Mansfield: Need to see evaluation as part of end-to-end; var types, seq context, FASTQ file testing indel accuracy #NGDx16
11:45am August 24th 2016 via Hootsuite
Mansfield: Need to know the result; coverage the metric that 'always should be used', looking for comment; end-to-end test system #NGDx16
11:44am August 24th 2016 via Hootsuite
Mansfield: Worry about pseudogenes, cross-contamination issues. Min perf thresholds - accuracy 99.9% and precision 95% (95% CI) #NGDx16
11:43am August 24th 2016 via Hootsuite
Mansfield: Different informatics pipelines, interpretation software and human interpretation. Thus: what performance metrics? #NGDx16
11:40am August 24th 2016 via Hootsuite
Mansfield: Design stds need iteration; informed by intended use and indication. Could be from clinician or lab; det perf needs #NGDx16
11:39am August 24th 2016 via Hootsuite
Mansfield: 'Stds orgs can do this much more quickly'; they are req'd to have consensus of all stakeholders. Not just one sector #NGDx16
11:37am August 24th 2016 via Hootsuite
Mansfield: Technical rec's: describes approach to test design, accommodates different designs, components, indications. #NGDx16
Mansfield: Draft guidances for public comment; targeted or WES. Others in future: inf disease, NIPT, liquid biopsy, solid tumor #NGDx16
11:36am August 24th 2016 via Hootsuite
Mansfield: Started with inh genetic diseases b/c it was felt it was understood better, as a place to start. #NGDx16
11:32am August 24th 2016 via Hootsuite
Mansfield: Purpose of draft guidelines - anticipate needs, dev. an efficient path-to-market. Standards, databases, open processes #NGDx16
RT @h2so4hurts: JO: Platelet cloaking prevents cancer cells from releasing into the blood stream - hard to collect from the relevant reserv…
11:23am August 24th 2016 via Hootsuite
.@h2so4hurts Yes not only platelet but also WBC cloaking, CTC biology is complex #NGDx16
11:23am August 24th 2016 via Hootsuite in reply to h2so4hurts
RT @h2so4hurts: JO: Clinical detection of CTC's needs multiple read-outs for appropriate identification - Genetics, Histology, etc - CTC-5…
11:22am August 24th 2016 via Hootsuite
RT @h2so4hurts: JO: CTC's also contain cells that won't survive metastasis so how relevant this reservoir is is a huge question #NGDx16
RT @h2so4hurts: JO: CTC's don't just pop into the bloodstream, basically what's in the blood may not be what's in the tumor #NGDx16
RT @h2so4hurts: JO: Lots of mystique and over-promising in this field. Wants to bring us back to earth and explain the limitations - YES TH…
11:21am August 24th 2016 via Hootsuite
RT @CHI_Healthtech: #NGDx16 Keynote at 11:15 Today: Elizabeth Mansfield to Present “Implementing President Obama’s #PrecisionMedicine Plan…
11:20am August 24th 2016 via Hootsuite
RT @h2so4hurts: .@DaleYuzuki and his entourage. #NGDx16 https://t.co/AE1YO23hlS
.@h2so4hurts Ha ha - stalking me at #NGDx16 I see! (Hey, if you are free to speak on-camera please let me know!)
11:20am August 24th 2016 via Hootsuite in reply to h2so4hurts
@SeraCare VP of Precision Medicine kicking off #NGDx16 Plenary Session introducing Liz Mansfield (FDA) https://t.co/dsPPV0GXDj
11:18am August 24th 2016 via Hootsuite
.@thatdnaguy Understood - perhaps a cheap chromebook? Once I live tweeted from my iPhone in Shenzhen, vowed to never try that again...
10:32am August 24th 2016 via Hootsuite in reply to thatdnaguy
Tezak: Focus was on germline. #NGDx16
9:10am August 24th 2016 via Hootsuite
Tezak: Key themes: design process; perf standards; Interest in precisionFDA; need for transp for data; datasharing impt #NGDx16
Tezak: FDA's press release on their two draft guidances - dev of standards, and genetic databases https://t.co/sEscVJGglg #NGDx16
9:06am August 24th 2016 via Hootsuite
Tezak: FDA's role in PMI is to optimize regulatory oversight of NGS tests; to protect pt safety, dev approach suited to NGS #NGDx16
9:05am August 24th 2016 via Hootsuite
Zivana Tezak (IVDRH/CDRH/FDA) NGS-based tests: understanding performance, sharing data, and providing transparency #NGDx16
9:03am August 24th 2016 via Hootsuite
Fernandes: Promotes pt-centered def'ns of clinical utility; advocates adoption; recognizes critical role of molecular professionals NGDx16
9:01am August 24th 2016 via Hootsuite
Fernandes: Shows new AMP paper Joseph et al https://t.co/40m55X61XB defining clinical utility for inh disease and cancer #NGDx16
9:00am August 24th 2016 via Hootsuite
Fernandes: Use of WES: Their test called EXaCT-1. Targeted panels can confirm WES. Sometimes insuff DNA for WES, 2w TAT #NGDx16
8:57am August 24th 2016 via Hootsuite
Fernandes: Another case, cholangiocarcinoma (hepatic), found IDH1, also TP53. Per TCGA, relatively common, found a clinical trial #NGDx16
8:56am August 24th 2016 via Hootsuite
Fernandes: pF1174V is common, F1174L rare, never reported in lung ca. Shown to be ALK-inh resistance after lit review #NGDx16
8:54am August 24th 2016 via Hootsuite
Fernandes: 40y female asian case study: Stage IV, stable for 1y after crizotinib, secondary Rx, relapse, 3rd Rx. Found ALK SNV #NGDx16
8:53am August 24th 2016 via Hootsuite
Fernandes: DiffQuick vs Pap smear vs cell block; more variants ID'd from alcohol-fized Pap smears #NGDx16
8:48am August 24th 2016 via Hootsuite
Fernandes: Skewed EGFR due to high prevalence of Asian patients they see. 40% of lung were FNA; cellularity 10-70% #NGDx16
8:44am August 24th 2016 via Hootsuite
Fernandes: For small 50-gene panel, did 1306 cases. 537 lung was major type. Showed distribution of lung mut's. EGFR 24% KRAS 28% #NGDx16
8:43am August 24th 2016 via Hootsuite
Fernandes: They ahve a 'spreadsheet converter' for interpretation / reporting, for input into their EPIC EMR system #NGDx16
8:42am August 24th 2016 via Hootsuite
Fernandes: They've developed a KB, publicly available. Link to Preprint: https://t.co/tpzyde7x1U #NGDx16
8:41am August 24th 2016 via Hootsuite
Fernandes: Oncomine Comprehensive panel enables enrollment into NCI-MATCH. Info: https://t.co/EQuLERT3Vj #NGDx16
8:39am August 24th 2016 via Hootsuite
Fernandes: Their choice driven by small input amounts for solid tumor; also HiSeq for exomes. #NGDx16
8:38am August 24th 2016 via Hootsuite
Fernandes: Quickly runs down their capabilities for clinical (heme panel on MiSeq; solid tumor on PGM, larger solid tumor on S5) #NGDx16
.@thatdnaguy What I do: live-tweet from a laptop with an external battery. My corporate laptop uses this - 8+ hours https://t.co/4GzQzoJQZK
8:37am August 24th 2016 via Hootsuite in reply to thatdnaguy
Helen Fernandes (Weill Cornell) “What caught my eye is 24% of respondents spent zero time on informatics” #NGDx16 https://t.co/tjg11ezz7e
8:34am August 24th 2016 via Hootsuite
The Way Medicine Is Going (commentary on precision medicine via San Diego Union-Tribune | GenomeWeb https://t.co/yMvwgvffQ9
8:07pm August 23rd 2016 via Hootsuite
Housman: Mentions In Vitae's 2015 'patient-pay' offer - $475 https://t.co/fvgXIR24vc #NGDx16
5:13pm August 23rd 2016 via Hootsuite
Housman: $101M spent in the US by one organization - CTCA (60% of all cancer centers in US) #NGDx16
5:11pm August 23rd 2016 via Hootsuite
Housman: Physician's missed opportunities to reduce out of pocket ref https://t.co/0i423cy7DK #NGDx16
Housman: 'Insurance should take care of (BRCA testing)' but pt will say 'I can't afford it - are there alternatives?' #NGDx16
5:08pm August 23rd 2016 via Hootsuite
Housman: Covered by policy, but not by insurance: actual transcript where the doctor 'We don't want to talk about that' #NGDx16
Housman: Cancer care has disproportionate 'out of wallet' - 1/3 of Rx, 1/3 of ambulatory care. Pts fear being labeled 'difficult' #NGDx16
5:05pm August 23rd 2016 via Hootsuite
Housman: Co-payments, co-insurance, deductibles environment means cost sharing affecting Rx. 40% hi-ded plan delays or avoids care #NGDx16
5:04pm August 23rd 2016 via Hootsuite
