Volume 33 Number 8 August 28 - September 4, 2014About the Update
Familial Hypercholesterolemia Awareness Day is September 24th, 2014- the FH Foundation will raise awareness of familial hypercholesterolemia worldwide
FDA Public Workshop: Next Generation Sequencing Standards
Bethesda, Sept 24-25, 2014.
NIST Big Data Public Working Group
Washington, DC. Oct 27-30, 2014.
Practice guideline for pulmonary hypertension in sickle cell: Direct evidence needed before universal adoption.
Hassell KL, et al. Am J Respir Crit Care Med. 2014 Jul
Obstructive sleep apnea and sickle cell anemia.
Rosen CL, et al. Pediatrics. 2014 Aug;134(2):273-81.
Bioinformatic analysis reveals a pattern of STAT3-associated gene expression specific to basal-like breast cancers in human tumors.
Robert W. Tell et al. PNAS July 2014
Cancer risk assessment using genetic panel testing: considerations for clinical application.
Hiraki S, et al. J Genet Couns. 2014 Aug;23(4):604-17.
Collaboration of Colorado cancer genetic counselors to integrate next generation sequencing panels into clinical practice.
Wolfe Schneider K, et al. J Genet Couns. 2014 Aug;23(4):640-6.
Genetic counseling strategies in the era of NGS-based cancer panels, Genome Web, Aug 20 [by free subscription only]
Comparative economics of a 12-gene assay for predicting risk of recurrence in stage II colon cancer
Alberts SR, et al. Pharmacoeconomics 2014 Aug
Effect of routine assessment of specific psychosocial problems on personalized communication, counselors' awareness, and distress levels in cancer genetic counseling practice: A randomized controlled trial.
Eijzenga W, et al. J Clin Oncol. 2014 Jul 21
Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population
van den Broek AJ, et al. Eur J Hum Genet 2014 Aug
Equivalency of fecal immunochemical tests and colonoscopy in familial colorectal cancer screening.
Quintero E et al. Gastroenterology. 2014 Aug 12.
Hereditary cancer syndromes with high risk of endometrial and ovarian cancer: Surgical options for personalized care.
McCann GA, et al. J Surg Oncol. 2014 Aug 20.
How can next-generation sequencing (genomics) help us in treating colorectal cancer?
Kristen K. Ciombor et al. Current Colorectal Cancer Reports. August 2014
Molecular features and survival outcomes of the intrinsic subtypes within HER2-positive breast cancer.
Prat A, et al. J Natl Cancer Inst. 2014 Aug 19;106(8).
Predicting OncoDX recurrence scores with immunohistochemical markers: Effect of stromelysin
Bradshaw SH, et al. Appl Immunohistochem Mol Morphol 2014 Aug
To worry or not to worry: breast cancer genetic counseling communication with low-income Latina immigrants
Joseph G & Guerra C J Community Genet 2014 Aug
Why you can’t treat breast cancer as one disease, by Megan Fellman, Northwestern University, Aug 21
Anticipate and communicate: Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 Report of the Presidential Commission for the Study of Bioethical Issues)
Weiner C Am J Epidemiol 2014 Aug
Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia)
Kononova SK, et al. Int J Circumpolar Health 2014;73
Building a data sharing model for global genomic research.
Patricia Kosseim et al. Genome Biology, August, 2014
Informed consent for biobanking: consensus-based guidelines for adequate comprehension
Beskow LM, et al. Genet Med 2014 Aug
Practical barriers and ethical challenges in genetic data sharing
Simpson CL, et al. Int J Environ Res Public Health 2014;11(8):8383-98
What makes public health studies ethical? Dissolving the boundary between research and practice
Willison DJ, et al. BMC Med Ethics 2014; 15:61.
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests
Aziz N, et al. Arch Pathol Lab Med 2014 Aug
Direct-to-consumer personal genome testing for age-related macular degeneration
Buitendijk GH, et al. Invest Ophthalmol Vis Sci 2014 Aug
Exploring barriers to payer utilization of genetic counselors
Doyle N, et al. J Genet Couns 2014 Aug
Predictive genetic testing for adult-onset disorders in minors: A critical analysis of the arguments for and against the 2013 ACMG guidelines.
Anderson JA, et al. Clin Genet. 2014 Jul 21
Respiratory physicians and clinic coordinators' attitudes to population-based cystic fibrosis carrier screening
Cunningham F, et al. J Cyst Fibros 2014 Jan;13(1):99-105
Antimicrobial susceptibility and molecular characterization of Mycobacterium intracellulare in China
Zhao X, et al. Infect Genet Evol, Aug 14, 2014
Disrupted human–pathogen co-evolution: a model for disease
Nuri Kodaman, et al. Front. Genet. 25 August 2014
Exploring gene function and parasite–host protein interactions
Bryony Jones Nature Reviews Genetics 2014 Aug 27
IL-32 is a molecular marker of a host defense network in human tuberculosis
Dennis Montoya et al. Science Translational Medicine, August 20, 2014
Unraveling novel broad-spectrum antibacterial targets in food and waterborne pathogens using comparative genomics and protein interaction network analysis
Jadhav A, et al. Infect Genet Evol, Aug 14, 2014
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
Kwan A, et al. JAMA 2014 Aug;312(7):729-38
Editorial Newborn screening for severe combined immunodeficiency: progress and challenges
Holtzman NA JAMA 2014 Aug;312(7):701-2
Implementation of personalized medicine services in community pharmacies: Perceptions of independent community pharmacists
Alexander KM, et al. J Am Pharm Assoc (2003) 2014 Aug:e326-e333
Personalized pharmacogenomics profiling using whole-genome sequencing.
Mizzi C, et al. Pharmacogenomics. 2014 Jun;15(9):1223-34.
Pharmacogenetic research in partnership with American Indian and Alaska Native communities
Woodahl EL, et al. Pharmacogenomics 2014 Jun;15(9):1235-41
PGx analysis of 482 whole genomes, the PhrmGKB Blog, Aug 22
Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma.
Gekas J, et al. Appl Clin Genet. 2014 Jul 7;7:127-31.
Introduction to bioinformatics- online course for clinicians, from the National Health Service, Genetics Education Center
Mobile genomics: Early insights and excitement as mobile DNA sequencing takes off, by
Dr Leila Luheshi, PHG Foundation Aug 26
Translating mutation to function: Genome editing may revolutionise how we interpret our genomes, by Leila Lehushi, PHG Foundation, Aug 27
CDC blog post: Family trees and family ties: Can family communication increase breast cancer screening and monitoring? By Kari Mendelsohn-Victor, Deb Duquette, Maria Katapodi, Aug 25
Disease biomarkers reflect genetics and lifestyle, too, GEN News Highlights, Aug 22
Nature vs nurture versus nature and nurture: A sketch of the history of the study of heredity, development, and variation, Intersecting processes post, Aug 22
Why nurture is just as important as nature for understanding genetics, The Conversation, Aug 22
A gene that makes you need less sleep? By Maria Konnikova, New Yorker, Aug 21
New test shows promise in identifying mystery illnesses, By Meredith Cohn, Baltimore Sun, Aug 21
Why DNA testing isn’t always best for customising medical treatment, The New Statesman, Aug 21
Cancer research: Not a one-size-fits-all approach, by Kathy Giusti, Wired, Aug 14
Cancer gene discovery goes mobile
Louise van der Weyden et al. Nature Genetics. 27 August 2014
CDC authors are indicated in bold
Comparative impacts over 5 years of artemisinin-based combination therapies on Plasmodium falciparum polymorphisms that modulate drug sensitivity in Ugandan children.
Conrad MD, LeClair N, Arinaitwe E, Wanzira H, Kakuru A, Bigira V, Muhindo M, Kamya MR, Tappero JW, Greenhouse B, Dorsey G, Rosenthal PJ. J Infect Dis. 2014 Aug 1;210(3):344-53.
Editorial: Updated guidance on Human Genome Epidemiology (HuGE) reviews and meta-analyses of genetic associations
Marta Gwinn, John P. Ioannidis, Julian Little and Muin J. Khoury Am. J. Epidemiol. (2014) Aug 26
Multilocus typing of Cryptosporidium spp. and Giardia duodenalis from non-human primates in China.
Karim MR, Zhang S, Jian F, Li J, Zhou C, Zhang L, Sun M, Yang G, Zou F, Dong H, Li J, Rume FI, Qi M, Wang R, Ning C, Xiao L.
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