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Genomics & Health Impact Update

Volume 32  Number 17  May 1-8, 2014About the Update

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Reports and Publications

Birth Defects & Child Health

mom looking at her baby

Public perceptions of pharmacogenetics
Zhang SC, et al. Pediatrics 2014 Apr


Doctor Explaining Diagnosis To Her Female Patient

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

Genomic Testing & Laboratory Practice

a doctor pointing to an item

Next-generation sequencing: challenges and clinical translation, by Sandeep Pingle, Illumina Blog, Apr 30

Infectious Diseases

an infected cell

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

Reviews, News & Commentaries

Tools and Databases

numbers on a grid

NIH data sharing repositories

ClinGen: Resource dedicated to harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each year

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Molecular epidemiology of contemporary G2P[4] 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.

View previous CDC-authored publications

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About the Genomics & Health Impact Update

The Update includes genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive the update electronically every week sign-up here.


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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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