Genomics & Health Impact Update

Clinical utility gene card for: familial erythrocytosis
Hussein K, et al. Eur J Hum Genet 2012 Jan

Clinical utility gene card for: haemophilia B
Jenkins PV, et al. Eur J Hum Genet 2012 Jan

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE, Compton AG, Hershman SG, et al. Sci Transl Med. 2012 Jan 25;4(118):118ra10.

Sequencing-based diagnosis of mitochondrial disease, PHG Foundation, January 30

DNA sequencing quickly identifies metabolic diseases, The Scientist, January 25

A practical molecular assay to predict survival in resected non-squamous, non-small-cell lung cancer: development and international validation studies
Kratz J, He J, Van den Eeden S, et al. Lancet 2012 Jan 27

New lung cancer assay ready for prime time, Medscape, January 27 [by free subscription only]

Family History and Women With Ovarian Cancer: Is it Asked and Does it Matter?: An Observational Study
Lanceley A, et al. Int J Gynecol Cancer 2012 Feb;22(2):254-9

Family History Record and Hereditary Cancer Risk Perception according to National Cancer Institute Criteria in a Spanish Medical Oncology Service: A Retrospective Study
Marquez-Rodas I, et al. Oncology 2012 Jan;82(1):30-4

"PancPro" as a tool for selecting families eligible for pancreatic cancer screening: An Italian study of incident cases
Leonardi G, et al. Dig Liver Dis 2012 Jan

A Decision-Tree Approach to Cost Comparison of Newborn Screening Strategies for Cystic Fibrosis
Wells J, et al. Pediatrics 2012 Jan

Adoption of Pharmacogenomic Testing by US Physicians: Results of a Nationwide Survey
Stanek EJ, et al. Clin Pharmacol Ther 2012 Jan

Clinical Implementation of KRAS Testing in Metastatic Colorectal Carcinoma: The Pathologist's Perspective
Ross JS Arch Pathol Lab Med 2012 Jan

Chromosomal microarray testing
Faucett A and Savage M. JAAPA 2012

Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009
Wilson C, et al. N Z Med J 2012;125(1348):42-50

Follow-Up of Children Diagnosed with Familial Hypercholesterolemia in a National  Genetic Screening Program
Avis HJ, et al. J Pediatr 2012 Jan

Survey of Genetic Counselors and Clinical Geneticists' Use and Attitudes Towards  Pharmacogenetic Testing
Haga SB, et al. Clin Genet 2012 Jan

The development and implementation of an in-service exam for medical genetics residency programs
Robin NH, et al. Genet Med 2012 Jan

The long quest for neonatal screening for severe combined immunodeficiency
Buckley RH J Allergy Clin Immunol 2012 Jan

Ethical and Policy Considerations in the Application of Pharmacogenomic Testing for Tardive Dyskinesia: Case Study of the Dopamine D3 Receptor
Shamy MC, et al. Curr Pharmacogenomics Person Med 2011 Jun;9(2):94-101

Genetic testing legislation in Western Europe-a fluctuating regulatory target
Soini S J Community Genet 2012 Jan

Legislation on direct-to-consumer genetic testing in seven European countries
Borry P, et al. Eur J Hum Genet 2012 Jan

Tackling legal challenges posed by population biobanks: reconceptualising consent requirements
Otlowski MF Med Law Rev 2012 Jan

Prioritization in Comparative Effectiveness Research: The CANCERGEN Experience
Thariani R, et al. Med Care 2012 Jan

Utility of Genome-Wide Association Study findings: prostate cancer as a translational research paradigm
Turner AR, et al. J Intern Med 2012 Jan

Concept paper on key aspects for the use of pharmacogenomic methodologies in the pharmacovigilance evaluation of medicinal products [PDF 81.78KB]

Consultation: genomic influence on pharmacovigilence, PHG Foundation, February 1

Strategic Report on Genotype-Phenotype Resources in the European Union [PDF 2.32 MB]

EU group sees need for more efforts on genotype-phenotype resources, Genome Web, January 31 [by free subscription only]

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Schwartzentruber J, Korshunov A, Liu XY, et al. Nature. 2012 Jan 29.

Genetic breakthrough for brain cancer in children, Science Daily, January 31

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
Bonnefond A. Nature Genetics 2012

Genetic study links body clock receptor to diabetes, Medical Press, January 29

Genome-wide pharmacogenetics of bisphosphonate-induced osteonecrosis of the jaw: the role of RBMS3
Nicoletti P, Cartsos V, et al. Oncologist. 2012 Jan 20.

Genetic variation that raises risk of serious complication linked to osteoporosis drugs identified, Science Daily, January 27

Integrative deep sequencing of the mouse lung transcriptome reveals differential expression of diverse classes of small RNAs in response to respiratory virus infection
Peng X, Gralinski L, Ferris MT, Frieman MB, Thomas MJ, Proll S, Korth MJ, Tisoncik JR, Heise M, Luo S, Schroth GP, Tumpey TM, Li C, Kawaoka Y, Baric RS, Katze MG. mBio. 2011 ;2(6).

Monitoring HPV type-specific prevalence over time through clinic-based surveillance: a perspective on vaccine effectiveness
Gaffga NH, Flagg EW, Weinstock HS, Shlay JC, Ghanem KG, Koutsky LA, Kerndt PR, Hsu KK, Unger ER, Datta SD. Vaccine. 2012 Jan 17.

Molecular dissection of an outbreak of carbapenem-resistant enterobacteriaceae reveals intergenus KPC carbapenemase transmission through a promiscuous plasmid
Mathers AJ, Cox HL, Kitchel B, Bonatti H, Brassinga AK, Carroll J, Scheld WM, Hazen KC, Sifri CD. mBio. 2011 ;2(6):e00204-11.

Multistate outbreak of MDR TB identified by genotype cluster investigation
Barry PM, Gardner TJ, Funk E, Oren E, Field K, Shaw T, Langer AJ. Emerg Infect Dis. 2012 Jan;18(1):113-6.

Consortia of genome-wide association studies (GWAS)
Bennett S, Caporaso N, Jaddoe V, et al. Wikigenes

Ethics and Genomics, GenomEthics

Ethics and Genomic Research: ‘Genomethics’, Genome Unzipped, January 31

Should people know about the results of their genome screening? Abc News, January 31

Canada launches US$67.3M large-scale genomics grant program, Genome Web, January 30 [by free subscription only]

How should genomic information be shared? Abc News, January 30