Genomics & Health Impact Update

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families
Schneegans SM, et al. Fam Cancer 2011 Dec 13.

Genetic diagnosis of Duchenne and Becker Muscular Dystrophy using next-generation sequencing technology, Medscape, December 11 [by free subscription only]

Computer-assisted versus oral-and-written family history taking for identifying people with elevated risk of type 2 diabetes mellitus
Pappas Y, et al. Cochrane Database Syst Rev 2011 Dec

Gene inheritance patterns influence age of diagnosis in BRCA families, Medical News Today, December 13

Family tree may affect diagnosis age in some breast cancers, Medline Plus, December 8

Use the holidays to collect a family health history, Tampa Bay Online, December 8

Ask the doctor: Family health history, KARE, December 7

Are Nursing Faculty Ready to Integrate Genomic Content Into Curricula?
Jenkins JF & Calzone KA. 2012 Jan;37(1):25-29.

Giving and Withholding of Information following Genomic Screening: Challenges Identified in a Study of Primary Care Physicians in Estonia
Leitsalu L, et al. J Genet Couns 2011 Dec 8

The Impact of Population-Based Screening Studies on Hemochromatosis Screening Practices
Chandok N, et al. Dig Dis Sci  2011 Dec 10

Urologists' and GPs' knowledge of hereditary prostate cancer is suboptimal for prostate cancer counseling: a nation-wide survey in The Netherlands
Cremers R, et al. Fam Cancer. 2011 Dec 11

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.
Goldman JS, Hahn SE, Catania JW, et al. Genet Med. 2011 Jun;13(6):597-605.

Genetic testing for Alzheimer's risk: Study participants talk about their genetic test results, Medical News Today, December 14

USPTO Tasked with Evaluating Impact of Gene Patents on Second-Opinion Testing, GEN, December 15

Supreme Court mulls personalized med, The Scientist, December 9

ACLU and PUBPAT ask Supreme Court to rule that patents on breast cancer genes are invalid, ACLU, December 7

Geneticists call for regulation of DTC Genome, exome sequencing tests, Genome Web, December 7 [by free subscription only]

Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility
Cassa CA, et al. Genome Res 2011 Dec

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)
Hilbert JE, et al. Contemp Clin Trials 2011 Nov 26

Merry Christmas for Patients with Hemophilia B
Ponder K.  New England Journal of Medicine 2011 Dec 10

Gene therapy helps patients with hemophilia B, NIH News, December 12

Treatment for blood disease is gene therapy landmark, The New York Times, December 10

Genetic profile in ALL -- Should all patients be screened? Medscape, December 13 [by free subscription only]

Dissecting the Genetics of Complex Inheritance: Linkage Disequilibrium Mapping Provides Insight into Crohn's Disease
Elding H, Lau W, Swallow D, et al. American Journal of Human Genetics 2011; 89(6);798-805

Personalized treatment for Crohn's Disease a step closer following gene mapping, Medical Press, December 8

Gene-environment interaction in chronic disease: A European Science Foundation Forward Look
Renz H, Autenrieth I, Brandtzæg P, et al. J Allergy Clin Immunol. 2011 128(6) Suppl;S27-S49

Scientists identify strategies to conquer lifestyle and genetic factors related to chronic diseases, Medical News Today, December 8

Development of a high-throughput microsphere-based molecular assay to identify 15 common bloodmeal hosts of Culex mosquitoes
Thiemann TC, Brault AC, Ernest HB, Reisen WK. Mol Ecol Resour. 2011 Dec 4.

Differential microRNA expression and virulence of avian, 1918 reassortant, and reconstructed 1918 influenza A viruses
Li Y, Li J, Belisle S, Baskin CR, Tumpey TM, Katze MG. Virology. 2011 Dec 20;421(2):105-13.

DNA priming and influenza vaccine immunogenicity: two phase 1 open label randomised clinical trials
Ledgerwood JE, Wei CJ, Hu Z, Gordon IJ, Enama ME, Hendel CS, McTamney PM, Pearce MB, Yassine HM, Boyington JC, Bailer R, Tumpey TM, Koup RA, Mascola JR, Nabel GJ, Graham BS. Lancet Infect Dis. 2011 Dec;11(12):916-924.

Iron overload what is the role of public health? 
Hulihan MM, Sayers CA, Grosse SD, Garrison C, Grant AM. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S422-7.

A public health framework for rare blood disorders
Grosse SD, James AH, Lloyd-Puryear MA, Atrash HK. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S319-23.

First NDM-positive Salmonella sp. strain identified in the United States
Savard P, Gopinath R, Zhu W, Kitchel B, Rasheed JK, Tekle T, Roberts A, Ross T, Razeq J, Landrum BM, Wilson LE, Limbago B, Perl TM, Carroll KC. Antimicrob Agents Chemother. 2011 Dec;55(12):5957-8.

Human T-cell lymphotropic virus type 3 (HTLV-3)- and HTLV-4-derived antisense transcripts encode proteins with similar tax-inhibiting functions but distinct subcellular localization
Larocque E, Halin M, Landry S, Marriott SJ, Switzer WM, Barbeau B. J Virol. 2011 Dec;85(23):12673-85.

Public health implications of sickle cell trait: a report of the CDC meeting
Grant AM, Parker CS, Jordan LB, Hulihan MM, Creary MS, Lloyd-Puryear MA, Goldsmith JC, Atrash HK. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S435-9.

Screening U.S. college athletes for their sickle cell disease carrier status
Jordan LB, Smith-Whitley K, Treadwell MJ, Telfair J, Grant AM, Ohene-Frempong K. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S406-12.

Sickle cell disease in Africa: a neglected cause of early childhood mortality
Grosse SD, Odame I, Atrash HK, Amendah DD, Piel FB, Williams TN. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S398-405.

Sickle cell disease the need for a public health agenda
Yusuf HR, Lloyd-Puryear MA, Grant AM, Parker CS, Creary MS, Atrash HK. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S376-83.

Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005
Jackson JM, Crider KS, Rasmussen SA, Cragan JD, Olney RS. Am J Med Genet A. 2011 Dec 2.

Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans
Zhang L, Yesupriya A, Hu DJ, Chang MH, Dowling NF, Ned RM, Udhayakumar V, Lindegren ML, Khudyakov Y. Hepatology. 2011 Dec 2.

New NHGRI projects seek to further sequencing-based medicine, Genome Web, December 9 [by free subscription only]