evidence #TCGC15
12:08pm June 24th 2015 via Hootsuite
Kingsmore:Q:Newborn gene panel for 1st line Dx? A:Parabase genomics involvement - 'the answer is clearly yes' #TCGC15
12:06pm June 24th 2015 via Hootsuite
Kingsmore: Over next 5y hopes to build model to determine who to choose to do WGS #TCGC15
12:05pm June 24th 2015 via Hootsuite
Kingsmore: Shows 7y Dx odyssey w/$35K on Dx alone. WES in 3d, $3K, next to POTUS mention of precision medicine in SOTU address #TCGC15
12:04pm June 24th 2015 via Hootsuite
Kingsmore: De novo mutation rates across 7 studies 49%-61% #TCGC15
12:02pm June 24th 2015 via Hootsuite
Kingsmore: Feels profound impact for family bonding. Dx rate overall summary across 7 studies: 27%-57% Highest yield in their grp #TCGC15
12:01pm June 24th 2015 via Hootsuite
Kingsmore: Acute clinical utility observed in 65%; strongly favorable impact in mgmt in 20%. #TCGC15
11:59am June 24th 2015 via Hootsuite
Kingsmore: Their NICU in 3y: no phenotypic gave higher yield; 65% of WGS Dx were assoc'd with de novo mutations; rationale for trios #TCGC15
11:58am June 24th 2015 via Hootsuite
Kingsmore: Lancet Resp Med 15 pub - flowchart shown. 57% by WGS STATseq, 9% by std genetic tests. #TCGC15
11:56am June 24th 2015 via Hootsuite
Kingsmore: Able to get 3d result. Confirm testing - a coagulopathy w/liver failure, resolved on day 7, now 28m old, normal liver #TCGC15
11:55am June 24th 2015 via Hootsuite
Kingsmore: Analytic performance: Cp to GIAB 99.4% analyt. sens 99.4% spec. Our ROC is 'a ROC rectangle' #TCGC15
11:52am June 24th 2015 via Hootsuite
Kingsmore: Applies a series of automated annotations for pathogenesis, 1.6TB data, if a phone book 'a genome is 400 ft tall' #TCGC15
11:51am June 24th 2015 via Hootsuite
Kingsmore: Goes through trio sample collection, unpublished work shows 18h WGS on 'tuned HiSeq'. $3M of compute, using Edico HW #TCGC15
11:50am June 24th 2015 via Hootsuite
Kingsmore: (Correction: 5d for STATSeq, the 25d was for comparison.) Case from 2013: illus. 341 potential conditions #TCGC15
11:48am June 24th 2015 via Hootsuite
Kingsmore: Median time to confirmed Dx is 23d, recent retrospective ref: http://t.co/8NhRQvRIdw #TCGC15
11:47am June 24th 2015 via Hootsuite
Kingsmore: Thus timely Dx is very difficult. 14% of newboard (560K/y) 13.2d hosp stay at $76K. 2% lvl IV (80K/y) 49% preterm #TCGC15
11:44am June 24th 2015 via Hootsuite
Kingsmore: 6K named diseases, >20 discovered every month. Extreme clinical heterogeneity, more pronounced as maturing occurs #TCGC15
11:43am June 24th 2015 via Hootsuite
Kingsmore: Infants symptomatic for genetic disease: 4-8% of children dep on local population, breeding habits; outbred pop'ltns 4% #TCGC15
11:42am June 24th 2015 via Hootsuite
