Kingsmore: Expectation that children WGS will be done for a subset, and become eventually routine. Decreasing cost trend. #TCGC15
11:41am June 24th 2015 via Hootsuite
Stephen Kingsmore (Children's Mercy KS) "Case Studies and Case Series of Genomic/Precision Medicine in a Large Children’s Hospital" #TCGC15
11:39am June 24th 2015 via Hootsuite
Bennette:Q:Focus on QALY; what about budget impact? A:Unclear what pt populations would be screened #TCGC15
11:38am June 24th 2015 via Hootsuite
Bennette: >$1K not cost-effective in their model. But at <$500, ACMG list return of findings may well be cost-effective (w/caveats) #T
11:29am June 24th 2015 via Hootsuite
Bennette: Graphed probability of cost-effective vs cost of assay (to $1K); separate lines by age. #TCGC15
11:28am June 24th 2015 via Hootsuite
Bennette: Exploring the screening of healthy people: assumptions had to be made about penetrance, behavior, and outcomes of these #TCGC15
11:27am June 24th 2015 via Hootsuite
Bennette:for cardiomyopathy pts, $48K/QALY. CR cancer pts: $116K/QALY (these would have less gained for other conditions) #TCGC15
11:25am June 24th 2015 via Hootsuite
Bennette: In US: <$50K or <$100K/QALY is considered cost-effective. Prior example was among CR cancer pts. #TCGC15
11:23am June 24th 2015 via Hootsuite
Bennette: For generally healthy individuals: across 10K patients age 45y, $58K/QALY the pop-based cost #TCGC15
11:22am June 24th 2015 via Hootsuite
Bennette: Results published '14 ref http://t.co/ZestkzSIPh Wide range of health benefits - 0.1 to 2y QALY #TCGC15
11:21am June 24th 2015 via Hootsuite
Bennette: Even with 7, still economic QALY model would take too much time. 5/7 used existing published work. Used 3 populations #TCGC15
11:18am June 24th 2015 via Hootsuite
Bennette: Of 24 conditions, 7 comprised 95% of expected IF's. Top: familial hypercholderolemia, then hereditary br and ov cancer #TCGC15
11:16am June 24th 2015 via Hootsuite
Bennette: IF (incidental finding) found or not found, known effect or not; all based on the 56 genes. #TCGC15
11:15am June 24th 2015 via Hootsuite
Bennette: Quality Adjusted Life Year (QALY) - the life-years gained, adjusted for quality. Starting with WGS: evaluate return of VUS #TCGC15
11:14am June 24th 2015 via Hootsuite
Bennette: Goal to evaluate health outcomes and guide policy. Guidelines released in '13. Derive probabilities, expected benefits #TCGC15
11:13am June 24th 2015 via Hootsuite
Bennette: ACMG list of 56 genes, 24 inh conditions. Considerable uncertainty about returning 'secondary findings' #TCGC15
11:11am June 24th 2015 via Hootsuite
Caroline Bennette (Fred Hutchinson Cancer Ctr) " Estimating the Cost Effectiveness of Returning Incidental Findings from NGS" #TCGC15
11:10am June 24th 2015 via Hootsuite
Tynan: AMP has assumed a leadership role to describe the cost and value of GSP (Genomic Seq Procedure) here http://t.co/hdskjIGIiI #TCGC15
11:09am June 24th 2015 via Hootsuite
Katherine Tynan (Tynan Consulting) "Clinical genomics: a good investment?" #TCGC15
11:06am June 24th 2015 via Hootsuite
RT @westr: “@kirkwillmarth: Bianchi (tufts): 40% of women w t21 continue pregnancy #GenomicsFest” #Down's #NIPT #PM101
9:32am June 24th 2015 via Hootsuite
RT @Becky_Kusko: Rehm: just showed us this trailer made by 12 year old http://t.co/EIpVP71JK0 #GenomicsFest
9:31am June 24th 2015 via Hootsuite
RT @bioinfomagician: .@DianaBianchiMD: NIPT not designed for malignancy, but women leading the way as proof of concept for noninvasive canc…
9:15am June 24th 2015 via Twitter Web Client
RT @bioinfomagician: .@DianaBianchiMD: When you see the bizarre results of major aberrant CNVs, send the women to get full body MRI. #Geno…
RT @bioinfomagician: .@DianaBianchiMD is reviewing clinical impact of genomic tests and their affect on prenatal testing #GenomicsFest http…
9:13am June 24th 2015 via Twitter Web Client
RT @cshperspectives: Bianchi: future is in prenatal treatment of conditions uncovered in fetal genome/transcriptome screens #GenomicsFest
9:10am June 24th 2015 via Twitter Web Client
RT @cshperspectives: Bianchi: maternal copy number variants (CNVs) & cancer are sources of false positives for fetal trisomy in DNA test
9:09am June 24th 2015 via Twitter Web Client
RT @cshperspectives: Bianchi: 2M women had prenatal DNA sequencing since intro in 2011. Dramatic decrease in invasive screens #GenomicsFest…
RT @cshperspectives: Marchant reminds everyone long-term disability & life insurance are NOT covered by Genetic Info Non-Discrimination
RT @broadinstitute: Broad Institute, Google Genomics combine bioinformatics and computing expertise to expand access to research tools: ht…
8:50am June 24th 2015 via Twitter Web Client
"One of the earliest examples of precision medicine in the US" GERA Aging http://t.co/KpJjvwIlB9 PDF http://t.co/nNIfasI3Xu HT @divabiotech
8:01am June 24th 2015 via Hootsuite
MT @nxtstop1: The superb journal chat #nephjc on 'Social Media in Medicine' Storify http://t.co/OKF0Gm2uHy Thx 4 all you do! @kidney_boy
7:10am June 24th 2015 via Hootsuite
MT @TCGAupdates: Pan-cancer analysis suggests novel indications for existing cancer drugs #TCGA Biomarker Res (OA) http://t.co/Vt0cR7sgSk
6:10am June 24th 2015 via Hootsuite
Latest @mason_lab RT @kellyquek: The impact of read length on quantification of DEGs and splice junction detection http://t.co/UNMeDNGJkO
5:55am June 24th 2015 via Hootsuite
RT @vanessashen: I was asked to document my software development process http://t.co/9CSu3EdUvq
4:50am June 24th 2015 via Hootsuite
RT @JenniferRedig: Know PCR/next gen. sequencing? Want to become a part-time science writer w/Bitesizebio? email me jredig@gmail.com #altac
10:50pm June 23rd 2015 via Hootsuite
RT @BioMickWatson: From Benchtop to Desktop: Important Considerations when Designing Amplicon Sequencing Workflows http://t.co/6EE3NXPyuK
9:50pm June 23rd 2015 via Hootsuite
RT @TCGAupdates: Landscape of driver mutations in #melanoma in @CellCellPress http://t.co/SS9CgjmYDY http://t.co/8gvb3Yhibz
8:50pm June 23rd 2015 via Hootsuite
Brenner:Q:What's next? A:Gearing up for next challenge. Some enhancer mutations, some CRISPR muts, exome data, splicing #TCGC15
8:37pm June 23rd 2015 via Hootsuite
Brenner:A huge wall of acknowledgements. Board, Council, Data Providers, Assessors, Web Dev & Data Analysis #TCGC15
8:35pm June 23rd 2015 via Hootsuite
Brenner: False confidence - correlating noise rather than signal. #TCGC15
8:34pm June 23rd 2015 via Hootsuite
Brenner: Predictors 'are not ready for the clinic'. Using multiple methods don't get you better results. Use just one rather than 2 #TCGC15
Brenner: Need methods that work on an individual disease, on an individual gene. #TCGC15
8:33pm June 23rd 2015 via Hootsuite
Brenner: Caveat - CAGI is anecdotal. Predictions are highly significant - but 'predictive accuracy for any spec var is low' #TCGC15
8:32pm June 23rd 2015 via Hootsuite
Brenner: PGP with trait prediction: 239 total binary traits, 77 genomes. 1 group got 6 right, another 5. #TCGC15
8:29pm June 23rd 2015 via Hootsuite
Brenner: Chrohn's disease affected people had high levels of homozygosity; explaining why groups did well. German affected individ's #TCGC15
8:24pm June 23rd 2015 via Hootsuite
RT @GenomeNathan: @DaleYuzuki My (redacted) slides from that CAGI, on how we scored well (mainly luck!) in a kindred challenge. http://t.co…
8:22pm June 23rd 2015 via Twitter Web Client
Brenner:Another example: Hypoalphalipoproteinemia (HA). Predict most severe phenotype. @genomenathan did best #TCGC15
8:18pm June 23rd 2015 via Hootsuite
Brenner: Top methods had Spearman's correlation of 0.6. For that gene - advise against any prediction method. #TCGC15
8:17pm June 23rd 2015 via Hootsuite
Brenner: Cystathionine beta-synthase aa subst: which truly causative? Yeast had human enzyme put in, actual activity vs predicted #TCGC15
8:15pm June 23rd 2015 via Hootsuite
Brenner: 10 challenges CAGI website: http://t.co/LdulOarebz Discordant MZ twins: asthma prediction - no better than random #TCGC15
8:12pm June 23rd 2015 via Hootsuite
