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, October 18, 2012       Volume 29   Number 16

Spotlight

Cascade Screening and Public Health Action in Genomics

 

• New CDC Video: Cascade genetic screening and public health practice: An idea whose time has come.

• New CDC Blog: New Strategies in Public Health Genomics Beyond Newborn Screening: Working meeting and action plan to save lives now

• New CDC article: Public Health Action in Genomics Is Now Needed beyond Newborn Screening
• JAMA Article: Identification of Lynch Syndrome among patients with colorectal cancer
• Wenter’s story: Familial Hypercholesterolemia- it is common, treatable and affects others in your family
• Familial Hypercholesterolemia journeys: FH is not an individual diagnosis, it is a family diagnosis
• CDC podcast on cascade screening in Familial Hypercholesterolemia: what should healthcare providers know?
• Family matters in health care delivery-health systems rarely support patient-family-clinician partnerships

Outbreak Investigations

• Current CDC outbreak public health investigations: meningitis, salmonella, listeriosis & more
• CDC multistate meningitis outbreak investigation
• Fighting Outbreaks with Bacterial Genomics: Case Review and Workflow Proposal.
  Cheung MK, Kwan HS. Public Health Genomics. 2012 Oct 3
• Outbreak of Mycobacterium mucogenicum Bloodstream Infections among Patients with Sickle Cell Disease in an Outpatient Setting.
  Ashraf MS, Swinker M, Augustino KL, et al. Infect Control Hosp Epidemiol. 2012 Nov;33

Genomics Training and Competencies

• Training clinicians AND public health professionals is crucial for the success of genomics in improving health, Secretary’s Advisory Committee on Genetics, Health and Society 2011 report and recommendations [PDF 2.55 MB]
• CDC Genomic competencies for the Public Health Workforce, a decade later
• Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics
• The Emerging Role of Genomics in Physician Assistant Practice
• Pharmacist education in the era of genomic medicine

Return of Individual Results of Genomic Research.

• Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives.
  Chan B, Facio FM, Eidem H, et al. Am J Bioeth. 2012 Oct;12(10):1-8
• Beneficence, clinical urgency, and the return of individual research results to relatives.
  Fullerton SM, Trinidad SB, Jarvik GP, Burke W. Am J Bioeth. 2012 Oct;12(10):9-10.
• Disclosing individual genetic research results to deceased participants' relatives by means of a qualified disclosure policy.
  Bredenoord AL, van Delden JJ. Am J Bioeth. 2012 Oct;12(10):10-2.
• Disclosing results to genomic research participants: differences that matter.
  Blasimme A, Soulier A, Julia S, et al. Am J Bioeth. 2012 Oct;12(10):20-2.

Personal Genomics

• Personal genetic test to assess benefit from aerobic exercise? Many questions remain.
• Physical activity for every one: CDC information on benefits of exercise
• CDC paper: scientific foundation of personal genomics: recommendations for research
• CDC paper: personal utility and genomic information: look before you leap
• Scientific American Blog: $1000 Genome is here: but not ready for routine clinical practice
• To ban or not to ban? Clinical geneticists' views on the regulation of direct-to-consumer genetic testing
• Global Direct to Consumer Genetic Testing Industry, Sacramento Bee, October 17
  

October is Breast Cancer Awareness Month

• CDC feature: Learn what factors can increase your chance of getting breast cancer
• CDC feature: Learn how family history increases risk of getting breast cancer
• CDC information: Genetic testing for breast/ovarian cancer
• Being young, female, and BRCA positive
• Cancer Genetics Risk Assessment and Counseling (PDQ®) - National Cancer Institute
• Genetic Testing for Breast Cancer-Interview with Dr Judy Garber-October 17, 2012

October is Spina Bifida Month

• CDC Information: What Should You know About Spina Bifida?
• Read Nancy’s Story
• A small proportion of spina bifida cases run in families: information from National Library of Medicine
• Find out information about genes associated with spina bifida and other neural tube defects from the HuGE Navigator
• Is the recommended daily dose of folic acid enough for everyone?  Women with previously affected pregnancy may need a higher dose to prevent spina bifida
  
  

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Topics of the Week

Cancer

• A Comprehensive Genetic Approach for Improving Prediction of Skin Cancer Risk in  Humans
  Vazquez AI, et al. Genetics 2012 Oct

• First-Degree Relatives of Colorectal Cancer Patients Are Likely to Show Advanced  Colorectal Neoplasia despite a Negative Fecal Immunochemical Test
  Cha JM, et al. Digestion 2012 Oct;86(4):283-7

• Increased primary healthcare utilisation among women with a history of breast cancer
  Roorda C, et al. Support Care Cancer 2012 Oct

• Knowledge and perceptions of familial and genetic risks for breast cancer risk in adolescent girls
  Bradbury AR, et al. Breast Cancer Res Treat 2012 Oct

• Receipt of Genetic Counseling Recommendation Among Black Women at High Risk for BRCA Mutations
  Thompson HS, et al. Genet Test Mol Biomarkers 2012 Oct

• Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.
  Ingham SL, Warwick J, Byers H, et al. Clin Genet. 2012 Oct 10.

• Identification of Lynch Syndrome Among Patients With Colorectal Cancer
  Leticia Moreira; Francesc Balaguer; Noralane Lindor  et al. JAMA 2012; 308(15): 1555-1565.

  • Gene screening tops in finding Lynch Syndrome, Medpage Today, October 16
• The secret to success: Eliciting a thorough cancer family history, Onc Live, October 11

Family History

• Comparison of Family History and SNPs for Predicting Risk of Complex Disease
  Chuong B. Do, David A. Hinds, Uta Francke, et al. PLoS Genetics 8(10): e1002973

  • 23andMe compares family history and genetic tests for predicting complex disease risk, 23andMe, October 15
• The link between family history and risk of type 2 diabetes is not explained by anthropometric, lifestyle or genetic risk factors: the EPIC-InterAct study
  Diabetologia 2012 Sep

Genomics in Practice

• Personalized Genomics and the Rhetoric of Patient Empowerment,
  Eric T. Juengst, Michael A. Flatt, and Richard Settersten, Jr.,  Hastings Center Report 42, no. 5 (2012): 34-40.

  • Personalized genomic medicine: How much can it really empower patients? EurekAlert, October 15
• Clinicians' views on introducing epidermal growth factor receptor testing in New Zealand
  Batten LS, et al. Asia Pac J Clin Oncol 2012 Oct
• The challenge of implementing genetic tests with clinical utility while avoiding  unsound applications
  Cornel MC, et al. J Community Genet 2012 Oct
• Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families
  Miller EM, et al. J Genet Couns 2012 Oct

Genomic Testing

• Clinical Utility Gene Card for: campomelic dysplasia
  Scherer G, et al. Eur J Hum Genet 2012 Oct

• Clinical Utility Gene Card for: incontinentia pigmenti
  Fusco F, et al. Eur J Hum Genet 2012 Oct

Newborn Screening

• Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening
  Forman J, et al. J Community Genet 2012 Oct

Pharmacogenomics

• Combinatorial Pharmacogenetic Interactions of Bucindolol and β1, α2C Adrenergic Receptor Polymorphisms
  O'Connor, C., et al. PLoS ONE   7(10): e44324

  • Two-gene test predicts which patients with heart failure respond best to beta-blocker drug, study finds, Medical Xpress, October 16

Public Health Sciences

• The use of a Toolkit for health needs assessment on neural tube defects in Argentina
  Groisman B, et al. J Community Genet 2012 Oct

• Stronger effect of amyloid load than APOE genotype on cognitive decline in healthy older adults
  Y. Y. Lim, K. A. Ellis, R. H. Pietrzak, et al. Neurology, 2012; 79 (16): 1645

  • Plaque build-up in your brain may be more harmful than having Alzheimer's gene, Science Daily, October 15
• Peripheral Blood Gene Expression as a Novel Genomic Biomarker in Complicated Sarcoidosis
  Zhou T, Zhang W, Sweiss NJ, et al. PLoS One. 2012;7(9):e44818.

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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