Mandel: 500 implicated genes for intellectual disability (+/- autism); but these are not followed-up after Dx. Participative med #ESHG2016
3:49am May 24th 2016 via Hootsuite
Mandel: And tie the reporting by the clinical lab to accreditation (Joris and M-C King both nod in agreement) #ESHG2016
3:48am May 24th 2016 via Hootsuite
Mandel: PKSC9 hypercholesteremia GoF, only seen when LoF decreased cholesterol. Proposes all clin lab Dx results reported to db's #ESHG2016
3:45am May 24th 2016 via Hootsuite
Mandel: Also more structural / cell biology on target proteins; validation of candidate genes; interpret of non-coding var's #ESHG2016
3:44am May 24th 2016 via Hootsuite
Mandel: Rare disease w/monogenic, pathogenic mut's: availability to every pt, family; interpretation dep on databases, clin data #ESHG2016
3:43am May 24th 2016 via Hootsuite
Q: Myriad's data is private - any way to get it? King: Of course it should, also Myriad doesn't know what happened - no followup. #ESHG2016
3:40am May 24th 2016 via Hootsuite
Q: Dev of complete db's? King: So important; one physician use ('unquestionably pathogenic'), and research use #ESHG2016
3:37am May 24th 2016 via Hootsuite
Q: Will this replace other expensive screening? King: Will allow stratification of freq of mammography based upon genotype #ESHG2016
3:35am May 24th 2016 via Hootsuite
King: Concludes: 'No woman should die of cancer with a BRCA1/2 mutation' #ESHG2016
3:34am May 24th 2016 via Hootsuite
King: And for individs w/severe family history, sequencing of all ov and br cancer genes. #ESHG2016
3:33am May 24th 2016 via Hootsuite
King: Proposes: every woman offered complete BRCA1/2 at about age 30 as part of routine medical care. #ESHG2016
3:32am May 24th 2016 via Hootsuite
King: Odds Ratios can be reported; separate sequencing and bioinformatics '14 JAMA https://t.co/4SbUfLmvAg #ESHG2016
King: 'I think this is nonsense' - shd only report what is known. 'First do no harm' - tell what is known, do not increase anxiety #ESHG2016
3:31am May 24th 2016 via Hootsuite
King: 1% of women (in general) will be carrier in one allele. VUS is a recent term; dev by Myriad useful in a legal sense #ESHG2016
3:29am May 24th 2016 via Hootsuite
King: PARP the critical component, shown to be very effective, added years of life. The yield will differ by population. #ESHG2016
3:28am May 24th 2016 via Hootsuite
King: Non-homol repair, and non-homol end-joining repair. NHEJ is the backup; 2 groups block NHEJ, cancer cells can't repair #ESHG2016
3:26am May 24th 2016 via Hootsuite
King: PARPi have been based on the biology, shown directly useful due to inh and somatic mutataions. #ESHG2016
3:25am May 24th 2016 via Hootsuite
King: 18% of ov ca pts carry pathogenic germline mut in DNA repair gene '16 JAMA Onc https://t.co/Jn2do7whFr BRCA1/2 >40% #ESHG2016
3:24am May 24th 2016 via Hootsuite
King: Dev an assay called BROCA, targeting all br and ov cancer genes; can detect all classes - frameshift, nonsense, dels/dups #ESHG2016
3:22am May 24th 2016 via Hootsuite
King: Messy genetic model due to autosomal inh. 2 ex.: females w/br ca at a young age; paternally inh.; sisters didn't have mut #ESHG2016
3:21am May 24th 2016 via Hootsuite
King: In many populations - many recent rare mutations. Not until NGS panels was this examination possible. #ESHG2016
3:20am May 24th 2016 via Hootsuite
King: Very good evidence - surgery 'dramatically reduces risk of death' due to the mutation in BRCA1/2. 1000's of mutations poss #ESHG2016
3:19am May 24th 2016 via Hootsuite
King: '02 NEJM https://t.co/4nYZmuJekE Each w/BRCA1/2, w/ vs w/o, risk of breast cancer reduced by not eliminated w/surgery #ESHG2016
3:18am May 24th 2016 via Hootsuite
King: Risk is high - even if there was an affected relative or not. Salpingo-oophorectomy risk chart shown from NEJM 346:1609 '02 #ESHG2016
3:16am May 24th 2016 via Hootsuite
King: Cancer risk - >80% by age of 70 for BRCA1; 40% for BRCA2. Also increase w/time with non-genetic risk factors #ESHG2016
3:15am May 24th 2016 via Hootsuite
King: On risk of disease due to mut is high: not clear until PNAS '14 https://t.co/fzIZ3PaBzv Look at founder Ashkenazim BRCA #ESHG2016
3:14am May 24th 2016 via Hootsuite
King: Four cirteria - impt health problem, risk of disease high; mutations can be accurately ID'd, effective interventions #ESHG2016
3:12am May 24th 2016 via Hootsuite
Mary Claire King (Univ Washington WA) WHO criteria '68 updated by Khoury in NEJM '03 https://t.co/50JecX6Te1 #ESHG2016
3:11am May 24th 2016 via Hootsuite
Mandel: WGS for everone? Why - curiousity, adv research, altruism; when, how, what to report? #ESHG2016
3:08am May 24th 2016 via Hootsuite
Jean Louis Mandel (Univ Strasbourg France) "Our visions of genomic medicine" comments before discussion #ESHG2016
3:07am May 24th 2016 via Hootsuite
Plenary #eshg2016 is ‘My vision for Grnomic medicine’ https://t.co/lqP29a241W
3:03am May 24th 2016 via Hootsuite
.@labmonkey_in_KL Great to meet you yesterday, Jo!
2:26am May 24th 2016 via Hootsuite in reply to labmonkey_in_KL
.@mfmcmanus Thank you for the kind word Matt - credit @SeraCare to send me to #ESHG2016
2:24am May 24th 2016 via Hootsuite in reply to mfmcmanus
The Sorry Legacy of the For-Profit College Boom - The New Yorker https://t.co/8Yl4q7u9pZ
10:45pm May 23rd 2016 via Hootsuite
Donated organs kept ‘alive’ may ease the transplant shortage - The Washington Post https://t.co/gaRBKF6q2U
9:40pm May 23rd 2016 via Hootsuite
RT @NatureNews: Genetics firm faces legal fight from patients who say it refused to give them genomic data https://t.co/0CQTnWnoO0
8:50pm May 23rd 2016 via Hootsuite
RT @DrKhouryCDC: Sickle cell disease pain: 40-year journey toward precision medicine. https://t.co/iKIH79B6iu https://t.co/7uCzHKWe7i
7:50pm May 23rd 2016 via Hootsuite
Why the Virtual-Reality Hype is About to Come Crashing Down - WSJ https://t.co/jwErdkB838
6:05pm May 23rd 2016 via Hootsuite
RT @ACGT_blog: 101 questions with a bioinformatician #2: Titus Brown (@ctitusbrown) https://t.co/qxW6ri5lse https://t.co/zwhu0xtsA0
5:30pm May 23rd 2016 via Hootsuite
'People are hungry for real bookstores': Judy Blume on why US indie booksellers are thriving | The Guardian https://t.co/yg34oNRL8S
4:40pm May 23rd 2016 via Hootsuite
Researchers find that Earth may be home to one trillion species | https://t.co/9r9Lnizgds https://t.co/rxGJZMZYRl
3:10pm May 23rd 2016 via Hootsuite
Rehm: A2: Afterwards, the share-and-compare is the 'next best thing' #ESHG2016
1:06pm May 23rd 2016 via Hootsuite
Q: Should labs join up in interpretation? Rehm: In theory, great, but may not be practical. Baby-Seq has the luxury. #ESHG2016
Lincoln: Advice for people w/o wide expertise? Rehm: Resolution had to go to experts' input on spec gene function #ESHG2016
1:04pm May 23rd 2016 via Hootsuite
Rehm: Shared a lot of resources, and announced June 22-26 Curating the Clinical Genome at Wellcome Trust https://t.co/zR1PxzGSyv #ESHG2016
1:01pm May 23rd 2016 via Hootsuite
Rehm: 'All evidence must be accessible and rules applied correctly'. Var classification often req professional judgement #ESHG2016
12:53pm May 23rd 2016 via Hootsuite
Rehm: Four labs (Ambry, GeneDx, Partners LMM, Univ Chicago) submitted 49,834 var's. 6169 shared; resolved 86% of discrepent. #ESHG2016
12:51pm May 23rd 2016 via Hootsuite
Rehm: Launched https://t.co/NaonVoaJV3 - 1.2% differences in interpretation (with at least 2 var's) Can find where diff's are #ESHG2016
12:50pm May 23rd 2016 via Hootsuite
Rehm: This work was just published '16 AJHG https://t.co/NQVPk1F5Jc Talks about ClinVar variant review #ESHG2016
12:49pm May 23rd 2016 via Hootsuite
Rehm: Problem - this variant is for a complex trait, should not be considered Mendelian #ESHG2016
12:47pm May 23rd 2016 via Hootsuite
