Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update includes CDC announcements, publications, blogs and other products. The Update also includes links to genomics and health impact news and publications. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science. To receive this update electronically every week sign-up here.
Thursday, March 21, 2013 Volume 30 Number 12
Host Genomics and the Control of Infectious Diseases
- A special Issue of Public Health Genomics, March 2013: Genomics research: The underpinning of infectious disease prevention and control strategies
- Host genetic susceptibility to West Nile virus and dengue
- Host genetic susceptibility and the severity of respiratory illness caused by pandemic H1N1 influenza
- Host genetic susceptibility to variant Creutzfeldt-Jakob disease
- Public health genomics and the new molecular epidemiology of bacterial pathogens
- Host genomics and control of tuberculosis infection
- Host-pathogen genomic interaction in Chlamydia trachomatis infections & subfertility
- Whole genome sequencing in pre- and clinical vaccine research
- Search the HuGE Navigator for information on human genetic susceptibility to infectious agents.
- CDC paper: Trends in population-based studies of human genetics in infectious diseases. PLoS One
- New CDC blog post: Implementing evidence-based genomics recommendations at the intersection of public health and healthcare.
- Lynch Syndrome International: Provides support for individuals afflicted with Lynch syndrome, creates public awareness, educates the general public and health care professionals, and provides support research endeavors
- March events for Lynch Syndrome Hereditary Cancer Awareness Day, Lynch Syndrome International
- Lynch Syndrome Screening Network: Mission is to reduce the burden of colorectal cancer and other cancers associated with Lynch Syndrome
- CDC podcast on cascade screening for Lynch syndrome on all newly diagnosed cases of colorectal cancer
- CDC feature: Genetic testing for hereditary colorectal cancer
- Henry Lynch gives an update of Lynch Syndrome: In the quest for reducing its morbidity and mortality
- New recommendation from the EGAPP working group: Does genomic profiling to assess type 2 diabetes risk improve health outcomes? Genet Med advance online publication, Mar 14
- EGAPP review: Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review Glenn E. Palomaki et al. Genet Med advance online publication, Mar 14
- CDC fact sheet: Identifying opportunities for using genomic information and family history to improve health and transform healthcare [PDF 1.04 MB]
John Snow, Genomics & the Transformation of Epidemiology in the 21st Century
- Happy Birthday, Dr Snow Markel H, JAMA Mar 13
- John Snow – The first epidemiologist. PLoS Blogs By Atif Kukaswadia, Mar 11
- Transforming epidemiology for 21st century medicine and public health. Khoury MJ, et al. Cancer Epidemiol Biomarkers Prev. 2013 Mar
- Drivers of translational epidemiology in the 21st century: needs and opportunities.
Lam TK et al. Cancer Epidemiol Biomarkers Prev. 2013 Mar
- Human genome epidemiology: Building the evidence for using genetic information to improve health and prevent disease
- CDC blog post: Now watch this: genomic epidemiology
- Epidemic Intelligence Service: A unique 2-year post doctoral training program of service and on-the-job learning for health professionals interested in the practice of applied epidemiology.
World Tuberculosis Day, March 24
- World Health Organization: A lot of progress made against tuberculosis - 20m lives saved 1995-2011
- CDC information: World TB Day 2013
- Host genomics and control of tuberculosis infection
Diabetes Alert Day, March 26
- CDC feature: 'Our cultures are our source of health' Type 2 diabetes is a growing concern around the world. American Indian and Alaska Native adults are at increased risk to have diagnosed diabetes-find out more
- CDC information: Does diabetes run in your family? Take steps towards better health
- National Diabetes Education Program: Know your family health history- 4 questions
- CDC Information: Prediabetes- Am I at risk?
1 of every 3 U.S. adults have prediabetes. That is 79 million Americans aged 20 years or older. The vast majority of people living with prediabetes do not know they have it. Family history increases the risk for prediabetes.
- CDC information: Mortality from Alzheimer's disease in the United States: Data for 2000 and 2010, Mar 2013
- Mayo Clinic: Alzheimer's genes: Are you at risk? Several genes have been associated with Alzheimer's disease, but more research is needed.
Did you know that 1517 genes have been reported in relation to risk of Alzheimer’s disease. The most well known gene related to Alzheimer’s disease is APOE. To find out momre, visit the HuGE Navigator
- 2013 Joint Summits on Translational Science (Translational Bioinformatics & Clinical Research Informatics), San Francisco California Mar 18-22, 2013
- American College of Medical Genetics and Genomics, 2013 Annual Clinical Genetics Meeting, Mar 19-23, 2013
- 2013 Health Disparities and Genomic Medicine Conference: Why we can’t wait: Conference to eliminate health disparities in genomic medicine, May 29-31, 2013, San Francisco
- Shaping the Future of Personalized Medicine-TEDMED Video-Roundtable, Virtual Event Mar 2013
Analysis of circulating tumor DNA to monitor metastatic breast cancer.
Dawson SJ, Tsui DW, Murtaza M, et al. N Engl J Med. 2013 Mar 13.
- Blood test tracks cancer, Nature News, Mar 13
Evaluation of mammographic surveillance services in women aged 40-49 years with a moderate family history of breast cancer: a single-arm cohort study
Duffy S, et al. Health Technol Assess 2013 Mar;17(11):1-95
Factors affecting the decision to undergo risk-reducing salpingo-oophorectomy among women with BRCA gene mutation
Kim D, et al. Fam Cancer 2013 Mar
Genomic subtypes in choosing adjuvant therapy for breast cancer
Amelia B. Zelnak, Ruth M. O'Regan Cancer Network Mar 11
Interest of individuals from BRCA families to participate in research studies focused on male BRCA carriers
Pal T, et al. Fam Cancer 2013 Mar
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
de Juan Jiménez I, García Casado Z, Palanca Suela S, et al. Fam Cancer. 2013 Mar 12
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations
Heng Xu, Wenjian Yang, Virginia Perez-Andreu, et al. Journal of the National Cancer Institute Mar 19
- Inherited genetic variations have a major impact on childhood leukemia risk, Science Daily, Mar 19
Proven non-carriers in BRCA families have an earlier age of onset of breast cancer
Vos JR, et al. Eur J Cancer 2013 Mar
Risk of breast cancer in Lynch syndrome: a systematic review
Aung Ko Win, Noralane M Lindor and Mark A Jenkins Breast Cancer Research 2013, 15:R27
Ethics & Law
- Privacy and progress inspires California genetic information privacy bill by Nicolle Strand, Presidential Commission for the Study of Bioethical Issues Mar 12th
- Familial risk of small intestinal carcinoid and adenocarcinoma.
Kharazmi E, et al. Clin Gastroenterol Hepatol. 2013 Mar 14.
- First-degree relatives of patients with rheumatoid arthritis exhibit high prevalence of joint symptoms
Smolik I, et al. J Rheumatol 2013 Mar
Genomics in Practice
CDC expert commentary podcast: Screening newborns for critical congenital heart disease
Matt Oster, MD, MPH, Mar 18, 2013
Genetics in primary care resource: from the Genetics and Primary Care Institute
Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments
Severin F, et al. Eur J Hum Genet 2013 Mar
Personal genome testing in medical education: student experiences with genotyping in the classroom.
Vernez S et al. Genome Medicine Mar 19
RET gene abnormalities and thyroid disease: Who should be screened and when
Salehian B & Samoa R J Clin Res Pediatr Endocrinol 2013 Mar;5 Suppl 1:70-8
Clinical utility gene card for: Achromatopsia - update 2013
Kohl S & Hamel C Eur J Hum Genet 2013 Mar
Guidelines and Recommendations
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [PDF 342.83 KB]
Robert C. Green, Jonathan S. Berg, Wayne W. Grody, et al. ACMG
- ACMG releases highly-anticipated recommendations on incidental findings in clinical exome and genome sequencing, [PDF 345.83 KB] ACMG, Mar 21
Patients should learn about secondary genetic risk factors, say sequencing lab recommendations, by Brendan Maher, Nature News Blog, Mar 21
Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants
Hicks JK, et al. Clin Pharmacol Ther 2013 Jan
- New guidelines for paediatric genetics
Louisa Flintoft Nature Reviews Genetics, 2013;14:241
Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience
Gonzalez EC, et al. Clin Chim Acta 2013 Feb
Public Health Sciences
Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study
Esplen MJ, et al. BMJ Open 2013;3(3)
Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve
Cizmeli C, et al. Fertil Steril 2013 Mar
Personalized medicine: Genetic diagnosis for inherited cardiomyopathies/channelopathies
Ackerman MJ, et al. Rev Esp Cardiol 2013 Feb
The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from
Cruz Marino T, et al. Clin Genet 2013 Mar
Reviews and Commentaries on Science & Technology
- Blood test tracks cancer. Monitoring tumor DNA shows promise for following progress of disease.
Heidi Ledford. Nature News, Mar 13
- E unus pluribum (out of one person, many genomes):
Naomi Attar, Genome Biology, Mar 14
- What it takes to be a bioinformatician. By C Rizk, New York Genome Center, Mar 14
- Genetics & nutrition: Does every healthy diet work for you?
Elena Marquina, Saludify, Mar 1
- The cell biology of genomes: Bringing the double helix to life [PDF 278.13KB]
Tom Misteli, Cell, Mar 14
- Animated view of DNA, BBC Video, Mar 15
- “10” predictions for the future of your (microbial) health. By Rob Dunn, Scientific American Blog, Mar19
Gene-analysis firms reach for the cloud. Online bioinformatics companies rush to provide genomics platforms and software for hospitals. Erika Check Hayden. Nature News, Mar19
Tools and Databases
PhenoDB: A new web-based tool for the collection, storage, and analysis of phenotypic features
Ada Hamosh, Nara Sobreira, Julie Hoover-FongHuman, et al. Mutation 2013 Mar 4
- New database to speed genetic discoveries, Medical Xpress, Mar 18
- Smartphone app to find cancer mutations, PHG Foundation, Mar 18
- The rare disease search engine that outperforms Google- A new search engine designed to help diagnose rare diseases could prove a boon for both medics and the public, MIT Tech Review, Mar 18
- New disease registry gives patients some privacy, By Courtney Humphries, Review MIT Tec, Mar 14
- PhenGenI: The Phenotype-Genotype Integrator (PheGenI), merges NHGRI genome-wide association study (GWAS) catalog data with several databases housed at the National Center for Biotechnology Information
- AERSMine is a web application for mining data contained in the FDA adverse event reporting system. By correlation of adverse reactions with known drug-phenotype-gene relationships, we may improve our ability to modify therapeutic strategies and improve therapeutic efficacy.
One stop shopping for all diseases: Genetic Alliance launches disease InfoSearch, Genetic Alliance, Mar 19
CDC authors are indicated in bold
Detection of the A2058G and A2059G 23S rRNA gene point mutations associated with azithromycin resistance in Treponema pallidum by use of a TaqMan real-time multiplex PCR assay
Chen CY, Chi KH, Pillay A, Nachamkin E, Su JR, Ballard RC. J Clin Microbiol. 2013 Mar;51(3):908-13.
Impact of minority nonnucleoside reverse transcriptase inhibitor resistance mutations on resistance genotype after virologic failure
Li JZ, Paredes R, Ribaudo HJ, Kozal MJ, Svarovskaia ES, Johnson JA, Geretti AM, Metzner KJ, Jakobsen MR, Hullsiek KH, Ostergaard L, Miller MD, Kuritzkes DR. J Infect Dis. 2013 Mar;207(6):893-7.
Genetic variation and exchange in Trypanosoma cruzi isolates from the United States
Roellig DM, Savage MY, Fujita AW, Barnabe C, Tibayrenc M, Steurer FJ, Yabsley MJ. PLoS One. 2013 ;8(2):e56198.
Hepatitis E virus isolated from rabbits is genetically heterogeneous but with very similar antigenicity to human HEV
Wang S, Dong C, Dai X, Cheng X, Liang J, Dong M, Purdy MA, Meng J. J Med Virol. 2013 Apr;85(4):627-35.
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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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