Genomics & Health Impact Update

Clinical utility gene card for: Alveolar rhabdomyosarcoma
Yu Z, et al. Eur J Hum Genet 2011 Aug

Newborn screening for homocystinuria
Walter JH, et al. Cochrane Database Syst Rev 2011(8):CD008840

Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members.
Guideline Summary, National Guideline Clearinghouse

Reading Between the Lines: A Comparison of Responders and Non-responders to a Family History Questionnaire and Implications for Cancer Genetic Counselling
Appleby-Tagoe JH, et al. J Genet Couns 2011 Aug

Sources of Uncertainty About Daughters' Breast Cancer Risk that Emerge During Genetic Counseling Consultations
Bylund CL, et al. J Genet Couns 2011 Aug

What's at stake? Genetic information from the perspective of people with epilepsy and their family members
Shostak S, et al. Soc Sci Med 2011 Jul

Barriers to and Motivations for Physician Referral of Patients to Cancer Genetics Clinics
Prochniak CF, et al. J Genet Couns 2011 Aug

Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel
Lieberman S, et al. Am J Med Genet A 2011 Aug

Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling
Wang G, et al. Genet Med 2011 Aug

Newborn screening and maternal diagnosis: Rethinking family benefit
Buchbinder M & Timmermans S Soc Sci Med 2011 Jul

Parental views on informed consent for expanded newborn screening
Moody L & Choudhry K Health Expect 2011 Aug

New effective and significantly less costly process may save lives of Lynch Syndrome patients, Medical News Today, August 17

ACMG announces new online live learning center: Will bring genetics and genomics education to varied health professionals, PR Newswire, August 11

Child-Parent Screening for Familial Hypercholesterolemia.
Wald DS, Kasturiratne A, Godoy A, et al. J Pediatr. 2011 Jul 26.

Childhood screening for high cholesterol is feasible, PHG Foundation, August 11

Draft Guidance for Industry and Food and Drug Administration Staff - Factors to Consider when Making Benefit-Risk Determinations in Medical Device Premarket Review, FDA, August 15

FDA releases draft guidances on medical devices and biomarkers, Genome Web, August 15 [by free subscription only]

FDA approves Zelboraf and companion diagnostic test for late-stage skin cancer, FDA News, August 17

FDA approves Roche's Companion Dx and drug for melanoma, Genome Web, August 17 [by free subscription only]

GPPC releases updated list of DTC genetic testing companies, Genetics & Public Policy Center, August 11

Awareness of Direct-to-Consumer Genetic Tests and Use of Genetic Tests Among Puerto Rican Adults, 2009
Ortiz AP, et al. Prev Chronic Dis 2011 Sep;8(5):A110

Population Composition, Public Policy, and the Genetics of Smoking
Boardman JD, et al. Demography 2011 Aug

Relationship Between CYP2A6 and CHRNA5-CHRNA3-CHRNB4 Variation and Smoking Behaviors and Lung Cancer Risk
Wassenaar C, Dong Q, Wei Q, et al. Journal of the National Cancer Institute. 2011 July 11

Gene combination increases risk of lung cancer, particularly in light smokers, CAMH study finds, EurekAlert, August 17

Genetic Variants in the LEPR, CRY1, RNASEL, IL4, and ARVCF Genes Are Prognostic Markers of Prostate Cancer-Specific Mortality
Lin D, FitzGerald L, Fu R, et al. Biomarkers Prev, August 16

Five inherited genetic variants linked to the most lethal prostate cancers, Science Daily, August 16

Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5'UTR.
Hitchins MP, Rapkins RW, Kwok CT, et al. Cancer Cell. 2011 Aug 16;20(2):200-13.

Hereditary cancer risk, The University of New South Wales, August 16

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
Amr Al-Saif, Futwan Al-Mohanna and Saeed Bohlega. Annals of Neurology; Published Online: August 12, 2011

Mutation in SIGMAR1 gene linked to juvenile ALS identified, Medical News Today, August 15

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, Sawcer S, et al. Nature. 2011 Aug 10;476(7359):214-9.

Immune system genes implicated in multiple sclerosis, PHG Foundation, August 12

Assessing causal relationships in genomics: from Bradford-Hill criteria to complex gene-environment interactions and directed acyclic graphs
Geneletti S, Gallo V, Porta M, Khoury MJ, Vineis P. Emerg Themes Epidemiol. 2011 ;8(1):5.

Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies
Schully SD, Yu W, McCallum V, Benedicto CB, Dong LM, Wulf A, Clyne M, Khoury MJ. Eur J Hum Genet. 2011 Aug;19(8):928-30.

Hexamethylene diisocyanate asthma is associated with genetic polymorphisms of CD14, IL-13, and IL-4 receptor alpha
Bernstein DI, Kissling GE, Khurana Hershey G, Yucesoy B, Johnson VJ, Cartier A, Gautrin D, Sastre J, Boulet LP, Malo JL, Quirce S, Tarlo SM, Langmeyer S, Luster MI, Lummus ZL. J Allergy Clin Immunol. 2011 Aug;128(2):418-20.

Multi-walled carbon nanotube-induced gene expression in the mouse lung: association with lung pathology
Pacurari M, Qian Y, Porter DW, Wolfarth M, Wan Y, Luo D, Ding M, Castranova V, Guo NL. Toxicol Appl Pharmacol. 2011 Aug 15;255(1):18-31.

Direct-to-Consumer Personalized Genomic Testing
Bloss CS, et al. Hum Mol Genet 2011 Aug

The Next PAGE in Understanding Complex Traits: Design for the Analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study
Matise TC, et al. Am J Epidemiol 2011 Aug

Database finds new uses for old drugs, Science Now, August 17

eMERGE network moves closer to tailored treatments based on patients’ genomic information, NIH News, August 17

Major Chinese study to probe genetics of high cholesterol, PHG Foundation, August 15

What drives some to get genetic test? The Gazette, August 14