Genomics & Health Impact Update:

Volume 30   Number 16   April 18-25, 2013

Spotlight

Advanced Molecular Detection: Pathogen Genomics & Bioinformatics

• CDC information: Advanced Molecular Detection (AMD) and response to infectious disease outbreaks
• CDC video: Director’s briefing on advanced molecular detection
• CDC information:  A new landscape for combatting infectious diseases [PDF 693.38 KB]
• CDC information: 10 years ago CDC published a sequence of the virus believed to be responsible for the global SARS  epidemic.
• Host Genomics; Underpinning of Infectious Disease Control, Special issue of Public Health Genomics, March 2013:
  • Host genetic susceptibility and the severity of respiratory illness caused by pandemic H1N1 influenza
  • Public health genomics and the new molecular epidemiology of bacterial pathogens
  • Host genomics and control of tuberculosis infection
• Search the HuGE Navigator for information on human genetic susceptibility to infectious agents.

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Features of the Week

10th anniversary of Human Genome Project: April 25 is National DNA Day

• CDC information: April 25 is National DNA Day: Celebrate the 10th anniversary of the completion of the Human Genome Project

• CDC blog post: Walking before running: Genomic medicine 10 years after the Human Genome Project

• The genomics landscape a decade after the Human Genome Project, NHGRI

• NHGRI's Green surveys genomic landscape a decade after human genome release, Genome Web, Apr 15 [by free subscription only]

• NHGRI celebrates 10th anniversary of the Human Genome Project, NHGRI, Apr 12

• A conversation with Eric Green about the human genome, then & now,  The New York Times, Apr 15
• DNA sequencing celebrates its first decade, NPR News Apr 12

• NIH symposium: The genomics landscape a decade after the Human Genome Project, April 25, 2013

• Smithsonian Genome Exhibition

The Human Genome Epidemiology Navigator

• An online continuously updated, curated database of epidemiologic studies of human genetic variation in relation to human diseases. As of April 10, the database exceeded 80,000 articles. Search the HuGE Navigator by disease, gene, type of study (GWAS, candidate genes, meta analysis), exposure, year, author and much more
• CDC article: A navigator for human genome epidemiology.
  Yu Wei al, Nat Genet 2008
• CDC article: Genetic Epidemiology with a capital E: Ten Years After.
  Khoury MJ. et al. Genet epidemiol 2011

April is Minority Health Month

• CDC celebrates Minority Health Month
• Upcoming event: Why we can't wait: Conference to eliminate health disparities in genomic medicine, May 29-31 ~ San Francisco, CA
• Underutilization of BRCA1/2 testing in breast cancer: black & hispanic women particularly at risk, Genet Med Study
• Looking to the future: incorporating genomic information into disparities research,
  Shields AE, Crown WH. Health Serv Res review

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Diseases of the Week

April is Autism Awareness Month

• CDC feature: Autism Spectrum Disorders: One family's story
• CDC announcement: Autism Awareness Month and World Autism Day, April 2013 MMWR March 29, 2013 / 62(12);232
• CDC information: Autism spectrum disorders: test your knowledge
• CDC’S SEED is the largest study in US looking at what puts kids at risk for autism, including genetic factors
• CDC information: Genomics and health: Autism and family history
• From the HuGE Navigator: 431 genes have been reported with autism, including 10 genomewide association studies

World Hemophilia Day

• CDC information: Hemophilia World Day was April 17: Test your knowledge 
• CDC Information: What should you know? Hemophilia is an inherited bleeding disorder in which the blood does not clot properly
• CDC information: Hemophilia Treatment Center directory
• National Hemophilia Foundation: Testing carrier factor levels in women- Discovering whether your genes carry a bleeding disorder
• Hemophilia in social media-Collection of hemophilia related blogs, podcasts, slideshows, mobile applications and community sites-From Webicina
• Hemophilia Federation of America annual symposium April 25-27

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Select Events

• NIH Symposium: The Genomics Landscape a Decade after the Human Genome Project, April 25, 2013
• Third National Conference on Genetics, Ethics and the Law, University of Virginia, Charlottesville, Virginia May 22-23, 2013
• Translational Research in Genomic Medicine, Emory University, Atlanta, Georgia, August 15-16, 2013
  A 2-day multi-disciplinary course on establishing the validity and utility of genomic applications in clinical and preventive medicine.

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Reports and Publications

Cancer

• A colorectal cancer classification system that associates cellular phenotype and responses to therapy
  Anguraj Sadanandam, et al. Nature Medicine, 2013 Apr 14

• Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer
  Xing M, et al. JAMA 2013 Apr;309(14):1493-501

  • Molecular testing in thyroid cancer: BRAF mutation status and mortality
    Cappola AR & Mandel SJ JAMA 2013 Apr;309(14):1529-30
  • No need for genetic testing for most thyroid cancers, Medscape, Apr 11 [by free subscription only]

• Behavioral and psychosocial responses to genomic testing for colorectal cancer risk
  Graves KD, et al. Genomics 2013 Apr

• Breast cancer patients' views on the use of genomic testing to guide decisions about their postoperative chemotherapy
  Seror V, et al. Public Health Genomics 2013 Apr

• Designing transformative clinical trials in the cancer genome era
  Sleijfer S, et al. J Clin Oncol 2013 Apr

• Determination of molecular markers for BRCA1 and BRCA2 heterozygosity using gene expression profiling.
  Salmon AY, Salmon-Divon M, Zahavi T, et al. Cancer Prev Res (Phila). 2013 Feb;6(2):82-90.

  • New test predicts BRCA1 and BRCA2 mutations
    Mayor S Lancet Oncol 2013 Mar;14(3):e90

• Development and validation of a 32-gene prognostic index for prostate cancer progression
  Wu C, Schroeder B, Ma X, et al. PNAS Early Edition 2013

  • Gene-expression signature may signify risk for recurrence, metastasis in prostate cancer, EurekAlert, Apr 15

• Is the 21-gene recurrence score a cost-effective assay in endocrine-sensitive node-negative breast cancer?
  Lamond NW, et al. Expert Rev Pharmacoecon Outcomes Res 2013 Apr;13(2):243-50

• Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies
  Helfand B, Loeb S, Hu Q, et al. The Journal of Urology 189(5):1697-1701

  • Personalizing prostate specific antigen testing may improve specificity, reduce biopsies, Science Daily, Apr 15

• Results of the first Italian external quality assurance scheme for somatic EGFR mutation testing in non-small-cell lung cancer
  Normanno N, et al. J Thorac Oncol 2013 Apr

• Self administered screening for hereditary cancers in conjunction with mammography and ultrasound.
  McDonnell CH, Seidenwurm DJ, McDonnell DE, Bobolis KA. Fam Cancer. 2013 Apr 13.

• Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis
  Heemskerk-Gerritsen BA, et al. Ann Oncol 2013 Apr

• Which screening strategy should be offered to women with BRCA1 or BRCA2 mutations? A simulation of comparative cost-effectiveness
  de Bock GH, et al. Br J Cancer 2013 Apr

Ethics, Policy & Law

• Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology
  Lolkema MP, et al. J Clin Oncol 2013 Apr

• Genetic susceptibility testing for neurodegenerative diseases: Ethical and practice issues
  Roberts JS & Uhlmann WR Prog Neurobiol 2013 Apr

• NCI think tank concerning the identifiability of biospecimens and “omic” data
  Carol J. Weil et al. Genetics in Medicine, Apr 11

• The disclosure of incidental genomic findings: an "ethically important moment" in pediatric research and practice
  Driessnack M, et al. J Community Genet 2013 Apr

• US Supreme Court considers arguments on gene patents, PHG Foundation, Apr 17
• 4 ways the gene patent ruling affects you, Rachael Rettner, MyHealthNewsDaily, Apr 16

• US Supreme Court hears arguments for, against gene patents, Genome Web, Apr 15 [by free subscription only]

• Justices seem wary of bold action in gene patent case, The New York Times, Apr 15 [by free subscription only]

• Supreme Court asks: Can human genes be patented? National Public Radio, Apr 15
• Can they patent your genes? Daniel J. Kevles, New York Review of Books, March 7
• Human gene patentability case heads to Supreme Court,  Reuters, Apr 14

Family History

• Comparing electronic health record portals to obtain patient-entered family health history in primary care
  Murray MF, et al. J Gen Intern Med 2013 Apr

Genomics in Practice

• Applications of CYP450 testing in the clinical setting
  Samer CF, et al. Mol Diagn Ther 2013 Apr

• Cost effectiveness of targeted high-dose atorvastatin therapy following genotype testing in patients with acute coronary syndrome
  Parthan A, et al. Pharmacoeconomics 2013 Apr

• JAMA patient page. Genomic medicine
  Goodman DM, et al. JAMA 2013 Apr;309(14):1544

• SCN1A testing for epilepsy: Application in clinical practice
  Hirose S, et al. Epilepsia 2013 Apr

Guidelines and Recommendations

• The U.S. Preventive Services Task Force (USPSTF) draft  recommendation that clinicians engage in shared decisionmaking with women at increased risk of breast cancer regarding medications to reduce their risk (April, 2013)

Newborn Screening

• Newborn screening saves a future NBA star, APHL, Apr 18

Prenatal Screening

• Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to beta-thalassaemia
  Papasavva T, et al. Eur J Hum Genet 2013 Apr

Public Health Sciences

• Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
  Wheeler E, Huang N, Bochukova E, et al. Nature Genetics 2013 Apr 7

  • Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
    Bernt S, Gustafsson S, Maegi R, et al. Nature Genetics 2013 Apr 7
  • Two genome-wide studies identify new links to obesity, PHG Foundation, Apr 15

• Long QT syndrome-associated mutations in intrauterine fetal death
  Crotti L, et al. JAMA 2013 Apr;309(14):1473-82

  • Long QT syndrome susceptibility mutations and pregnancy loss: another piece of a  still unfinished puzzle?
    Guttmacher AE, et al. JAMA 2013 Apr;309(14):1525-6

• Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E 4,and  the risk of late-onset Alzheimer disease in African Americans
  Reitz C, et al. JAMA 2013 Apr;309(14):1483-92

  • Genome-wide association studies, Alzheimer disease, and understudied populations
    Nussbaum RL JAMA 2013 Apr;309(14):1527-8

Reviews and Commentaries on Science & Technology

• The coming age of data-driven medicine: translational bioinformatics’ next frontier
  Nigam H Shah, Jessica D Tenenbaum  JAMIA  Apr 11
• Data science: The numbers of our lives- “the sexiest job in the 21st century” By Claire Cain Miller. New York Times,  Apr 11 
• Drilling into big cancer-genome data. Vivien Marx, Nature Methods, Mar 28 
• A developing world strategy for personalized medicines. Huffington Post,  Apr 4
• DNA testing: Crack open your genetic code Lee AC, CNN, Apr 11
• Friction over function: Scientists clash on the meaning of ENCODE’s genetic data. Diep F, Scientific American, Apr12 
• DNA pioneer Francis Crick letter sells for $5.3m at New York auction,  BBC News Apr 11
• Data registry gives patients control: Patients designate what information can be used for research By Marianne Kolbasuk McGee, April 1, 2013.

Tools and Databases

• Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Gao J, et al. Sci Signal. 2013 Apr 2;6(269):pl1

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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