Green #AGBTph18 Looking deeply into disease; uses the term 'Umwelt' (wikipedia https://t.co/2ywH83nwmb) ("I wanted… https://t.co/S4HNMclWD7
1:29pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 More phenotypes manifesting (ACMG genes, cancer, CV): Much higher observed vs expected %'s. Do you… https://t.co/LBJX1L8MTm
1:26pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 Onto heart studies (Framingham n=462, Jackson n=3218), and aggregated data w/phenotype '16 STM https://t.co/xtI9JVpwY9
1:25pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 8/18: consistent with family history; 6/18: no clinical or family history for disease, some workups pending.
1:22pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 Of 18: 4 w/diagnostic findings. 1 explained phenotype (ANKRD11); 3 prompted 'disocvery of unrecognized clin phenotype'
1:21pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 Self-selected group, and randomly assign. 163 newborns: 11% w/findings predictive of monogenic disease (18/163)
1:20pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 @Genomes2People website: https://t.co/XbHdWD7fgS BabySeq: "whether you like it or not, a complete s… https://t.co/lL1YlxGLl0
1:19pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 No anxiety and depression risk for WGS (baseline, disclosure, followup). Economic outcomes: angst p… https://t.co/oD6WjFzn84
1:18pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 21% have Mendelian disease risk; digging down into family hist, deep phenotyping. 'Fragments of disease': spots, rashes...
1:17pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 Monogenic results, carrier vars, PGx. MedSeq outcomes: 'more there than we expected'. 4600 genes; '… https://t.co/tY9UubpdjC
1:16pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 MedSeq '14 ref https://t.co/tqczQRo6bZ '14 ref on reports https://t.co/pdkImgIy2d PCP's became more… https://t.co/SrblyZeZtM
1:15pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 Unanticipated findings: what are medical, behavioral implications? MedSeq: WGS communication, follow-up, randomized
1:13pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 PGen study, looked at ethnicity, behaviors. One of many ref's given '17 https://t.co/KMtL1moT9d
1:12pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 Genomes to People Research program: many projects, looking at results. Q: is genomic info toxic? No, even when it's bad news
1:10pm September 7th 2018 via Twitter Web Client
Green #AGBTph18 Why is sequencing of healthy individuals even controversial? The public health notion: low-prob events get FPs over TPs
1:09pm September 7th 2018 via Twitter Web Client
Robert Green (Broad and MGH) #AGBTph18 Addressing the controversy of sequencing healthy individuals with empirical data
1:08pm September 7th 2018 via Twitter Web Client
Q:Overreacting physicians in response to EHR info? Relling #AGBTph18 There have been, but nothing specific share
1:05pm September 7th 2018 via Twitter Web Client
Mardis: PGx and ImmunoRx? Relling #AGBTph18 Will be complicated, working on it 'and others too'.
1:03pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Mayo: 5% of their tests were 'accidental duplicates' as test names were not standardized. Shows g… https://t.co/fwI7QpGJ2O
12:55pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Some have two genes involved; phenotype standardization. '18 ref https://t.co/LmvmKmF6kc TPMT for % metabolizer
12:54pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Implemented a PGx tab in their EHR; not EHR-spec. HUGO gene name, and linked to consult. Pre-test… https://t.co/p1cn5rfuW1
12:52pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Since 2011; 9 genes and 25 drugs. https://t.co/ePIwub69Mi
12:50pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Lays out St Jude's PG4KDS process '14 ref https://t.co/2qGDhN9eOd Down to EHR, clin decision support, pt education
12:47pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Cost of gt for most actionable loci 'is low, about the test for one gene'. Showed busy slide of genes tested for.
12:46pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Shows data from this '17 https://t.co/LdvMciXXB3 Pre-emptive genotyping at St Jude; as TAT is too… https://t.co/o84pGnobqB
12:45pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 '17 updated '11 ref https://t.co/sl2U5Ln6gp CPIC info is constantly updating.
12:43pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 50% of pts received at least one Rx for 11 CPIC genes. 1.5% of 95 drugs is tested for PGx
12:41pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Not all drugs have narrow Rx range (i.e. can give high-dose penicillin). CPIC https://t.co/NCg4rgwUGB clinical consortium
12:39pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 Inter-indiv variability in '~ all' drug-induced phenotypes is affected to some extent by inh genomic var
12:37pm September 7th 2018 via Twitter Web Client
Relling #AGBTph18 TPMT genotype - thiopurine S-methyltansferase '99 fig https://t.co/imzuxyw7yi Thus led to PGx (pharmacogenetics)
12:36pm September 7th 2018 via Twitter Web Client
Mary Relling (St Jude TN) #AGBTph18 Precision health and the learning healthcare system. 99% of pop'ln has high-risk diplotype
12:35pm September 7th 2018 via Twitter Web Client
Q: Rate of FNs? Williams #AGBTph18 No way to measure the denominator. Have looked at Regeneron's concordance.
12:34pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Some genes not causative (originally thought to be).
12:30pm September 7th 2018 via Twitter Web Client
Q: Exomes vs WGS? Williams #AGBTph18 Long-term, where they will be (WGS), question remains on time-frame.
12:29pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Refers to this May 2018 issue of Health Affairs - edition devoted to Prec Med https://t.co/NqzSgonV1A
12:28pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Implementation complex ('who knew?') and req. systematic approach
12:27pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 What costs incurred/reported. 'We have to demonstrate improve value'. Outcomes 'must be defined… https://t.co/xcleC4nrdg
12:26pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Have capability to have a system where outcomes can be tracked for many decades. Outcomes chart:… https://t.co/iSIvjE7kJn
12:23pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Shows flowchart on what happens when pt doesn't respond, letters, support materials, family history info etc.
12:19pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Confirmation via CAP/CLIA lab for confirming, and report issued back. 5-day delay, give time for follow-up
12:18pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Consent and samples: consent in-person, online or smart device; 800-1200/week; heavily in-person… https://t.co/5mBleOmlmD
12:13pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Geisinger 80: 30 conditions, 80 genes, builds from ACMG 2013 list. CDC list: Hered br, ov cancer… https://t.co/KeGEsvfDv0
12:11pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Started as biorepository in '07; to date, 93K WES, 881 results to 877 participants. Est 3.5%, now 2-3% est
12:10pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 MyCode Health: 250K+ Geisinger pts will have WES; look for actionable results, return results to pts
12:09pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 From Christensen's 'Innovators Prescription'. Precision Health - emphasizes prevention; called M… https://t.co/oMpEQNJhFC
12:08pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Clinicians practice pers. medicine (and always have); currently it is intuitive. Empiric 'trial and error'
12:07pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 'as much knowledge about the individual's state as available', 'minimizing the things the pt. fears the most'
12:06pm September 7th 2018 via Twitter Web Client
Williams #AGBTph18 Pers med def'n: "maximize the outcomes that the pt most cares about" '87 NEJM https://t.co/s2ClY7fDRJ
Marc Williams (Geisinger) #AGBTph18 Precision health and the learning healthcare system
12:04pm September 7th 2018 via Twitter Web Client
Puck: #AGBTph18 More detail on RAG1 'leaky' mutations '13 ref https://t.co/ulxaVDPSk2
9:55pm September 6th 2018 via Twitter Web Client
