James Lim (Xcell Sciences) Recent advances in cell culturing techniques and its impact on the field of clinical diagnostics #TRICON
11:15am March 9th 2016 via Hootsuite
Pothier: Financing examples: Twist $61M, Codiak $61M, exosomedx $50M; 7bridges $45M; Personalis $33M; PGD $21M #TRICON
11:13am March 9th 2016 via Hootsuite
Pothier: Pertnership examples: 23andMe/Genetech; Merck/Illumina; TMO/AZ; Guardant/Flatiron #TRICON
Pothier: Reviews M&A - Abbott/Alere (POC); TMO/Affy; Juno/AbVitro (single-cell); B-D/Cellular Research; Adaptive/Sequenta #TRICON
11:12am March 9th 2016 via Hootsuite
Kristin Pothier (Ernst Young) Starts with trends: Immuno-oncology; single-cell sequencing 'becomes a reality'; genome editing; Dx/Rx #TRICON
11:11am March 9th 2016 via Hootsuite
The #TRICON emerging tech plenary, w/7-min ‘what’s the problem you are solving’ with @SeraCare and @NanoString https://t.co/Ab13mH6LZF
11:06am March 9th 2016 via Hootsuite
Oxford Nanopre's "No thanks, I've already got one" Omics! Omics! blog https://t.co/5wqqnKyL9F
9:57am March 9th 2016 via Hootsuite
At #TRICON, Researchers Present Novel PCR Approaches to Liquid Biopsy | GenomeWeb https://t.co/LqhlobJOir
6:45pm March 8th 2016 via Hootsuite
Voelkerding: Lab receives 10ug DNA, see list of genes tested (WGS, WES or panel), and checks it off and sends info back #TRICON
6:37pm March 8th 2016 via Hootsuite
Voelkerding: For proficiency, 200 chr positions chosen for CAP genome. ~139 labs participated in '15 NGS PT (!) #TRICON
6:36pm March 8th 2016 via Hootsuite
Voelkerding: Not trivial issue, affects how test is validated. Need integrated, methods-based validation. Now moving to gene-based #TRICON
6:28pm March 8th 2016 via Hootsuite
Voelkerding: Std model: Single CLIA license, but some steps outsourced.For bioinf support: a distributive model, need CLIA lic also #TRICON
6:23pm March 8th 2016 via Hootsuite
Voelkerding: Current req's on the order of 20: primary/referring lab; general; wet bench; dry bench. #TRICON
6:21pm March 8th 2016 via Hootsuite
Voelkerding: Data management and reporting: how to assure data privacy. List of requirements, evolved every eyar #TRICON
6:20pm March 8th 2016 via Hootsuite
Voelkerding: Wet/Dry bench: analytical lab process; interpretation: medical practice. Added 18 accreditation req's, publ. July '12 #TRICON
Voelkerding: Recognized the profound impact, but did not want to stifle innovation. Wet bench / Dry bench / Data interpretation #TRICON
6:18pm March 8th 2016 via Hootsuite
Voelkerding: No NGS-spec accreditation. CAP charter est 2011: develop req's, proficiency. Find the right regulatory balance #TRICON
Voelkerding: History: by ~2010, early-adopters in US labs introduced clinical NGS (first on ABi's SOLiD), focused on inh disease #TRICON
6:17pm March 8th 2016 via Hootsuite
Karl Voelkerding (ARUP) Lab accreditation and proficiency testing for NGS diagnostics: an update from CAP Programs #TRICON
6:16pm March 8th 2016 via Hootsuite
Funke: 'The jury is still out whether we can do this' (i.e. repalce targeted panels with WES). May change in 2y - now ambiguous #TRICON
6:15pm March 8th 2016 via Hootsuite
Funke: Attempt: to use the best of both: 100% coverage, report pathogenic, likely pathogenic, VUS and likely benign #TRICON
6:08pm March 8th 2016 via Hootsuite
Funke: Validity (backed up by evidence) and actionability (therapeutic options) still left up to the lab #TRICON
6:06pm March 8th 2016 via Hootsuite
Funke: Where are the weak links? Exome assay/pipeline/result. Pt: hearing loss, WES + incidental findings. #TRICON
6:05pm March 8th 2016 via Hootsuite
Funke: 10 genes have homology issues - of the ACMG56, STRC, PMS2, CYP21A2, VWF. Showed PMS2 coverage map #TRICON
6:00pm March 8th 2016 via Hootsuite
Funke: They have catalogued disease-assoc'd homologous genes (Mandelker submitted) Mappability analysis #TRICON
5:58pm March 8th 2016 via Hootsuite
Funke: Example w/STRC (nonsyndromic hearing loss) - 99.6% identical across CDs. First 50% of gene 100% identical (incl introns) #TRICON
5:57pm March 8th 2016 via Hootsuite
Funke: NGS problems con't: CNVs, other SVs. 'Easy WES' but you don't know the genes. 'Sequencing <> understanding' #TRICON
5:56pm March 8th 2016 via Hootsuite
Funke: "Knowledge on NGS limitations does not scale". NGS problems with high/low GC, high homology, repeat expansions, large indels #TRICON
5:54pm March 8th 2016 via Hootsuite
Funke: Either make the WES better, or keep the same method. Cardio - how complete? 'all genes are not equal' #TRICON
Funke: Can the 'complete and confirm' model scale to WES? # of genes, # amplicons needed to complete WES. Their cap: 30 amplicons #TRICON
5:53pm March 8th 2016 via Hootsuite
Funke: But the reality: a 'complete and confirmed' assay - every clin sig assay is confirmed; fill-in missing data (w/Sanger) #TRICON
5:52pm March 8th 2016 via Hootsuite
Funke: Three example labs, all have 'no coverage guarantee', build you own 100 gene panel. ACMG56 optional, not offered, or unknown #TRICON
5:51pm March 8th 2016 via Hootsuite
Funke: A growing problem, panels becoming out of date. MolDx labs are experimenting #TRICON
5:50pm March 8th 2016 via Hootsuite
Funke: Drivers: panels are freq negative (often >50%); add'l testing ends up costing more than WES; WES 'always up to date' #TRICON
5:49pm March 8th 2016 via Hootsuite
Birgit Funke (Partners Healthcare) Diagnostic gene panels in the exome era: using exome seq as a universal assay #TRICON
5:48pm March 8th 2016 via Hootsuite
Gutierrez: Looked at the test results, risk scores, TP/TN/FP/FN rates measured. Look at benefit, consequence of FP #TRICON
5:43pm March 8th 2016 via Hootsuite
Gutierrez:A de-novo, Class III PMA approval 'Astute Medical NEPHROCHECK'. 'an aid in risk assessment of acute kidney injury' #TRICON
5:41pm March 8th 2016 via Hootsuite
Gutierrez: Intention: is it a screen? a diagnostic? Analytical perf: well-controlled conditions, accuracy, precision, spec, LoD #TRICON
5:39pm March 8th 2016 via Hootsuite
Gutierrez:Risk is tied to unrecognized erroneous results. Evaluate analytical validity, clinical validity, and intended use #TRICON
Gutierrez: Defines Valid Scientific Evidence - compared to opinion or case reports. For Dx: safety and effectiveness is inseparable #TRICON
5:38pm March 8th 2016 via Hootsuite
Gutierrez: The standard for Safety (benefits outweigh probable risks) and Effectiveness (sig portion of population, clin sig results)#TRICON
5:37pm March 8th 2016 via Hootsuite
Gutierrez: Emerging Dx doesn't fit into regulatory here. Definition listed, risk-based classification (I to III) #TRICON
5:36pm March 8th 2016 via Hootsuite
Gutierrez: Starts with 1976, Medical Device Amendments, provided a defninition, a standard to be used, provided regulatory paradigm #TRICON
5:35pm March 8th 2016 via Hootsuite
Gutierrez: Regulations quoted here are exact; acknowledges it may be dry. #TRICON
5:34pm March 8th 2016 via Hootsuite
Alberto Gutierrez (FDA) Evidence required by the FDA for establishing clinical validity #TRICON
5:33pm March 8th 2016 via Hootsuite
Lichtenfeld: Evidence-based medicine (and experts can disagree): we have a responsibility to make sure the value is based on data #TRICON
5:31pm March 8th 2016 via Hootsuite
Lichtenfeld: Many high-quality labs who are committed to quality. And there are others who aren't. "It does happen." #TRICON
5:27pm March 8th 2016 via Hootsuite
Lichtenfeld: Does the consumer understand what the science says? BRCA testing - experts now recommending wide screening: #TRICON
Lichtenfeld: Seeing an explosion of tests submitted for payment. Something like 70K tests, re-packaged. And DTC advertised. #TRICON
5:26pm March 8th 2016 via Hootsuite
Lichtenfeld: A new era of 'value based medicine' - does it really make a difference to our patients? #TRICON
5:25pm March 8th 2016 via Hootsuite
