Genomics & Health Impact Update
Volume 31 Number 19 November 14 - 21, 2013About the Update
Contents of the week
- Diabetes & Family History
- Age-Related Macular Degeneration
- Genomic Screening
- Gather & Share Your Family Health History
- Pneumonia, Genomics & Public Health
- Genomics & Child Health
- Vaccine Safety & Efficacy in the Genomics Era
- Chronic Kidney Disease
Be Empowered Webinar: The “New” Genetic Testing: What You Need to Know
November 18 ~ Webinar
2013 New Developments with Primary Immunodeficiency Disorders
November 22 ~ Los Angeles, CA
CDC Grand Rounds: Advanced Molecular Detection
December 3, 2013 at 1pm. ~ Webinar
NIH funding announcement: Analysis of genome-wide gene-environment (G x E) interactions
NIH to commit $7.5m for alcoholism risk genetics project, Genome Web, Nov 12 [by free subscription only]
Institute of Medicine: Genome-based diagnostics: Demonstrating clinical utility in oncology - Workshop summary, Nov 8
Lynch syndrome presenting as endometrial cancer
Laura J. Tafe et al. Clinical Chemistry, Nov 2013
Preventing ovarian cancer through genetic testing: a population-based study
Finch A, et al. Clin Genet 2013 Nov
Public opinion on policy issues in genetics and genomics.
Rene Almeling, Genetics in Medicine, Nov 7
US public's views on genomics policy issues, PHG Foundation, Nov 13
Clinical and ethical impact of CRISPR genome engineering, PHG Foundation, Nov 13
Informal request for public comment: "Direct-to-consumer" genetic testing, Department of Health and Mental Hygiene, Maryland
Colorectal cancer among first-degree relatives of individuals with adenomas: The Risk is elevated, but now what?
Gupta S, Martinez E, Madlensky L. Cancer. 2013 Oct
Effect of a detailed family history of melanoma on risks of other tumors: A cohort study based on the nationwide Swedish family-cancer database
Chen T, et al. J Invest Dermatol 2013 Nov
Physician’s guide to hereditary angioedema : HAE is an autosomal dominant disease characterized by painful, unpredictable, recurrent attacks of inflammation affecting the hands, feet, face, abdomen, urogenital tract, and the larynx- from the National Organization for Rare Disorders
Familial hypercholesterolemia: An under-recognized but significant concern in cardiology practice.
Foody JM. Clin Cardiol. 2013 Nov 5.
Tailoring genetic/genomic services and information to the individual
Clancy T & Morgan R Nurs Stand 2013 Nov;28(10):37-43
A randomized trial of the clinical utility of genetic testing for obesity: Design and implementation considerations
Wang C, et al. Clin Trials 2013 Nov
2013 ACC/AHA Guideline on the assessment of cardiovascular risk: A report of the American College of Cardiology/American Heart Association Task Force on practice guidelines
Goff D, et al. Circulation 2013 Nov 12
2013 ACC/AHA Guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: A report of the American College of Cardiology/American Heart Association Task Force on practice guidelines
Stone N, et al. Circulation 2013 Nov 12
Clinical practice guideline: CYP2D6 genotyping for safe and efficacious codeine therapy
Madadi P, et al. J Popul Ther Clin Pharmacol 2013;20(3):e369-e396
Infectious Disease Society of America (IDSA) Better tests needed to improve patient care, public health, Technology Advancing but Barriers Prevent Integration into Care, IDSA Report, Nov 7
Canadian guideline on genetic screening for hereditary renal cell cancers.
M. Neil Reaume, et al. Canadian Urological Association Journal 2013
After the introduction into the national newborn screening program: Who is receiving genetic counseling for hemoglobinopathies in the Netherlands
Kaufmann JO, et al. Public Health Genomics 2013 Nov
Array CGH as a first-tier test for neonates with congenital heart disease
Bachman KK, et al. Cardiol Young 2013 Nov:1-8
Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: Implementation of a protocol to identify only the disease states of sickle cell disease.
Moat SJ, et al. Clin Chem. 2013 Oct 24.
Wales adopts mass spec-based methodology for newborn sickle cell screening, Genome Web, Nov 8 [by free subscription only]
NFL Hall of Famer is passionate about newborn screening, APHL Public Health Lab Log, Nov 12
Pharmacogenetic tests yield bonus benefit: better drug adherence, by Elie Dolgin, Nature Medicine News, Nov 7
Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Jeanette Erdmann et al. Nature, Nov 10
Major depressive disorder and accelerated cellular aging: results from a large psychiatric cohort study
Verhoeven J, et al. Molecular Psychiatry 2013 Nov 12
Perceptions of African-American health professionals and community members on the participation of children and pregnant women in genetic research
Ngui EM, et al. Public Health Genomics 2013 Nov
Prediction of age-related macular degeneration in the general population: The three continent AMD consortium.
Buitendijk GH et al. Ophtalmology, October 2013
Pregnancy complications and obstetric care in women with inherited bleeding disorder
Kadir RA, et al Haemophilia. 2013 Nov;19 Suppl 4:1-10.
The National Children's Study — A proposed plan
Guttmacher A, et al. N Engl J Med 2013; 369:1873-1875 2013 Nov 14
Telltale hearts. Each year, tens of thousands of young people worldwide die suddenly after their hearts stop beating for no apparent reason. Genetic testing for inherited heart rhythm disorders AKA 'molecular autopsies' are rarely performed.
Jeanne Erdmann. Nature Medicine, Nov 8
Extensive variation in chromatin states across humans
Maya Kasowski et al, Science, Nov 8
Genetics driving epigenetics.
Terrence S. Furey et al. Science, Nov 8
Genome-wide consequences of deleting any single gene
Teng X, et al. Molecular Cell, 2013 Nov 7
The vicious cycle of under-valued cancer biomarkers. Could sweeping changes bring more tests into clinical practice?
Genna Rollins, American Association for Clinical Chemistry, Nov 2013
Blog post: One person, many genomes, by Tom Insel, NIMH Director, Nov 2013
NextCODE Health Mines deCODE's data, and more, to catalyze clinical diagnosis, by Ricki Lewis, DNA Science Blog, Nov 14
When causal disease alleles don't cause disease (or is that the norm?) By Anne Buchanan, The Mermaid's Tale, Nov 13
Can genomics blow up the clinical trial? Technology Review, Nov 12
How much bioinformatics does the new biologist need? By Ayanna Monteverdi, mendelspod, Nov 11
Weak statistical standards implicated in scientific irreproducibility- One-quarter of studies that meet commonly used statistical cutoff may be false. Erika Check Hayden, Nature News , Nov 11
Documentary: Exosomes – the next small thing, by Alexey Bersenev, Nov 9
Receptive to replication: Do replication studies belong in top-tier journals? Nature Biotechnology, Nov 8
Heterogeneity in cancer genomics, Ewan’s Blog, Nov 7
DriverDB: an exome sequencing database for cancer driver gene identification
Cheng WC, et al. Nucleic Acids Res 2013 Nov
CDC authors are indicated in bold
Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions.
Mueller PW, Lyons J, Kerr G, Haase CP, Isett RB. Genet Med. 2013 Nov;15(11):910-1.
Hepatitis A virus: Host interactions, molecular epidemiology and evolution.
Vaughan G, Goncalves Rossi LM, Forbi JC, de Paula VS, Purdy MA, Xia G, Khudyakov YE. Infect Genet Evol. 2013 Nov 5.
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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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