A. Middleton: IF be made available: Majority 'yes' from all groups. #ASHG2013
3:09pm October 25th 2013 via TweetDeck
A. Middleton: Americans / Canadians 'most liberal'; British / Irish most conservative about sharing genetic info #ASHG2013
3:08pm October 25th 2013 via TweetDeck
A. Middleton: Attitudes most influenced by professional background. More than country of origin. #ASHG2013
A. Middleton: Not limited by geography, although 79% from EU, 15% from N. Am. #ASHG2013
3:07pm October 25th 2013 via TweetDeck
A. Middleton: Other health pro's: 843. #ASHG2013
A. Middleton: Quality of data 'exceptional' - 72% answered every Q; 6944: 607 genomic researchers, 4961 public, genetic pro's 533 #ASHG2013
3:06pm October 25th 2013 via TweetDeck
A. Middleton: Recruited 455 via trad media. Social media: 4048! I realize social media is 'incredible for recruitment' #ASHG2013
3:05pm October 25th 2013 via TweetDeck
A. Middleton: Objectives: attitudes toward sharing IF. 10 short films made, neutral and unbiased presentation of the issues #ASHG2013
3:04pm October 25th 2013 via TweetDeck
A. Middleton: DDD team exploring the reporting of IF, an 'opportunistic screen' #ASHG2013
3:03pm October 25th 2013 via TweetDeck
A. Middleton: Undiagnosed dev. disorder, 'Sarah' enrolled 'Deciphering Developmental Disorders' project. #ASHG2013
3:02pm October 25th 2013 via TweetDeck
Middleton: No relation to Kate. :o) #ASHG2013
3:01pm October 25th 2013 via TweetDeck
A. Middleton (Cambridge UK): International views on sharing incidental findings from whole genome research #ASHG2013
J. Taylor: Future plans - 100K genomes in NHS, pilot studies are underway. #ASHG2013
3:00pm October 25th 2013 via TweetDeck
J. Taylor: 40 IF variants from ACMG 57 gene list, 12 reviewed in detail, 2 remain candidates. 0.02% of families #ASHG2013
2:57pm October 25th 2013 via TweetDeck
J. Taylor: Summary chars of publications that came out from this work. HUWE1, ALG2, SPTBN1, TTN, KCNQ2, SCN5A #ASHG2013
2:51pm October 25th 2013 via TweetDeck
J. Taylor: Of novel Mendelian genes: 6 genes discovered that were missed by Sanger #ASHG2013
2:50pm October 25th 2013 via TweetDeck
J. Taylor: 2 pathogenic regulatory var's in or downstream of known candidate genes (could not find by WES, only WGS) #ASHG2013
J. Taylor: 150 Mendelian, also CV, metabolic, 68 autoimmune, cancer etc. #ASHG2013
2:49pm October 25th 2013 via TweetDeck
J. Taylor: WGS500 at 30x, tumors at 60x, >40 phenotypes, 35 PI's with expertise for followup study #ASHG2013
2:47pm October 25th 2013 via TweetDeck
J. Taylor: Challenges to address for WES: cost, speed, informatics, genetic/functional validation; incidental findings. #ASHG2013
2:46pm October 25th 2013 via TweetDeck
J. Taylor (Oxford): "Evaluation of Clinical Utility of Whole Genome Sequencing: the WGS500 Programme" #ASHG2013
2:45pm October 25th 2013 via TweetDeck
Yu: Q&A: If no IF are found, a concern that expectations are too high from WES #ASHG2013
Yu: Parents expect to manage flow of information to family members. Help children mature, take resp., allowing parents to choose #ASHG2013
2:42pm October 25th 2013 via TweetDeck
Yu: 92% of parents wanted all available secondary results #ASHG2013
2:41pm October 25th 2013 via TweetDeck
Yu: Most parents indicated 'we can handle bad news' due to their prior experience. #ASHG2013
2:38pm October 25th 2013 via TweetDeck
Yu: Benefit to other family members Pt "I have 19 nieces and nephews and want them to know" #ASHG2013
2:36pm October 25th 2013 via TweetDeck
Yu: Add'l motives - info a 'heads-up' for unaffected child. And inform sib's reproductive choices. Pt "If she can pass it on" #ASHG2013
Yu: Motivation of parents - prevent future conditions, guide / ease mgmt, also impt. when parents are gone. #ASHG2013
2:35pm October 25th 2013 via TweetDeck
Yu: 1/2 college degreed; same spectrum of autism, brain malformation, CF, limb malformation. #ASHG2013
2:34pm October 25th 2013 via TweetDeck
Yu: 150 participants; My46 is a web-based tool for self-reported measurement. (Tabor prior talk) #ASHG2013
2:33pm October 25th 2013 via TweetDeck
Yu: Also - What WES do parents want to know? How do they think about it, how will they use the info? #ASHG2013
Yu: Kids and exomes: potentially actionable results. What choice do parents have? Future autonomy for adult onset? #ASHG2013
2:32pm October 25th 2013 via TweetDeck
J. Yu (U Wash): Benefits and risks of wanting it all: how parents plan to manage their children’s exome sequencing results #ASHG2013
2:30pm October 25th 2013 via TweetDeck
Tabor: Implications: a need for more broad framing, broader timespan; more data needed for offering choice / self mgmt #ASHG2013
2:27pm October 25th 2013 via TweetDeck
Tabor: Summary: "Even bad news is good news"; future orientation; belief that knowledge is good; #ASHG2013
2:26pm October 25th 2013 via TweetDeck
Tabor: Pt: "My response to information is to go find more information." "I get data, assimilate it, and move on" #ASHG2013
2:25pm October 25th 2013 via TweetDeck
Tabor: Pt: "The tradeoff is worth it". They articulate coping strategies, including bad news and unexpected info. #ASHG2013
Tabor: Concerns about content, a small number concerned about misuse of info (but not stopping them from participating) #ASHG2013
2:24pm October 25th 2013 via TweetDeck
Tabor: Results not wanted: "Can't think of anything". Pt: "I don't know what the menu is" #ASHG2013
2:23pm October 25th 2013 via TweetDeck
Tabor: Wanted results: "Long term planning for children". Pt "We could use the help of a crystal ball I guess" #ASHG2013
2:22pm October 25th 2013 via TweetDeck
Tabor: Desire for awareness / preparation. Pt "better than being blindsided by it" #ASHG2013
2:21pm October 25th 2013 via TweetDeck
Tabor: A prevention example, BRCA and prophylactic mastectomy. Pt "She was able to make an informed decision (regarding A Jolie)" #ASHG2013
2:20pm October 25th 2013 via TweetDeck
Tabor: Results wanted are also for prevention: "there is always something you can do" #ASHG2013
2:19pm October 25th 2013 via TweetDeck
Tabor: Another: "Even if there's something that seems scary, I think it is valuable to know" #ASHG2013
2:18pm October 25th 2013 via TweetDeck
Tabor: Participant quote: "I can't necessarily tell that something not valuable today might be valuable later on" #ASHG2013
Tabor: Phone interview coded; five conditions. >85% 'wanted all' 'anything and everything that comes out of this study' #ASHG2013
2:17pm October 25th 2013 via TweetDeck
Tabor: Recruiting and reconsent 150 from indivs whose exomes already sequenced. Use of My46 for self-guided web-based tool. #ASHG2013
2:16pm October 25th 2013 via TweetDeck
H. Tabor (Seattle Children's): Individual expectations for return of secondary results from exome sequencing #ASHG2013
2:15pm October 25th 2013 via TweetDeck
Dulik: Conclude: ACMG IF list leads to efficient analysis. #ASHG2013
2:14pm October 25th 2013 via TweetDeck
Dulik: Comparing IF frameworks, ACMG has 56 genes, while PediSeq 2074. Unique vars/exome ave 1.6 / 13.8 respectively #ASHG2013
2:11pm October 25th 2013 via TweetDeck
