Buckingham: 2014 validation study of the PAM50 in BMC Cancer https://t.co/xh3Ng95zyw #TRICON
4:30pm March 7th 2016 via Hootsuite
Buckingham: Their SD for prosigna score 2.9. Showed 5 pooled RNA samples cross-site: very low variance #TRICON
4:29pm March 7th 2016 via Hootsuite
Buckingham: Most impt for decentralized testing: reprod from 43 FFPE tissues; 3 diff labs, 3 different pathologiest, 3 tech's. #TRICON
4:28pm March 7th 2016 via Hootsuite
Buckingham: For br ca subtypes: LumB, LumA, Basal-like, HER2-enriched. Do corelation to centroids, risk of recurrance score (ROR) #TRICON
4:27pm March 7th 2016 via Hootsuite
Buckingham: '13: marketed in EU, Israel, US after CE and 510(k) clearance. #TRICON
4:26pm March 7th 2016 via Hootsuite
Buckingham:3407 FFPE samples for development: 514 for sig training; 256 for testing training; 1017 for study 1; 1620 for study 2 #TRICON
4:25pm March 7th 2016 via Hootsuite
Buckingham: PAM50 goes back to '00: br cancer subtypes based on microarray. to '09: described signature. '10 licensed to Nanostring #TRICON
4:24pm March 7th 2016 via Hootsuite
Buckingham: Mentions the need for pre-specification of the statistical analysis. Case study: for Prosigna Breast Cancer gene sig #TRICON
4:23pm March 7th 2016 via Hootsuite
Buckingham: ASCO: Levels of evidence. Points to chart from this '09 Simons https://t.co/fvfMSObzV9 #TRICON
4:21pm March 7th 2016 via Hootsuite
Buckingham: IOM report - clarifying genome-based diagnostics. 2012 https://t.co/OG7nFCPbXv #TRICON
4:19pm March 7th 2016 via Hootsuite
Wesley Buckingham (Nanostring) Best practices for training and validating gene expression signatures from FFPE samples #TRICON
4:16pm March 7th 2016 via Hootsuite
RT @biobdtodd: Jamie Platt of MPLN on cell-free DNA: don't ignore the effect of upstream processing on downstream results #TRICON
3:58pm March 7th 2016 via Hootsuite
Sabatini: Encourages others to take part in AMPs modeling of scenarios #TRICON
3:48pm March 7th 2016 via Hootsuite
Sabatini: For a plan of 1M members, $2.7M savings in treatment, increased progression-free survivial, and decrease in AE #TRICON
Sabatini: Summary: increase in cost of testing, offset of decreased conventional Tx, decreased AE, increased clinical trial options #TRICON
3:47pm March 7th 2016 via Hootsuite
Sabatini: Last model fo NSCLC. NCCN guidelines include 8 genes. Tx options were theoretical. #TRICON
3:46pm March 7th 2016 via Hootsuite
Sabatini: Shared Dutch study of 7y w/o diagnosis; 30% WES Dx yield; ave cost savings was $3500. #TRICON
3:44pm March 7th 2016 via Hootsuite
Sabatini: Medical exome modeling - total cost is over 6 mos, savings not as dramatic. But cost /Dx still $16K vs. $12K #TRICON
Sabatini:And substantial cost savings when multiplied out via their tool (in the $MM) #TRICON
3:41pm March 7th 2016 via Hootsuite
Sabatini: For hearing loss: shows flowchart of workup; shows AMP's budget impact model online. Yield grew from 25% to 36% #TRICON
Sabatini: The reached out to 57 labs, 24 KOLs, did micro-costing (3-5 labs/assay category), asses costs in equipment, labor etc #TRICON
3:36pm March 7th 2016 via Hootsuite
Linda Sabatini (NorthShore) "An accurate diagnosis impacts the economics of health" #TRICON
3:33pm March 7th 2016 via Hootsuite
Joseph: Concludes with Payros as lines of defense, Clincians as paths of attack. #TRICON
3:31pm March 7th 2016 via Hootsuite
Joseph: Finding a mutation: "what do I do with it now?" Min Residual Disease: tumor DNA and cells in circulation #TRICON
3:28pm March 7th 2016 via Hootsuite
Joseph: NCI-Match - 'find home runs but not base-hits' with 25 trial arms, no control arms. ID'd frequent pre-analytical problems #TRICON
3:27pm March 7th 2016 via Hootsuite
Joseph: New clinical trial designs - umbrella designs (ALCHEMIST, Lung-MAP) basket designs #TRICON
Joseph: Ex.: BRAF V600E in Hairy Cell Leukemia, melanoma. 'off-label' is 'NOT popular with drug co's' less so under trial #TRICON
3:26pm March 7th 2016 via Hootsuite
Joseph: Most genes will not have clinical utility; pts have failed all std therapy. Now ask if an agent might work. #TRICON
3:25pm March 7th 2016 via Hootsuite
Joseph: For prognosis: impacts outcome, (not much to say here, studies underway). Predictive: nat'l efforts underway #TRICON
3:24pm March 7th 2016 via Hootsuite
Joseph: Points to this '14 Cell https://t.co/dKUntfzi2w across 12 cancer types #TRICON
3:23pm March 7th 2016 via Hootsuite
Joseph: tCGA, ICGC analyzed 100's of tumors for most major tissue types and multiple 'omic methods; novel molecular classifications #TRICON
3:22pm March 7th 2016 via Hootsuite
Joseph: Gene expression profile - is 'a diagnosis that is still essentially histological' #TRICON
3:20pm March 7th 2016 via Hootsuite
Joseph: 'A shortage of genetic counselors is likelty to be rate-limiting' #TRICON
Joseph: For cancer susceptibility: can sequence all known high risk and moderate risk genes; but who to test is a question #TRICON
3:19pm March 7th 2016 via Hootsuite
Joseph: NGS vs Sanger: >2-3 genes 'less expensive'. Considerably more sensitive; can use small input amts #TRICON
3:18pm March 7th 2016 via Hootsuite
Joseph:Hotspot mutation analytic validity 'is excellent'. 95-99%. CNV quantitation 'rapidly improving' https://t.co/s6XAxbG30S #TRICON
3:16pm March 7th 2016 via Hootsuite
Joseph:But formal def'n of clnical utility does not include cost. Single-cell pan-omic analysis of $1M may have utility... #TRICON
3:15pm March 7th 2016 via Hootsuite
Joseph: After tens of thousands of exomes/genomes, 'still a tough problem'. Definition of clinical utility: improving outcomes #TRICON
3:14pm March 7th 2016 via Hootsuite
Joseph: Other Tx: targeted therapy, immunotherapy. Shows Enigma and an @iontorrent Proton #TRICON
3:13pm March 7th 2016 via Hootsuite
Joseph: Learning the enemy's order of battle - individual cells with hetergeneity; metastases; indiv cells; Tx radiation, chemo... #TRICON
3:12pm March 7th 2016 via Hootsuite
Joseph: The . 'What has been accomplished on the War on Cancer" froman article from the NY Times in 1912 #TRICON
3:11pm March 7th 2016 via Hootsuite
Loren Joseph (Beth Israel) "Intelligence in the war on cancer: the utility of molecular genetic analysis" #TRICON
3:10pm March 7th 2016 via Hootsuite
Lyon: Many types of data to show pathogenicity - segregation, de novo, bioinformatic. Concl "many 'utilities' for molecular testing #TRICON
3:09pm March 7th 2016 via Hootsuite
Lyon: ClinVar - MSH2 differences in intepretation; a 20 minute phone call resolved it. #TRICON
3:08pm March 7th 2016 via Hootsuite
Lyon: Twin brother was unaffected, had the mutation; important clinical information that needs to be shared TRICON
Lyon: Showed usefulness of WES; general Dx yield of 25%; severe ID is lower (15%). Familial Rett Synd. MECP2 gene #TRICON
3:07pm March 7th 2016 via Hootsuite
Lyon:: Covers many varying conditions of rare disease w/skeletal disease. 50-60% clinical sensitiivty. #TRICON
3:06pm March 7th 2016 via Hootsuite
Lyon: One case: affected male, dev delay; X28 loss via cyto-microarray, specific followup. #TRICON
3:05pm March 7th 2016 via Hootsuite
Lyon: To est. clinical utility - randomized prospective studies. Testing symptomatic individuals, impt to test pre-symptomatic #TRICON
3:02pm March 7th 2016 via Hootsuite
Lyon: ~4600 Mendelian disorders; PGx: 100% individual drug metabolism. Points to '91 Fryback et al https://t.co/bXiyhEWeYp #TRICON
3:01pm March 7th 2016 via Hootsuite
