Genomics & Health Impact Update
Volume 32 Number 2 January 16- 23, 2014About the Update
Contents of the week
CDC Public Health Grand Rounds: Measuring Science Impact, Webinar, January 21 at 1 pm
Institute of Medicine Roundtable on Translating Genomics into Health: Assessing genomic sequencing information for health care decision making: A workshop Washington, DC, February 3 at 8:30 am
Scripps Seaside Forum: 7th Annual Future of Genomic Medicine Program, [PDF 1.02 Mb] La Jolla, CA, March 6-7
Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient-family member dyads
Shin DW, et al. Clin Genet 2014 Jan
Discovery and saturation analysis of cancer genes across 21 tumour types.
Lawrence MS, et al. Nature 2014 Jan 5
Landscape of genomic alterations in cervical carcinomas.
Ojesina A, et al. Nature. 2013 Dec 25.
Systematic and comprehensive genomic study of cervical cancer completed, Oncology Nurse Advisor, Jan 13
Oncologists' attitudes toward KRAS testing: a multisite study
Harris JN, et al. Cancer Med 2013 Dec;2(6):881-8
Realizing the promise of cancer predisposition genes
Rahman N Nature 2014 Jan 15
Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis.
Ryan S, et al. Cancer Epidemiol Biomarkers Prev. 2014 Jan 14.
The additional value of endometrial sampling in the early detection of endometrial cancer in women with Lynch syndrome
Helder-Woolderink JM, et al. Gynecol Oncol 2013 Nov;131(2):304-8
Risk-based breast cancer screening: studies suggest alternatives to age-based guidelines, by Caroline McNeil, ASCO Post, Jan 15
Free the data.
Lambertson K, Terry SF. Genet Test Mol Biomarkers. 2014 Jan;18(1):1-2.
Prenatal whole-genome sequencing — Is the quest to know a fetus's future ethical?
Yurkiewicz N, et al N Engl J Med 2014; 370:195-197 Jan 16 2014
Regulation: The FDA is overcautious on consumer genomics
Green R & Farahany N Nature 2014 Jan15
Not your everyday nonpaternity story, The Faculty Lounge, Jan 8
Leveraging family history in population-based case-control association studies.
Ghosh A, et al. Genet Epidemiol. 2014 Jan 9
Preferences regarding targeted education and risk assessment in people with a family history of major depressive disorder
Quinn V, et al. J Genet Couns 2014 Jan
Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study
Hanning KA, et al. Health Expect 2014 Jan
Clopidogrel metaboliser status based on point-of-care CYP2C19 genetic testing in patients with coronary artery disease
Erlinge D, et al. Thromb Haemost 2014 Jan;111(5)
Points to consider in the clinical use of NGS panels for mitochondrial disease: An analysis of gene inclusion and consent forms
Platt J, et al. J Genet Couns 2014 Jan
Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma
Souzeau E, et al. Genet Med 2014 Jan
Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol
Bielinski SJ, et al. Mayo Clin Proc 2014 Jan;89(1):25-33
Clinical whole genome analysis: delivering the right diagnosis, by Dr Leila Luheshi and Dr Sobia Raza, PHG Foundation, Jan 2014
Aiming to push genomics forward in new study, by Andrew Pollack, New York Times, Jan 13
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Samuel P. Strom et al. Genetics in Medicine, Jan 9, 2014
American College of Medical Genetics: Phenylalanine hydroxylase deficiency: diagnosis and management guideline, Genetics in Medicine, January 2, 2014
Systematic review: Nutrition management of phenylalanine hydroxylase deficiency.
Rani H. Singh et al. Genetics in Medicine, January 2, 2014
Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board
Holm IA, et al. Genet Med 2014 Jan
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Vockley J et al. Genet Med. 2014 Jan 2.
New recommendations for phenylketonuria (PKU) management, PHG Foundation, Jan 13
Parental permission for pilot newborn screening research: Guidelines from the NBSTRN
Botkin JR, et al. Pediatrics 2014 Jan
States stress newborn screening for home births: Initiatives emphasize education about the importance of bloodspot tests, hearing screens
Am. J. Med. Genet 2013 Dec; 161: viii–ix.
Approval gap of pharmacogenomic biomarkers and in vitro companion diagnostics between the United States and Japan
Shimazawa R & Ikeda M J Clin Pharm Ther 2014 Jan
Building pharmacogenetics into a pharmacovigilance program in Singapore: using serious skin rash as a pilot study
Toh DS, et al. Pharmacogenomics J 2014 Jan
Global pharmacogenomics: Distribution of CYP3A5 polymorphisms and phenotypes in the Brazilian population
Guilherme Suarez-Kurtz et al. PloS One, January 2014
Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing
Engels MA, et al. Eur J Obstet Gynecol Reprod Biol 2013 Dec
Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease
McKibbin M, et al. Eur J Hum Genet 2014 Jan
Knowledge, group-based medical mistrust, future expectations, and perceived disadvantages of medical genetic testing: perspectives of black African immigrants/refugees
Buseh A, et al. Public Health Genomics 2013 Dec
Laboratory informatics based evaluation of methylene tetrahydrofolate reductase C677T genetic test overutilization
Cohen DA, et al. J Pathol Inform 2013;4:33
Second-pandemic strain of vibrio cholerae from the Philadelphia cholera outbreak of 1849
Alison M. Devault, et al. New Engl J Med, January 8, 2014
With help of victims from 1849, scientists decode early strain of cholera, New York Times, Jan 8
Cardiovascular disease risk prediction in women: Is there a role for novel biomarkers?
Nina P. Paynter et al. Clinical Chemistry, January 2014
Data sharing will pay dividends.
Nature editorial. 07 Jan
Next-generation sequencing may reduce cost and wait time for some genetic diagnoses: Experts argue that clinical evaluation remains crucial
Levenson, D Am. J. Med. Genet A 2013 Dec; 161A(12): vii-viii
Risks of nutrigenomics and nutrigenetics? What the scientists say.
Hurlimann T, et al. Genes Nutr. 2014 Jan;9(1):370.
Testing times for the consumer genetics revolution.
Donna Dickenson, New Scientist, Jan 13, 2014
As genomics breaches cancer walls, researchers forge new treatment paths, by Steven Benowitz, NHGRI, Jan 14
The rise and fall and rise again of Mendelism, by Anne Buchanan, The Mermaid Tale, Jan 13
Irresistible force meets immoveable object. Nature Biotechnology, Editorial, Jan 9
Revved-up epigenetic sequencing may foster new diagnostics, Arielle Duhaime-Ross. Nature Medicine, January 7, 2014
Evidence based medicine—it’s time to be critical, by William Cayley, BMJ blog post, Jan 7
Infrastructure is the basis of resilience—identifying data, communicating with people and & interacting with healthcare system, Dr Tom Frieden, CDC Director at Rockefeller Foundation innovation forum, December 2013
'DNA tells great stories -- about the past, not future', by Cecile Janssens, Wired, December 2013
STORMSeq: An open-source, user-friendly pipeline for processing personal genomics data in the cloud
Karczewski K, et al. PLoS One 2014 Jan 15
CDC authors are indicated in bold
Horizon scanning for translational genomic research beyond bench to bedside.
Clyne M, Schully SD, Dotson WD, Douglas MP, Gwinn M, Kolor K, Wulf A, Bowen MS, Khoury MJ.
Rotavirus G and P types circulating in the eastern region of Kenya: predominance of G9 and emergence of G12 genotypes
Kiulia NM, Nyaga MM, Seheri ML, Wolfaardt M, van Zyl WB, Esona MD, Irimu G, Inoti M, Gatinu BW, Njenga PK, Taylor MB, Nyachieo A. Pediatr Infect Dis J. 2014 Jan;33 Suppl 1:S85-8.
Mutation analysis of a cohort of US patients with hemophilia B
Li T, Miller CH, Driggers J, Payne AB, Ellingsen D, Hooper WC. Am J Hematol. 2013 Dec 4.
Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?
Rogowski WH, Grosse SD, Schmidtke J, Marckmann G. Eur J Hum Genet. 2014 Jan;22(1):25-31.
Application of real time RT-PCR for the genetic homogeneity and stability tests of the seed candidates for live attenuated influenza vaccine production
Shcherbik S, Sergent SB, Davis WG, Shu B, Barnes J, Kiseleva I, Larionova N, Klimov A, Bousse T. J Virol Methods. 2014 Jan;195:18-25.
Full-length genome characterization and genetic relatedness analysis of hepatitis A virus outbreak strains associated with acute liver failure among children
Vaughan G, Forbi JC, Xia GL, Fonseca-Ford M, Vazquez R, Khudyakov YE, Montiel S, Waterman S, Alpuche C, Goncalves Rossi LM, Luna N. J Med Virol. 2014 Feb;86(2):202-8.
Allele-specific qRT-PCR demonstrates superior detection of single nucleotide polymorphisms as genetic markers for West Nile virus compared to Luminex((R)) and quantitative sequencing
Worwa G, Andrade CC, Thiemann TC, Park B, Maharaj PD, Anishchenko M, Brault AC, Reisen WK. J Virol Methods. 2014 Jan;195:76-85.
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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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