Leonard: Evidence collected over time; incentives for data repository; adjustments made over time to benefit pts #AMP2016

7:11am November 11th 2016 via Twitter Web Client

Leonard: A pathway for coordination - whether IVD, LDT or other NGS or other technology. Evidence for CDx together or indep #AMP2016

7:10am November 11th 2016 via Twitter Web Client

Leonard: Rec 2: New HHS new integrated federal review process involving FDA and CMS. Coordinate reg, coverage, reimb #AMP2016

7:09am November 11th 2016 via Twitter Web Client

Leonard: Rec 1: HHS Sec should facilitate dev of common clinical util evidentiary stds. Get variety of stakeholders (long list) #AMP2016

7:08am November 11th 2016 via Twitter Web Client

Leonard: Shows graphic w/Patients in the center: supportive policy, supporting data infrastructure, processes to improve care #AMP2016

7:06am November 11th 2016 via Twitter Web Client

Leonard: Themes: accurate, reliable and clin useful are key. Substation 'variation in the evidence used to inform reg, reimb. #AMP2016

7:06am November 11th 2016 via Twitter Web Client

Leonard: Pharma, academics, industry in this study. Goal: Examine policy for targeting Rx. Not all biomarker or IVDs, but targeted #AMP2016

7:04am November 11th 2016 via Twitter Web Client

Debra Leonard (Univ VT) Biomarker Tests for Molecularly Targeted Rx: Key to Unlocking Precision Medicine, an IOM Report #AMP2016

7:03am November 11th 2016 via Twitter Web Client

Butte: 'This is how science gets out of the lab and into the real world' - investor funds to get it commercialized #AMP2016

10:40am November 10th 2016 via Hootsuite

Butte: $20B in direct costs; 4 drugs in trials; Dx is 50y old protein test. Used db's, 266 labs w/data. Now a company Carmenta #AMP2016

10:40am November 10th 2016 via Hootsuite

Butte: Getting to Dx: Healthy vs disease via microarray gene sigs. Preeclampsia, 5-8% of all pregnancies, 300K cases in US #AMP2016

10:37am November 10th 2016 via Hootsuite

Butte: ICD-9 (2012) - didn't take into account pathology of lung ca. Lg vs squamous? 'left or right lung' Need to move beyond it #AMP2016

10:34am November 10th 2016 via Hootsuite

Butte: There's a code for getting 'sucked into a jet engine' ICD-10 Code V97.33XD (!) #AMP2016

10:33am November 10th 2016 via Hootsuite

Butte: Number 45 "Cancer of other organs" had lung, brain as 'other'. #189 'Visitation from God' (!) 100y ago; laughing today... #AMP2016

10:32am November 10th 2016 via Hootsuite

Butte: Not only personal, but precision. Making physicians nervous - wasn't medicine precise before? ICD: coding causes of death #AMP2016

10:31am November 10th 2016 via Hootsuite

Butte: 'Even a high-school student can use public data to design a new diagnostic test!' https://t.co/IYchyY9QN1 #AMP2016

10:28am November 10th 2016 via Hootsuite

Butte: (And that's only for breast ca) 3K labs' data for free. Describes it as 'retroactive crowdsourcing' (!) #AMP2016

10:26am November 10th 2016 via Hootsuite

Butte: Reviews the scale of Affymetrix chips, from single-sample, 96- then 384-sample formats. GEO Datasets: 3K labs, 71.3K smpls #AMP2016

10:25am November 10th 2016 via Hootsuite

Atul Butte (UCSF CA) Translating a Trillion Points of Data into Therapies, Diagnostics, and New Insights into Disease #AMP2016

10:24am November 10th 2016 via Hootsuite

RT @JLaudadioMD: Scientific method becoming obsolete. We already have the #data, what are we going to do with it? Butte #AMP2016 #AMPlifier

10:23am November 10th 2016 via Hootsuite

RT @drbachinsky: SeraCare Life Sciences collaborates with ArcherDX on RNA Fusion Reference Standards https://t.co/jDgBLoJEZB

8:35am November 10th 2016 via Hootsuite

Q: A future for point mutation assays? Costa: "I'm biased toward NGS' #AMP2016

7:50am November 10th 2016 via Hootsuite

Q: TAT on your panel? Costa: 4w, working toward 2w #AMP2016

7:50am November 10th 2016 via Hootsuite

Costa: Shows IGV that there's a G857G silent mutation in cis with L858R allele, explaining why the EGFR genotyping failed #AMP2016

7:45am November 10th 2016 via Hootsuite

Costa: EGFR point mut was negative, targeted gene panel was positive. Point mut was extension PCR and fragment analysis #AMP2016

7:41am November 10th 2016 via Hootsuite

Costa: Lung ca is 27% of US adult cancer deaths; 4-5 mo median survival. 49yo Chinese male, Stg IV lifetime smoker #AMP2016

7:40am November 10th 2016 via Hootsuite

Helio Costa (Stanford CA) ID of a silent EGFR mutation leading to allele dropout in EGFR p.L858R #AMP2016

7:39am November 10th 2016 via Hootsuite

Heymann: NGS in this case provided diagnostic in addition to predictive and prognostic info. #AMP2016

7:37am November 10th 2016 via Hootsuite

Heymann: Calso a 467-gene comprehensive (custom Agilent) panel. MSI at 5 repeats. NGS didn't obviate need for other pred/prog info #AMP2016

7:36am November 10th 2016 via Hootsuite

Heymann: low-grade mucinous carcinoma, well-differentiated sarcoma. Used MSI (Promega) w/7 markers, CE via Genemapper. #AMP2016

7:32am November 10th 2016 via Hootsuite

Heymann: 87yo female, hematochezia, dyspnea on exertion. Anemic, former smoker, ileocolectomy performed #AMP2016

7:30am November 10th 2016 via Hootsuite

Jonas Heymann (Columbia NY) NGS panels aid in the diagnosis of collision tumors #AMP2016

7:27am November 10th 2016 via Hootsuite

Miller: There have been reports of morphologic transformation of ALK-rearr lung adenocarcinoma to sc lung, perh worse prognosis #AMP2016

7:24am November 10th 2016 via Hootsuite

Miller: 29 gene targeted was negative. ALK, ROS1, RET, METampl by FISH all negative. ALK IHC showed rearr present #AMP2016

7:22am November 10th 2016 via Hootsuite

Miller: 3y later, different pathology. High-grade, neuroendocine tumor. TTF-1+, CK7+, Synaptophysin+, CK20-. #AMP2016

7:21am November 10th 2016 via Hootsuite

Miller: 73yo fem w/NSCLC IHC TTF-1+. ALK rearr by FISH. Resection showed Stg IIB, PET, MRI met-neg. No ALK TKI Rx, no adjuvant use #AMP2016

7:20am November 10th 2016 via Hootsuite

Jill Miller (Univ Vermont) ALK-rearranged Adenocarcinoma to metastatic neurendocrine carcinoma retaining rearrangement #AMP2016

7:18am November 10th 2016 via Hootsuite

Q: If alt-splicing, wouldn't FISH detect? Mann:Could be alt transcription initi, truncated xcripts that may be functional dimer #AMP2016

7:17am November 10th 2016 via Hootsuite

(That was it!) Q: Pt Rx? Mann: Were on platinum Rx, and expired #AMP2016

7:15am November 10th 2016 via Hootsuite

Mann: Poss FN FISH, FP IHC; but no prior exons (18 and before). Could be atypical fusion, wt expression of ALK, also alt xcrption #AMP2016

7:14am November 10th 2016 via Hootsuite

Mann: Their case actually had exon 19 exp in addition to exons 20-22, unlike ordinary ALK fusions. No fusion in their case. #AMP2016

7:13am November 10th 2016 via Hootsuite

Mann: With ALK, have exons 19-22; normal lung has no expression. ALK fusion neg, also no exp. But ALK fusions have Exons 20-22 #AMP2016

7:11am November 10th 2016 via Hootsuite

Mann: Describes ArcherDX assay (see Press Release https://t.co/SERXmLFKIM ) Also gives mRNA expression data #AMP2016

7:10am November 10th 2016 via Hootsuite

Mann: mRNA easier: capture ALK cDNA, either anchored multiplex or directed opposing PCR primer. #AMP2016

7:08am November 10th 2016 via Hootsuite

Mann: 26-gene targeted came up with KRAS activating mut. Moving back to ALK fusion description, difficulty of intron break det. #AMP2016

7:07am November 10th 2016 via Hootsuite

Mann: 73yo male, Stage IV w/mets to liver and bone. ALK IHC, ROS1 tests. ALK pos by Ab-staining. Reflex to FISH was negative #AMP2016

7:06am November 10th 2016 via Hootsuite

Patrick Mann (Univ CO Hospital) ALK Expression in NSCLC not assoc'd w/ ALK Rearr. by FISH or by Targeted NGS-based Fusion Assay #AMP2016

7:04am November 10th 2016 via Hootsuite

Good morning #AMP2016 - Case Studies in Solid Tumors for the next session.

7:04am November 10th 2016 via Hootsuite

Walgreens Sues Theranos | GenomeWeb https://t.co/uIE58cW1R1

10:25pm November 9th 2016 via Hootsuite

Scientists And Doctors Are Freaking Out About A President Trump - BuzzFeed News https://t.co/HcMjM79VvS

9:10pm November 9th 2016 via Hootsuite