Barton: Similar debates in EU as in US; AMP committee has counter-proposal PDF of AMP letter to FDA: http://t.co/AqoPtpWGWL #ASHG15
9:11am October 7th 2015 via Hootsuite
Barton: What started as IVD regulation turned into clinical lab / patient / Dr. interaction, 'hijacked'. Now negotiating #ASHG15
9:08am October 7th 2015 via Hootsuite
Barton: It was in place in EU for veterinary and other laboratories, just not for human genetics. Regs introduced for clin genetics #ASHG15
9:07am October 7th 2015 via Hootsuite
Barton: Regulations at that time, EU working on revisions. Major oppy to influence; mandatory accreditation for genetic testing #ASHG15
9:06am October 7th 2015 via Hootsuite
David Barton (Our Lady’s Children’s Hosp, Ireland): Started via work with reference materials and Lisa Kalman (CDC) #ASHG15
9:04am October 7th 2015 via Hootsuite
Patsalis: DTC: Rising need for counseling, anonymity, use for other research purposes #ASHG15
Patsalis: Also sex-selection using NIPT, DTC genetic testing "turning into a consumer commodity" #ASHG15
9:03am October 7th 2015 via Hootsuite
Patsalis: Laundry-list of previously covered ground; incidental results, clinical benefit data, ELSI issues http://t.co/qvoVFE3B6Z #ASHG15
9:02am October 7th 2015 via Hootsuite
Philippos Patsalis (Cyprus Inst.): Quality and safety is a concern in Europe. Production, labelling, Post-market. ASHG15
8:58am October 7th 2015 via Hootsuite
Mansfield: Sees rapid knowledge expansion and tech development; 'everyone who can use this (NGS) is jumping in' #ASHG15
8:57am October 7th 2015 via Hootsuite
Mansfield: How to best regulate and not stifle innovation and transfer of knowledge.FDA PDF of white paper http://t.co/PHWZWdKQp1 #ASHG15
8:56am October 7th 2015 via Hootsuite
Mansfield: How regulation would be made more efficient for NGS; still evolving tech and knowledge #ASHG15
8:54am October 7th 2015 via Hootsuite
Mansfield: Regulating invitro-diagnostic products; group founded in 2009 expecting NGS's progress. Targeted for CDx, WGS, WES #ASHG15
8:53am October 7th 2015 via Hootsuite
Chung: Acknowledges the #PMINetwork won't be 'able to do everything'. I.e. Autism w/50K family members #ASHG15
8:52am October 7th 2015 via Hootsuite
Chung: Have to think about making this scalable; dissemination to the broader community. Education / awareness to medical providers #ASHG15
8:51am October 7th 2015 via Hootsuite
Chung: "You get the feeling that we are building the plane as we are flying it" #ASHG15
Wendy Chung (Columbia) next to Liz Mansfield (FDA) at plenary opening #ASHG15 http://t.co/N62UEl5rHS
8:50am October 7th 2015 via Hootsuite
Good morning #ASHG15 - the exhibits aren't open yet but it looks like @AppliedBio already has a nice crowd! http://t.co/4r7Pu8uajL
8:45am October 7th 2015 via Hootsuite
Friends at @agilentgenomics here at #ASHG15 talking about Cartagenia for genetic Dx. http://t.co/6PqCxRI7G4
8:14pm October 6th 2015 via Hootsuite
A2: Collins- followup may be varied. Compl. effort called Echo - Environmental Children's Health Outcomes http://t.co/mJNgoUU42b #ASHG15
7:03pm October 6th 2015 via Hootsuite
Q: (Dave Valle) Disease in pediatric ages - risk for adult disease? A:Collins - intended to cross age ranges, including preg women #ASHG15
7:01pm October 6th 2015 via Hootsuite
Q(Kaiser):Can family history be the first 'ome? A:(Risch) High risk individuals may not have a family history... #ASHG15
7:00pm October 6th 2015 via Hootsuite
Risch: Perhaps an 'ome could be imputed? Wray: We need more data on this. (My mind is blown.) #ASHG15
6:58pm October 6th 2015 via Hootsuite
Re Food-ome: "We need phone apps, to take a picture of the food and calculate calories, b/c people lie" Ritchie #ASHG15
6:57pm October 6th 2015 via Hootsuite
A2 (Collins) The metabolome should be paid 'closer attention to' in the hundreds of $. A struggle to balance priorities #ASHG15
6:56pm October 6th 2015 via Hootsuite
Q (Mike Snyder):Food-ome? A:Ritchie: Other 'omics limited by cost. Tissue-specificity (GTEx project), sample avail. issue too #ASHG15
6:55pm October 6th 2015 via Hootsuite
Q: (Kaiser) What about cost? A: Ritchie: Treatment and prevention 2 sides. Hard to cut trtmt costs. Costs are cut w/prevention #ASHG15
6:51pm October 6th 2015 via Hootsuite
A2: (Collins) Getting an even a larger study 'is very appealing' but need to get started first #ASHG15
6:48pm October 6th 2015 via Hootsuite
Q (Manolis Kellis): 1M is a small subset of US, could you try for extreme phenotypes? A: (Hunter): Need is for environment impact #ASHG15
Q: Is PMI for only the US? Collins: At the moment, yes for the US. Other collaborations in the future #ASHG15
6:45pm October 6th 2015 via Hootsuite
Ritchie: Longitudinal, multi-omics with meta-dimensional models - 'due to the complexity we're facing' #ASHG15
6:43pm October 6th 2015 via Hootsuite
Ritchie: Illustrates with children at very low-resolution (and a portion at that) to indicate how rich the data can be ASHG15
6:42pm October 6th 2015 via Hootsuite
Ritchie: Tested this in recent paper: http://t.co/978o4teIqI on breast cancer survivability #ASHG15
6:40pm October 6th 2015 via Hootsuite
Ritchie:Illus. with 17beta estradiol, and differential variation in CYP1A1 and CYP1B1; SNPs, rare variation, CNVs. #ASHG15
6:39pm October 6th 2015 via Hootsuite
Ritchie: Also across 3 matrices: SNP Matrix, another for Gene expression, a third for miRNA #ASHG15
6:38pm October 6th 2015 via Hootsuite
Ritchie: Points to this early 2015 review: http://t.co/DgwuhXZtTx Models - concatenation; transformation; may use other fields #ASHG15
6:37pm October 6th 2015 via Hootsuite
Ritchie: Additional 'omics data: more than DNA. The complexity of biology - whether methylome, transcriptome, microbiome... #ASHG15
6:34pm October 6th 2015 via Hootsuite
Ritchie: MCode - fully consented, return of results, re-contact, mHealth apps. 90K enrolled now. 50K WES, 30K WGGT (SNP chips) #ASHG15
6:31pm October 6th 2015 via Hootsuite
Ritchie: Geisinger: Pittsburgh, Phily, Danville in the middle. 1.2M active patients. MyCode comm. health http://t.co/sIviWjgUge #ASHG15
6:30pm October 6th 2015 via Hootsuite
Ritchie: One limitation - little env. exposure data (need survey tools, geocoding); little behavioral data (also need survey tools) #ASHG15
6:29pm October 6th 2015 via Hootsuite
RT @splon: Naomi Wray - a bold woman for saying that the PMI should do cheaper SNPchips not WGS and spend money on phenotyping!
6:27pm October 6th 2015 via Hootsuite
Ritchie: Cost is lower - add-on to routine clinical care; all visit data available; longitudinal 'which we haven't capitalized on' #ASHG15
6:26pm October 6th 2015 via Hootsuite
Ritchie: Cites the eMERGE network website: http://t.co/Z7Fbj8F3Au Lists many advantages of EHR biobank for genomics #ASHG15
6:25pm October 6th 2015 via Hootsuite
Ritchie: Dynamic duo - more than component parts. Her 2010 AJHG http://t.co/EYFdPnFKy6 pulling phenotypes from EHRs #ASHG15
6:24pm October 6th 2015 via Hootsuite
Marylyn Ritchie (Geisinger Hlth System, Penn State Univ) "‘Omics and electronic health records - a dynamic duo" #ASHG15
6:22pm October 6th 2015 via Hootsuite
Wray: 'Spend the money on better phenotypes, multiomics' #ASHG15
6:21pm October 6th 2015 via Hootsuite
Wray: Is the elephant in the room the volume of data? Knows that the analysis of Linear Mixed Model - 7TB storage for 1, can be 20 #ASHG15
Wray: Via imputation - >95% of common variation, >70% of rare variants. For 1M individuals, SNPs are inexpensive, stable. #ASHG15
6:20pm October 6th 2015 via Hootsuite
Wray: What technology to use - SNP chips or WGS? Price is a limiting factor. 2015 Nature Gen Yang http://t.co/bNAeoFuwwz #ASHG15
6:19pm October 6th 2015 via Hootsuite
RT @claritas4kids: #ASHG15 NW: if low lifetime risk of disease, most will present with no family history even if really there
6:16pm October 6th 2015 via Hootsuite
