September 2018

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 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 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 '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 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 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 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

12:06pm September 7th 2018 via Twitter Web Client

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

Puck: #AGBTph18 Shows figure from '14 NEJM https://t.co/CQKDicQYJA Surv rate was good <3.5mo of age; also avoiding infection

9:44pm September 6th 2018 via Twitter Web Client

Jennifer Puck (UCSF): #AGBTph18 Newborn screening for severe combined immunodeficiency and disorders with insufficient T cells

9:34pm September 6th 2018 via Twitter Web Client

@SharonPlon comments 'we've forgotten the public health approaches'. And: HepC Rx is all about the $$$, not the amazing work done. #AGBTph18

9:29pm September 6th 2018 via Twitter Web Client

Bustamante: #AGBTph18 by 2025, 50-60M Americans 'will be genotyped'. Working with ClinGen, https://t.co/jLbK9weOpK

9:26pm September 6th 2018 via Twitter Web Client

Bustamante: #AGBTph18 Then health coins change value, as pt performs agreed-on actions...

9:17pm September 6th 2018 via Twitter Web Client

Bustamante: #AGBTph18 Apple is there today; ResearchKit w/postpartum depression. EHR on their phones w/CareKit.

9:14pm September 6th 2018 via Twitter Web Client

Bustamante: #AGBTph18 Today we are focused on EHR, 'Omics, imaging, outcomes, pathology, Rx. The new world - pts bringing their data w/them

9:11pm September 6th 2018 via Twitter Web Client

Bustamante: #AGBTph18 20% of GDP is devoted to 'sick care'; so tech co's will go after healthcare. 'They are here.'

9:10pm September 6th 2018 via Twitter Web Client

Bustamante: #AGBTph18 The innovator's dilemma, disruptive technologies. 'Data is the most valuable resource' https://t.co/s9ClgCrYKh

9:09pm September 6th 2018 via Twitter Web Client