Rittenhouse: Targeting EGFR in lung ca T790M point mutation; 3rd gen TKI (osimertinib) now req a re-biopsy. Plasma testing allowed. #PMWC17
2:09pm January 25th 2017 via Hootsuite
Lauren Rittenhouse (Brigham and Women's Hosp Harvard): Complementarity of dPCR and NGS #PMWC17
2:08pm January 25th 2017 via Hootsuite
.@helixcode Hi - in all the talks I attended, CNV from exomes not mentioned at all here at #PMWC17
2:08pm January 25th 2017 via Hootsuite in reply to helixcode
.@Genomes2People @RobertCGreen Thank you for the kind word! Always, always enjoy Dr. Green's presentations; IIRC only heard him once before.
2:06pm January 25th 2017 via Hootsuite in reply to Genomes2People
.@jgreid Alas I missed the BGI talk - due to travel delay. Would reach out to Rado, or BGI-Americas. On second Q not sure, sorry.
2:05pm January 25th 2017 via Hootsuite in reply to jgreid
Garcia-Murillas: Reviews mutation tracking for relapse. and DFS curves. Median lead time 7.9 mo over clinical relapse #PMWC17
2:03pm January 25th 2017 via Twitter Web Client
Garcia-Murillas: Stratify, detect heterogenity, look at resistance, predict relapse. ChemoNEAR study '15 STM https://t.co/oMSoUWXNjs #PMWC17
2:00pm January 25th 2017 via Twitter Web Client
Garcia-Murillas: Between higher complexity of NGS to increased sens for dPCR, fig from ref https://t.co/W7iQCv3qnu #PMWC17
1:57pm January 25th 2017 via Twitter Web Client
Garcia-Murillas: Lays out in introduction benefits of liquid biopsy; types include exosomes, CTCs, DNA, RNA, protein #PMWC17
1:56pm January 25th 2017 via Twitter Web Client
Isaac Garcia-Murillas (CRUK): Prediction of clinical outcomes in breast cancer with ctDNA #PMWC17
1:54pm January 25th 2017 via Twitter Web Client
Roever: No one worries about the cost of opening an Excel file; we're going to get to that level, almost zero costs. #PMWC17
1:47pm January 25th 2017 via Twitter Web Client
Roever: "We're still in the punch-card era of sequencing", shortcomings of short fragments and the complexities of workflow #PMWC17
Ballmer:BGI gets down to the $100's; ILMN being able to scale, only at the beginning but seems like it has been a long time #PMWC17
1:44pm January 25th 2017 via Twitter Web Client
Turner: Being able to use large datasets for training and applying machine learning Budel: Watson in 7d vs many years for P53 #PMWC17
1:42pm January 25th 2017 via Twitter Web Client
Advancing the clinic with emerging NGS technologies #PMWC17
1:41pm January 25th 2017 via Twitter Web Client
Panel: Allison Balmer Roche, Serge Saxonov 10X Genomics, Stefan Roever Genia, Stephen Turner PacBio, Stephane Budel DeciBio #PMWC17
Q:How to insure genetic info won't be misused? Green: Points out this '08 https://t.co/PONz11ALiC presidents and genetic privacy #PMWC17
1:01pm January 25th 2017 via Twitter Web Client
Kao: Helix: 'Empowering every person to improve their life through DNA' #PMWC17
12:59pm January 25th 2017 via Twitter Web Client
Kao: Can customize nutrition: compare by genotype, enc. specific behaviors; can be extended to fitness, health, carrier screening #PMWC17
12:58pm January 25th 2017 via Twitter Web Client
Kao: Other partners: invitae, Duke, Mayo, Mt Sinai, vinome, exploragen, Good Start genetics. $150 #PMWC17
12:57pm January 25th 2017 via Twitter Web Client
Kao: A consumer-friendly approach: partnered with Nat'l Geographic, two pruchase points, Helix and the app. Exome+ #PMWC17
12:55pm January 25th 2017 via Twitter Web Client
Kao: Thus there are few entrants in genomics, not consumer-friendly. #PMWC17
12:53pm January 25th 2017 via Twitter Web Client
Kao: Barriers to entry: chemistry, hardware is hard; costs of NGS and limitation of arrays; privacy, security; education #PMWC17
12:52pm January 25th 2017 via Twitter Web Client
Kao: Growing popular awareness; 35%-45% of consumers interested in a personal genetic test (UBS and other sources) #PMWC17
12:51pm January 25th 2017 via Twitter Web Client
Kao: Cost effectiveness: points to this NEJM '16 https://t.co/CnNLCILwcr $50K-$100K QALY for ACMG56 at $250 #PMWC17
12:50pm January 25th 2017 via Twitter Web Client
Kao: There is an intersection between a consumer and a patient. Illustrates location services (Uber), voice (Amazon Echo), wearables #PMWC17
12:47pm January 25th 2017 via Twitter Web Client
Justin Kao (Helix): The future of personal genomics for all #PMWC17
12:44pm January 25th 2017 via Twitter Web Client
Shlain: Many things go into trust: how is it going to help me? Listening? A relationship, knowing a plan exists to do something. #PMWC17
12:43pm January 25th 2017 via Twitter Web Client
Shlain: A patient just wants to get back to where they were, often saying 'no'. The 'trust-ome': you need to have trust. #PMWC17
12:40pm January 25th 2017 via Twitter Web Client
Shlain: Patients have tethered-will, limited options, anxiety orientation, return to baseline, save to invest #PMWC17
12:39pm January 25th 2017 via Twitter Web Client
Shlain: Consumers have free will, lots of choices, adding to baseline, excitement orientation, save to spend money #PMWC17
Shlain: What is a patient? a person receiving medical trtmt. What is a consumer? A person who purchases things for personal use. #PMWC17
12:38pm January 25th 2017 via Twitter Web Client
Shlain: In medicine, it is 'move slow and don't kill people'. #PMWC17
12:37pm January 25th 2017 via Twitter Web Client
Shlain: What it means to be a consumer, a doctor. In Silicon Valley, moving fast and breaking things. Works in tech, no in medicine. #PMWC17
12:36pm January 25th 2017 via Twitter Web Client
Jordan Shlain (Private Practice physician): Genetic testing in primary care #PMWC17 "It is a broken, fractured, non-system."
12:35pm January 25th 2017 via Twitter Web Client
Green: Framingham penetrance paper '16 STM https://t.co/xtI9JVpwY9 Measuring cardiovascular disease over 20y #PMWC17
12:34pm January 25th 2017 via Twitter Web Client
Green: The heart of clin util/cost benefit vs reimb and recommendations: the Q of penetrance #PMWC17
12:31pm January 25th 2017 via Twitter Web Client
Green: Upon being informed, mother said 'oh that explains it', uncovered previous family history previously hidden #PMWC17
12:30pm January 25th 2017 via Twitter Web Client
Green: Unanticipated monogenic vars - one where screening missed biotinidase def, another BRCA2 in a baby, exception made via IRB #PMWC17
Green: How to recruit? Of 2190 healthy baby families, consented 8%. Usual issues - confidentiality and insurance key concerns #PMWC17
12:28pm January 25th 2017 via Twitter Web Client
Green: 6-mo utilization and costs: $350 add'l consultation, tests. #PMWC17
12:27pm January 25th 2017 via Twitter Web Client
Green: PCP management: if you give background, support, even primary care can give needed care. #PMWC17
12:26pm January 25th 2017 via Twitter Web Client
Green: Showed data of unanticipated monogenic disease risk variants. Ex: RDH5 - white spots in eye, poor night vision #PMWC17
Green: MedSeq: 4600 genes and 100 pts, 92 had carrier traits. Mendelian dis risk: 21% #PMWC17
12:24pm January 25th 2017 via Twitter Web Client
Green: There is no infrastructure for 200M people. 'It doesn't wash with the public health model (newborn screening)' #PMWC17
12:23pm January 25th 2017 via Twitter Web Client
Green: The problem of low prior probability - downstream implication? FP's from seq or interpretation. The 'incidentalome' #PMWC17
12:22pm January 25th 2017 via Twitter Web Client
Green: The problem - and opportunity - for incidental findings. Conflicting - ACMG had 56 genes. Incidental findings is screening. #PMWC17
12:21pm January 25th 2017 via Twitter Web Client
Green: Is genomic info harmful? After 15y, people who select themselves are well-suited to handle this info https://t.co/y0REuUvXbz #PMWC17
12:18pm January 25th 2017 via Twitter Web Client
Green: Also following other individuals via PeopleSeq project, and military (Air Force) with MilSeq #PMWC17
12:16pm January 25th 2017 via Twitter Web Client
Green: Reveal study at genomes2people running for 15y (ApoE status). Will talk about MedSeq and BabySeq, both randomized trials #PMWC17
12:15pm January 25th 2017 via Twitter Web Client
