Genomics & Health Impact Update
Volume 32 Number 17 May 1-8, 2014About the Update
Features of the Week
Ethics at the Crossroads: Where Public Health, Genomics, Data, and Translational Science Meet
May 7 ~ Indianapolis, IN
The Cancer Genome Atlas' 3rd Annual Scientific Symposium
May 12-13 ~ Bethesda, MD
American Society of Gene & Cell Therapy 17th Annual Meeting
May 21-24 ~ Washington, DC
NIH to fund new centers of excellence in genomic sciences, Genome Web, Apr 28 [by free subscription only]
NHGRI to fund development of genomics community resources, Genome Web, Apr 25 [by free subscription only]
Public perceptions of pharmacogenetics
Zhang SC, et al. Pediatrics 2014 Apr
Can an online risk assessment tool for identification of hereditary colorectal cancer reach the at-risk population and influence screening compliance?
Schurmanns K, et al. Dtsch Med Wochenschr 2014 May;139(18):935-40
Can breast surgeons provide breast cancer genetic testing? An American Society of Breast Surgeons survey
Beitsch PD & Whitworth PW Ann Surg Oncol 2014 Apr
Characterization of family history profiles in a large series of Lynch syndrome carriers
Garner E, et al. Obstet Gynecol 2014 May;123 Suppl 1:91S
Cost-effectiveness of family history-based colorectal cancer screening in Australia
Ouakrim DA, et al. BMC Cancer 2014 Apr;14(1):261
Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors
Roth JJ, et al. Cancer Genet 2014 Mar
Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives
Dilzell K, et al. Fam Cancer 2014 Apr
Evaluation of clinical criteria for the identification of Lynch syndrome among unselected endometrial cancer patients
Bruegl AS, et al. Cancer Prev Res (Phila) 2014 Apr
Genetic testing in the clinical care of patients with pheochromocytoma and paraganglioma
Rana HQ, et al. Curr Opin Endocrinol Diabetes Obes 2014 Apr
Hereditary cancer family history risk assessment outcomes in an obstetrics and gynecology population
Lofquist F, et al. Obstet Gynecol 2014 May;123 Suppl 1:93S
Mismatch repair protein immunohistochemistry: a useful population screening strategy for Lynch syndrome
Musulen E, et al. Hum Pathol 2014 Feb
Pretest genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida
Vadaparampil ST, et al. Clin Genet 2014 Apr
Risk prediction for late-stage ovarian cancer by meta-analysis of 1525 patient samples.
Riester M, et al. J Natl Cancer Inst. 2014 Apr 3.
Comparative meta-analysis of prognostic gene signatures for late-stage ovarian cancer.
Waldron L, et al. J Natl Cancer Inst. 2014 Apr 3.
Individualizing care for ovarian cancer patients using big data
Fridley BL, et al. J Natl Cancer Inst. 2014 Apr 3.
Molecular signatures may help guide ovarian cancer debulking, Medscape, Apr 29 [by free subscription only]
Testing for familial BRCA1-2 mutations: Implications for genetic counseling and risk assessment
Sims TT, et al. Obstet Gynecol 2014 May;123 Suppl 1:185S-6S
The evolution of cancer risk assessment in the era of next generation sequencing
Fecteau H, et al. J Genet Couns 2014 Apr
The genetic testing experience of BRCA-positive women: Deciding between surveillance and surgery
Hesse-Biber S Qual Health Res 2014 Apr
The influence of dispositional optimism on post-visit anxiety and risk perception accuracy among breast cancer genetic counselees
Wiering BM, et al. Psychooncology 2013 Nov;22(11):2419-27
Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing
Aspinwall LG, et al. Genet Med 2014 Apr
Underestimation of risk of a BRCA1 or BRCA2 mutation in women with high-grade serous ovarian cancer by BRCAPRO: A multi-institution study
Daniels MS, et al. J Clin Oncol. 2014 Apr 20;32(12):1249-55.
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
Laduca H, et al. Genet Med 2014 Apr
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands
Weinreich SS, et al. Eur J Hum Genet 2014 Apr
Family screening in hypertrophic cardiomyopathy is underperformed, but can be improved by a specialised clinic
Olaussen A, et al. Intern Med J 2014 Apr
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
Watts GF, et al. Eur J Prev Cardiol 2014 Apr
Introducing genetic testing for cardiovascular disease in primary care: a qualitative study
Middlemass JB Research F, et al. Br J Gen Pract 2014 May;64(622):e282-e289
Familial Hypercholesterolemia: Underdiagnosed and undertreated, You Tube Video by Dr. Seth Baum, Apr 24
Disclosure of genetic research results to members of a founder population
Anderson RL, et al. J Genet Couns 2014 Apr
The ethical, legal, and social implications program of the National Human Genome Research Institute: Reflections on an ongoing experiment
McEwen JE, et al. Annu Rev Genomics Hum Genet 2014 Apr
GINA's sixth birthday: Does legislation protecting our genetic information mean anything? By Meredith Knight, Genetic Literacy Project, May 1
Next-generation sequencing: challenges and clinical translation, by Sandeep Pingle, Illumina Blog, Apr 30
Diagnosis of childhood tuberculosis and host RNA expression in Africa
Suzanne T. Anderson et al. New England Journal of Medicine, May 1, 2014
Natural selection and infectious disease in human populations
Karlsson E, et al. Nature Reviews Genetics (2014) Apr 29
Changes in prenatal testing trends after introduction of noninvasive prenatal testing
Larion S, et al. Obstet Gynecol 2014 May;123 Suppl 1:62S-3S
Effect of commercial cell-free fetal DNA tests for aneuploidy screening on rates of invasive testing
Louis-Jacques A, et al. Obstet Gynecol 2014 May;123 Suppl 1:67S
Noninvasive prenatal testing compared with invasive diagnostic testing in the setting of an abnormal state aneuploidy screen
Rad S, et al. Obstet Gynecol 2014 May;123 Suppl 1:100S
Noninvasive prenatal testing decreased diagnostic testing but not first-trimester screening
Larion S, et al. Obstet Gynecol 2014 May;123 Suppl 1:88S
Preferences for results from genomic microarrays: comparing parents and health care providers
Turbitt E, et al. Clin Genet 2014 Apr
Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates
Tobler KJ, et al. J Assist Reprod Genet 2014 Apr
Use of commercial tests for aneuploidy screening using cell-free fetal DNA in clinical practice
Louis-Jacques A, et al. Obstet Gynecol 2014 May;123 Suppl 1:154S
Biobanks and electronic medical records: Enabling cost-effective research
Erica Bowton et al. Science Translational Medicine, Apr 30
Mutations in 115-year-old provide perspective for personal genome sequencing, by Ricki Lewis, PLoS Blogs, May 1
Global Alliance sets initial priorities for genomics and health, by Dr Philippa Brice, PHG Foundation, Apr 30
Embedding genomics in the National Health Service in the UK, by Olivia Solon, Wired, Apr 29
The structure of DNA, 61 years later: How they did it, by Ashutosh Jogalekar, Scientific American, Apr 29
Two human genomes per hour: New technology to boost genome studies, Wellcome Trust., Apr 29
From volunteers, a DNA database, by Albert Sun, New York Times, Apr 28
Cleaning up your genetic code, by Caleb Hellerman, CNN Health, Apr 27
Studying the future of disease, by Julie Sidoni, WNEP, Apr 25
CDC authors are indicated in bold
Molecular epidemiology of contemporary G2P human rotaviruses cocirculating in a single U.S. community: footprints of a globally transitioning genotype
Dennis AF, McDonald SM, Payne DC, Mijatovic-Rustempasic S, Esona MD, Edwards KM, Chappell JD, Patton JT. J Virol. 2014 Apr;88(7):3789-801.
Occurrence and molecular characterization of Cryptosporidium spp. in yaks (Bos grunniens) in China.
Ma J, Cai J, Ma J, Feng Y, Xiao L. Vet Parasitol. 2014 Apr 4. pii: S0304-4017(14)00205-2.
Molecular Characterization of Cryptosporidium spp. in Children from Mexico.
Valenzuela O, González-Díaz M, Garibay-Escobar A, Burgara-Estrella A, Cano M, Durazo M, Bernal RM, Hernandez J, Xiao L. PLoS One. 2014 Apr 22;9(4):e96128.
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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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