Genomics & Health Impact Update
Volume 32 Number 20 May 21-29, 2014About the Update
Features of the Week
Exploring a Career in Genetic Counseling
May 27 ~ Los Angeles, CA
National Society of Genetic Counselors, 33rd Annual Education Conference
November 17-20, 2014 ~ New Orleans, LA
Clinical utility gene card for: 15q13.3 microdeletion syndrome
Tropeano M, et al. Eur J Hum Genet 2014 May
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history
Nguyen K, et al. Clin Genet 2014 May
Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families
Arnold AG, et al. Breast Cancer Res Treat 2014 May
Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)
Crook A, et al. Eur J Hum Genet 2014 May
Epidermal growth factor receptor tyrosine kinase (EGFR-TK) mutation testing in adults with locally advanced or metastatic non-small cell lung cancer: a systematic review and cost-effectiveness analysis
Westwood M, et al. Health Technol Assess 2014 May;18(32):1-166
Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: A review.
Lynch HT et al. Curr Treat Options Oncol. 2014 May 15
How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents' experience
Kattentidt-Mouravieva AA, et al. Fam Cancer 2014 May
Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling
Tong A, et al. Psychooncology 2014 May
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
Ben Zhang et al, Nature Genetics, May 18, 2014
Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: Systematic review and meta-analysis
Friebel TM, et al. J Natl Cancer Inst (2014) 106 (6): dju091 May 13
Surgery Isn't only option for women with ovarian cancer genes, Health Day, May 16
Non–small cell lung cancer and precision medicine: A model for the incorporation of genomic features into clinical trial design
Pasche B, et al. JAMA 2014 May 12
The population impact of familial cancer, a major cause of cancer.
Frank C, et al. Int J Cancer. 2014 Apr 15;134(8):1899-906.
The validation and clinical implementation of BRCAplus: A comprehensive high-risk breast cancer diagnostic assay
Chong HK, et al. PLoS One 2014;9(5):e97408
Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drug
Kris MG, et al. JAMA 2014 May 21
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Van Allen EM, et al. Nat Med. 2014 May 18.
New approach to analyzing tumor genome promises expanded results, NIH News, May 19
Lactose malabsorption testing in daily clinical practice: a critical retrospective analysis and comparison of the hydrogen/methane breath test and genetic test (c/t-13910 polymorphism) results
Enko D, et al. Gastroenterol Res Pract 2014;2014:464382
Multifactorial beliefs about the role of genetics and behavior in common health conditions: prevalence and associations with participant characteristics and engagement in health behaviors
Waters EA, et al. Genet Med 2014 May
Exploring pathways to trust: a tribal perspective on data sharing.
Rosalina James et al. Genetics in Medicine, May 15, 2014
Value judgments for priority setting criteria in genetic testing: A discrete choice experiment
Severin F, et al. Health Policy 2014 Apr
Assessing FDA’s crackdown of 23andMe, by Richard Park, MDT blog post, May 19
Lawsuit alleges unauthorized publication of personal genetics data, proposed class-action suit says family tree violated Alaska Genetic Privacy Act, by Cyrus Farivar, Ars Technical, May 14
Four rare diseases added to newborn screening, Nursing Times, May 19
What women want: lead considerations for current and future applications of noninvasive prenatal testing in prenatal care
Farrell RM, et al. Birth 2014 May
The hunt for missing genes.
Jocelyn Kaiser, Science 16 May 2014: Vol. 344 no. 6185 pp. 687-689
Towards structural systems pharmacology to study complex diseases and personalized medicine.
Lei Xie, et al. PloS Computational Biology. May 15, 2014
Genetic link between chronic pain conditions, by Dr Philippa Brice, PHG Foundation, May 21
Genetic risk prediction and neurobiological understanding of alcoholism
Levey DF, et al. Translational Psychiatry (2014) 4, e391 May 20
Potential predictive genetic test for alcoholism, by Dr Philippa Brice, PHG Foundation, May 21
NIH Research Matters: Longevity gene linked to better brain skills, May 19
NIH Research Matters: Expanding the genetic alphabet, May 19
Genetic 'typo' corrector, by Meeri N. Kim, Philly.com, May 18
Oncology community scrutinizing obstacles to personalized medicine, by Alicia Ault, Oncology Practice, May 15
The Angelina Jolie effect: One year later, by Diane Mapes, Fred Hutchinson Cancer Center, Mat 14
Large panel genetic testing produces more questions than answers in breast cancer, Medical Xpress, May 14
The European Genome-phenome Archive stores genome and phenome data on over 100,000 people, from 200 centres and research groups from all around the world
CDC authors are indicated in bold
Utilizing population controls in rare-variant case-parent association tests.
Jiang Y, Satten GA, Han Y, Epstein MP, Heinzen EL, Goldstein DB, Allen AS. Am J Hum Genet. 2014 May 14. pii: S0002-9297(14)00207-9.
Temporal changes in prevalence of molecular markers mediating antimalarial drug resistance in a high malaria transmission setting in Uganda
Mbogo GW, Nankoberanyi S, Tukwasibwe S, Baliraine FN, Nsobya SL, Conrad MD, Arinaitwe E, Kamya M, Tappero J, Staedke SG, Dorsey G, Greenhouse B, Rosenthal PJ. Am J Trop Med Hyg. 2014 May 5.
Divergent picobirnaviruses in human feces.
Ng TF, Vega E, Kondov NO, Markey C, Deng X, Gregoricus N, Vinjé J, Delwart E. Genome Announc. 2014 May 15;2(3). pii: e00415-14.
Full-genome analysis of avian influenza A(H5N1) virus from a human, North America, 2013
Pabbaraju K, Tellier R, Wong S, Li Y, Bastien N, Tang JW, Drews SJ, Jang Y, Davis CT, Fonseca K, Tipples GA. Emerg Infect Dis. 2014 May;20(5).
Donor-derived west nile virus infection in solid organ transplant recipients: report of four additional cases and review of clinical, diagnostic, and therapeutic features.
Winston DJ1, Vikram HR, Rabe IB, Dhillon G, Mulligan D, Hong JC, Busuttil RW, Nowicki MJ, Mone T, Civen R, Tecle SA, Trivedi KK, Hocevar SN; West Nile Virus Transplant-Associated Transmission Investigation Team. Transplantation. 2014 May 15;97(9):881-9.
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