Genomics & Health Impact Update
Volume 33 Number 4 July 31 - August 7, 2014About the Update
The National Human Genome Research Institute has released a Research Program call for applications in ethical, legal and social issues (ELSI) in genomics . Examples of specific research topics of interest can be found on the ELSI Research Priorities website:
PA-14-276: Regular Research Program (R01)
PA-14-277: Small Research Grant Program (R03)
PA-14-278: Exploratory/Developmental Research Program (R21)
NIH launches new program to find potential drug targets, NIH News, Jul 31
A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders
Goodwin J, et al. J Intellect Disabil Res 2014 Jul
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
Jaeken J, et al. Eur J Hum Genet 2014 Jul
Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling
Lopez-Hernandez LB, et al. Genet Couns 2014;25(2):129-41
Genetic testing and neuroimaging for youth at risk for mental illness: Trading off benefit and risk
Lee G, et al. Curr Top Behav Neurosci 2014 Jul
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.
Giglio S, et al. J Am Soc Nephrol. 2014 Jul 24. pii: ASN.2013111155.
Impact of behavioral genetic evidence on the perceptions and dispositions of child abuse victims
Raad R & Appelbaum PS Public Health Genomics 2014 Jul
IthaGenes: An interactive database for haemoglobin variations and epidemiology
Kountouris P, et al. PLoS One 2014;9(7):e103020
Transplantation outcomes for severe combined immunodeficiency, 2000–2009
Sung-Yun Pai, et al. N Engl J Med. 2014 Jul 31;371(5):434-446.
Cancer risk awareness and concern among women with a family history of breast or ovarian cancer
Andersen MR, et al. Behav Med 2014 Jul:0
Conversion, correction, and international scale standardization: Results from a multicenter external quality assessment study for BCR-ABL1 testing
Griffiths M, et al. Arch Pathol Lab Med 2014 Jul
Developing clinical cancer genetics services in resource-limited countries: The case of retinoblastoma in Kenya
He LQ, et al. Public Health Genomics 2014 Jul
From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo
Mvila GL, et al. BMC Public Health 2014 Jul;14(1):759
Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil
Vieira DK, et al. J Community Genet 2014 Jul
Impact of family history on prostate cancer mortality in Caucasian men undergoing PSA-based screening
Liss MA, et al. J Urol 2014 Jul
Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies
Evans DG, et al. J Med Genet 2014 Jul
Metastatic colorectal cancer treatment patterns according to Kirsten Rat Sarcoma Viral Oncogene Homolog genotype in U.S. community-based oncology practices
Landsman-Blumberg PB, et al. Clin Colorectal Cancer 2014 Jun
Sensitivity and specificity of the empirical lymphocyte genome sensitivity (LGS) assay: implications for improving cancer diagnostics
Anderson D, et al. FASEB J 2014 July 25
'Universal' blood test for cancer is in the works, by Sara Gates, The Huffington Post, Jul 29
Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas
Trottier M, et al. Clin Genet 2014 Jul
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
Clara Esteban-Jurado MSc et al. Genetics in Medicine, July 23, 2014
Genetics is the dominant risk factor for familial breast, prostate, and colorectal cancers, Kathy Boltz Oncology Nurse Advisor Jul 28
New molecular test increases odds of correct surgery for thyroid cancer patients, The ASCO Post, Jul 24
Anticipated motivation for genetic testing among smokers, nonsmokers, and former smokers: An exploratory qualitative study of decision making
Giordimaina AM, et al. Public Health Genomics 2014 Jul
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
Cuchel M, et al. Eur Heart J 2014 Jul
ICYMI podcast: Novel biomarkers for acute myocardial infarction: Is MicroRNA the
new kid on the block? July 2014
Genetic information, non-discrimination, and privacy protections in genetic counseling practice
Prince AE & Roche MI J Genet Couns 2014 Jul
The ethical framing of personalized medicine
Joly Y, et al. Curr Opin Allergy Clin Immunol 2014 Jul
Can we regulate gene editing without killing it? By Tabitha M. Powledge, Genetic Literacy Project, Jul 29
An assessment of Canadian systems for triaging referred out genetic testing
Christian S, et al. Clin Genet 2014 May
Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
Köhler S, et al. Am J Hum Genet. 2009 Oct;85(4):457-64
Smartphone app could simplify diagnosis of hereditary diseases, Medical News Today, Jul 30
Comparison of commercial genetic-testing services in Korea with 23andMe service
Kim S, et al. Biomed Res Int 2014;2014:539151
Genome-wide profiling is a clinically relevant and affordable prognostic test in posterior uveal melanoma
Cassoux N, et al. Br J Ophthalmol 2014 Jun;98(6):769-74
Sensitivity and specificity of the empirical lymphocyte genome sensitivity (LGS) assay: implications for improving cancer diagnostics.
Anderson D, et al. FASEB J. 2014 Jul 25. pii: fj.14-254748.
Potential 'universal' blood test for cancer discovered, University of Bradford, Jul 28
The challenges of genome analysis in the health care setting
Lucassen A & Houlston RS Genes (Basel) 2014;5(3):576-85
Guidelines for diagnosis and treatment of Hunter syndrome for clinicians in Latin America
Giugliani R, et al. Genet Mol Biol 2014 Jun;37(2):315-29
Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US Multi-Society Task Force on Colorectal Cancer
Giardiello FM, et al. Am J Gastroenterol 2014 Jul
Screening for breast cancer, U.S. Preventive Services Task Force (USPSTF), Jul 24
Genomics reveals mechanism for malaria drug resistance, Drug Discovery & Development, Jul 25
Genotype-guided drug prescribing: A systematic review and meta-analysis of randomized control trials
Goulding R, et al. Br J Clin Pharmacol 2014 Jul
EMQN best practice guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Traeger-Synodinos J, et al. Eur J Hum Genet 2014 Jul
Neonatal outcome after preimplantation genetic diagnosis
Eldar-Geva T, et al. Fertil Steril 2014 Jul
Research metrics: Calling science to account.
Tim Thwaites. Nature, July 24
Gene test predicts blindness after LASIK, by Ricki Lewis, PLoS Blogs, Jul 31
Obesity: is it all in the genes? By Tim Caulfield, IPAC Impact, Jul 31
Genomic medicine: Evolution or revolution? By Hillary Burton, PHG Foundation, Jul 29
How genetics advancements are paving way for opportunities in rare disease research, diagnosis & treatment, by Chelsea A, CBI Scene Blog, Jul 29
Guidelines for genome-sequencing tests for kids, Stanford Medicine, Summer 2014
The social genomics project wants your opinion, by Rhonda Reinhart, Genome Mag, Jul 29
Why does genetic testing take so long? I have Lynch syndrome blog, Jul 23
Genetically engineering almost anything, By Tim De Chant and Eleanor Nelsen, Nova PBS, Jul 17
The future of cancer genomics -a new era of NGS has begun with the focus shifted from discovery to integration into the clinic, by Dan Koboldt, Genetic Engineering and Biotechnology News, Jul 17
CDC authors are indicated in bold
Polymorphisms in Plasmodium falciparum Chloroquine Resistance Transporter and Multidrug Resistance 1 Genes: Parasite Risk Factors that Affect Treatment Outcomes for P. falciparum Malaria after Artemether-Lumefantrine and Artesunate-Amodiaquine.
Venkatesan M, Gadalla NB, Stepniewska K, … Thwing J, … Zongo I, Plowe CV, Sibley CH. Am J Trop Med Hyg. 2014 Jul 21. pii: 14-0031.
Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.
De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D. Mol Genet Metab. 2014 Jul 17. pii: S1096-7192(14)00214-5.
Reference panel of cloned HIV-2 plasmid DNA for nucleic acid assay development, evaluation, and quality monitoring.
Youngpairoj AS, Curtis KA, Wells SK, Pau CP, Granade TC, Owen SM. J Clin Virol. 2014 Jul 7. pii: S1386-6532(14)00261-3.
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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