Genomics & Health Impact Update

Clinical utility gene card for: Abetalipoproteinaemia
Burnett JR, et al. Eur J Hum Genet 2012 Feb

Clinical utility gene card for: Biotinidase deficiency
Kury S, et al. Eur J Hum Genet 2012 Feb

Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a  challenge for clinical implementation
Ong FS, et al. Pharmacogenomics 2012 Mar;13(4):465-75

Recommendations for Genetic Testing of Inherited Eye Diseases
American Academy of Ophthalmology Feb 2012

Direct to Consumer Genetic Testing: a systematic review of position statements, policies and recommendations.
Skirton H, Goldsmith L, Jackson L, et al. Clin Genet. 2012 Feb 28.

USPSTF posts Draft Research Plan on BRCA Mutation Risk Assessment and Testing for public comment

Adequacy of family history taking in ovarian cancer patients: a population-based  study
van Altena AM, et al. Fam Cancer 2012 Mar

Three sisters face breast cancer together, Health Today, March 3

How has genetic testing changed treatment approaches for patients with lung cancer?
Tyson LB ONS Connect 2012 Feb;27(2):15

Information-Sharing to Promote Informed Choice in Prenatal Screening in the Spirit of the SOGC Clinical Practice Guideline: A Proposal for an Alternative Model
Vanstone M, et al. J Obstet Gynaecol Can 2012 Mar;34(3):269-75

Translation of pharmacogenetics to clinical practice: what will it take?
Slaughter RL Expert Rev Clin Pharmacol 2012 Mar;5(2):101-3

Do Physicians Understand Cancer Screening Statistics? A National Survey of Primary Care Physicians in the United States
Wegwarth O, Schwartz L, Woloshin S, et al Annals of Internal Medicine 2012; 156(5);340-349

What We Don't Know Can Hurt Our Patients: Physician Innumeracy and Overuse of Screening Tests
Moyer V Annals of Internal Medicine 2012; 156(5);392-393

Cancer screening data often misunderstood by doctors, Medscape, March 5

THE PHG Foundation launches Health Needs Assessment Toolkit for Congenital Disorders

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
Gerlinger M, Rowan A, Horswell S, et al. N Engl J Med 2012;366:883-892

Tumor Heterogeneity and Personalized Medicine
Dan L. Longo, M.D. N Engl J Med 2012; 366:956-957 2012 Mar

Genetic Influences on Developmental Smoking Trajectories
Lessov-Schlaggar CN, et al. Addiction 2012 Mar

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes
Shields BM, et al. Diabetologia 2012 Mar

To test, or not to test: time for a MODY calculator?
Njolstad PR & Molven A Diabetologia 2012 Mar

A more rapid approach to systematically assessing published associations of genetic polymorphisms and disease risk: type 2 diabetes as a test case
Cho AH, Jiang X, Mann DM, Kawamoto K, Robinson TJ, Wang N, McCarthy JJ, Woodward M, Ginsburg GS, Comparative Effectiveness Research, January 2012;2:1 – 20

Acute Exercise Remodels Promoter Methylation in Human Skeletal Muscle
Barrès R, Yan J, Egan B, et al. Cell Metabolism 2012, 15(3);405-411

Exercise changes your DNA, Medical Press, March 6

Common Variants in the CD36 Gene Are Associated With Oral Fat Perception, Fat Preferences, and Obesity in African Americans.
Keller KL, Liang LC, Sakimura J, et al. Obesity (Silver Spring). 2012 Jan 12.

Perception and preference may have genetic link to obesity, Science Daily, March 5

A distinct lineage of influenza A virus from bats
Tong S, Li Y, Rivailler P, Conrardy C, Castillo DA, Chen LM, Recuenco S, Ellison JA, Davis CT, York IA, Turmelle AS, Moran D, Rogers S, Shi M, Tao Y, Weil MR, Tang K, Rowe LA, Sammons S, Xu X, Frace M, Lindblade KA, Cox NJ, Anderson LJ, Rupprecht CE, Donis RO.
Proc Natl Acad Sci U S A. 2012 Feb 27.
Matern Child Health J. 2012 Feb;16(2):486-94.

A real-time PCR assay for HPV52 detection and viral load quantification
Onyekwuluje JM, Steinau M, Swan DC, Unger ER.
Clin Lab. 2012 ;58(1-2):61-6.

Atypical Listeria monocytogenes serotype 4b strains harboring a lineage II-specific gene cassette
Lee S, Ward TJ, Graves LM, Wolf LA, Sperry K, Siletzky RM, Kathariou S.
Appl Environ Microbiol. 2012 Feb;78(3):660-7.

Development of a novel genus-specific real-time PCR assay for detection and differentiation of Bartonella species and genotypes
Diaz MH, Bai Y, Malania L, Winchell JM, Kosoy MY.
J Clin Microbiol. 2012 Feb 29.

Novel genetic variation identified at fixed loci in ORF62 of the Oka varicella vaccine and in a case of vaccine-associated herpes zoster
Quinlivan ML, Jensen NJ, Radford KW, Schmid DS.
J Clin Microbiol. 2012 Feb 29.

Market watch: Industry perspectives on personalized medicine
Zuckerman R & Milne CP Nat Rev Drug Discov 2012;11(3):178

Putting genome analysis to good use: Lessons from C-reactive protein and cardiovascular disease
Manace LC & Babyatsky MW Cleve Clin J Med 2012 Mar;79(3):182-91.

What do our patients think personalized medicine means? The answer may surprise you
Wujcik DM ONS Connect 2012 Feb;27(2):7

The great beyond
Nature. 2012 Feb 29;483(7387):5-6.

Rare diseases: Genomics, plain and simple, Nature News, February 29

Who should hold the keys to your DNA? CMAJ News, March 6

Will PCORI's patient-centered comparative effectiveness research track with personalized Rx? Genome Web, March 2

Combing the cancer genome, The Scientist, March 1