Genomics & Health Impact Update
The Office of Public Health Genomics (OPHG) provides updated and credible information on how genomic information and family health history can improve health and influence policy and practice. We highlight news and information on the use of genomic tests and other applications, including family health history, in clinical and public health practice and programs, along with relevant data, policy, and legislation. We hope the update is informative to practitioners, policy makers, consumers, and researchers. Please send your comments to: firstname.lastname@example.org.
Thursday, August 18, 2011 Volume 27 Number 7
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism.
Hallmayer J, Cleveland S, Torres A, et al. Arch Gen Psychiatry. 2011 Jul 4.
- ‘Environment’ poses a knotty challenge in autism, The New York Times, August 8
- New funding opportunity, Ethical Legal and Social Implications (ELSI) of Genomic Research Regular Research Program
- 14th Annual NCHPEG Meeting, Strategies for Evidence-Based Education in Genetics will be September 26-27 in Bethesda, MD
- CDC Public Health Grand Rounds session Newborn Screening: Improving Outcomes held on August 18th. Materials available on website
- The Agency for Healthcare Research and Quality (AHRQ) Effective Health Care (EHC) Program has announced that a draft comparative effectiveness review: Fecal DNA Testing in Screening for Colorectal Cancer in Average Risk Adults is available and open for comment on EHC Web site until August 30, 2011.
- The AHRQ EHC Program has also announced that key questions for the comparative effectiveness review: Testing of CYP2C19 Variants and Platelet Reactivity for Guiding Antiplatelet Treatment are available and open for comment on the EHC Program Web site until August 23, 2011.
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
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
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
CDC authors are indicated in bold
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
Major Chinese study to probe genetics of high cholesterol, PHG Foundation, August 15
What drives some to get genetic test? The Gazette, August 14
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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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