Genomics & Health Impact Update

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey
Palomaki GE & Richards CS Genet Med 2012 Jan;14(1):69-75

Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review
Bradley LA, et al. Genet Med 2012 Jan;14(1):39-50

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
Ramsden SC, et al. Eur J Hum Genet 2012 Jan

Bias in the Reporting of Family History: Implications for Clinical Care
Ozanne EM, et al. J Genet Couns 2012 Jan

Communication About Family Members' Risk of Melanoma: Self-reported Practices of  Dermatologists in the United States
Oliveria SA, et al. Arch Dermatol 2012 Jan

Poor patient knowledge regarding family history of colon polyps: implications for the feasibility of stratified screening recommendations
Elias PS, et al. Gastrointest Endosc 2012 Jan

The family history: the first genetic test, and still useful after all those years?
Pyeritz RE Genet Med 2012 Jan;14(1):3-9

 "What does it mean?": Uncertainties in understanding results of chromosomal microarray testing.
Reiff M, et al. Genet Med 2012 Jan

A pre-visit website with question prompt sheet for counselees facilitates communication in the first consultation for breast cancer genetic counseling: findings from a randomized controlled trial
Albada A, et al. Genet Med 2012 Jan

Barriers to integrating personalized medicine into clinical practice: a best-worst scaling choice experiment
Najafzadeh M, et al. Genet Med 2012 Jan

Comparison of the US and Australian Cystic Fibrosis Registries: The Impact of Newborn Screening
Martin B, et al. Pediatrics 2012 Jan

Enhancing geneticists' perspectives of the public through community engagement
O'Daniel JM, et al. Genet Med 2012 Jan

Factors that influence parents' experiences with results disclosure after newborn screening identifies genetic carrier status for cystic fibrosis or sickle cell hemoglobinopathy
Collins JL, et al. Patient Educ Couns 2012 Jan

Genetic Testing Integration Panels (GTIPs): A Novel Approach for Considering Integration of Direct-To-Consumer and Other New Genetic Tests into Patient Care
Uhlmann WR & Sharp RR J Genet Couns 2012 Jan

Genomics and perinatal care
Bodurtha J & Strauss JF 3rd N Engl J Med 2012 Jan;366(1):64-73

Hereditary cancer risk assessment in a pediatric oncology follow-up clinic
Knapke S, et al. Pediatr Blood Cancer 2012 Jan;58(1):85-9

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible
Delatycki MB, et al. Eur J Hum Genet 2012 Jan

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance
Votava F, et al. Eur J Pediatr 2012 Jan

Prioritization of future genetics education for general practitioners: a Delphi study
Houwink EJ, et al. Genet Med 2012 Jan

The Wisconsin approach to newborn screening for severe combined immunodeficiency
Verbsky J, et al. J Allergy Clin Immunol 2012 Jan

Citizens' Values Regarding Research With Stored Samples From Newborn Screening in Canada
Bombard Y, et al. Pediatrics 2012 Jan

Genes and plays: bringing ELSI issues to life
Rothenberg KH & Bush LW Genet Med 2012 Jan

IRB perspectives on the return of individual results from genomic research
Dressler LG, et al. Genet Med 2012 Jan

Genetics researchers' and IRB professionals' attitudes toward genetic research review: a comparative analysis
Edwards KL, et al. Genet Med 2012 Jan

Impact of Literacy and Numeracy on Motivation for Behavior Change After Diabetes  Genetic Risk Testing
Vassy JL, et al. Med Decis Making 2012 Jan

Public Attitudes Regarding the Use of Residual Newborn Screening Specimens for Research
Botkin JR, et al.
Pediatrics 2012 Jan

Cold urticaria, immune deficiency and autoimmunity due to PLCG2 deletions
Ombrello MJ, Remmers EF, Sun G, et al. N Engl J Med. 2012 Jan 11.

Genetic mutation leads to cold allergy, immune deficiency and autoimmunity, Medical News Today, January 13

Germline mutations in HOXB13 and prostate-cancer risk.
Ewing CM, Ray AM, Lange EM, Zuhlke KA, et al. N Engl J Med. 2012 Jan 12;366(2):141-9.

Discovery of first major genetic mutation associated with hereditary prostate cancer risk, Medical News Today, January 13

Five Years of GWAS Discovery.
Visscher PM, Brown MA, McCarthy MI, et al. Am J Hum Genet. 2012 Jan 13;90(1):7-24.

New international research defends genome-wide association studies, Medical Press, January 13

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.
Zhang J, Ding L, Holmfeldt L, et al. Nature. 2012 Jan 11;481(7380):157-63.

Cancer sequencing project identifies potential approaches to combat aggressive leukemia, Science Daily, January 13

Molecular prediction for atherogenic risks across different cell types of leukocytes.
Cheng F, Keeley EC, Lee JK. BMC Med Genomics. 2012 Jan 13;5(1):2.

Finding the silent killer -- a biomarker test for atherosclerosis, EurekAlert, January 12

Comparison of DNA extraction methodologies used for assessing fungal diversity via ITS sequencing
Rittenour WR, Park JH, Cox-Ganser JM, Beezhold DH, Green BJ. J Environ Monit. 2012 Jan 9.

How can we stimulate translational research in cancer genomics beyond bench to bedside?
Schully SD, Benedicto CB, Khoury MJ.  Genet Med. 2012 Jan;14(1):169-70.

Single nucleotide polymorphism in the promoter region of the CD209 gene is associated with human predisposition to severe forms of tick-borne encephalitis
Barkhash AV, Perelygin AA, Babenko VN, Brinton MA, Voevoda MI. Antiviral Res. 2012 Jan;93(1):64-8.

Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing
Lehmann LS, et al. Genet Med 2012 Jan

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
Gahl WA, et al. Genet Med 2012 Jan;14(1):51-9

Challenge of evidence in individualized medicine, Medscape, January 17 [by free subscription only]

Moving clinical genomics beyond the hype, Genetic Engineering & Biotechnology News, January 15