Genomics & Health Impact Update:

Volume 30   Number 20   May 16-23, 2013

Spotlight

National Women's Health Week: Breast Cancer, Genomics and Family History

• CDC feature: National Women’s Health Week 2013- an annual observance to encourage you to make your health a priority. Take simple steps for a safer and healthier life
• CDC information: Breast and ovarian cancer and family health history
• CDC information: Genetic testing for breast and ovarian cancer
• CDC fact sheet: Implementing evidence-based genomic tests and family health history [PDF 1.04 MB]
• My medical choice: My mother fought cancer for almost a decade and died at 56,  The New York Times, May 14

• Jolie's double mastectomy shines light on preventing cancer, NPR News May 15

Top of Page

---

 

Features of the Week

Winnable Battles in Public Health: Emerging Role of Genomics

To keep pace with emerging public health challenges and to address the leading causes of death and disability, CDC initiated an effort to achieve measurable impact in a few targeted areas or “winnable battles”. To find out more click here and check out trend data & 2015 targets

 

Implementation of Genomic Medicine: Role of Comparative Effectiveness Research

• New paper: Comparative effectiveness research in cancer genomics and precision medicine: Current landscape and future prospects
  Naoko I. Simonds, et al. JNCI, May 9

• Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research
  Goddard KA, et al. Genet Med 2012 Apr.
• Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies.
  Deverka PA, et al. Genet Med. 2012 Apr 5.
• Realizing the opportunities of genomics in health care.
  Ginsburg GS. JAMA. 2013 Apr 10;309(14):1463-4
• Comparative effectiveness research, genomics-enabled personalized medicine, and rapid learning health care: a common bond.
  Ginsburg GS, Kuderer NM. J Clin Oncol. 2012 Dec 1;30(34):4233-42.

Top of Page

---

 

Diseases of the Week

May is Cystic Fibrosis Awareness Month

• Cystic Fibrosis Awareness ToolKit, Cystic Fibrosis Foundation
• CDC facts: What is cystic fibrosis? [PDF 298.67 KB]
• Cystic fibrosis is included in the universal panel for newborn screening in the United States. Find out more about cystic fibrosis.

May is Hepatitis Awareness Month

• CDC Vital Signs: Hepatitis C- testing baby boomers saves lives
• CDC Information: About 3 million Americans have hepatitis C, most were born from 1945-1965.  If you were born during these years, talk to your doctor about getting tested.
• An FDA-approved hepatitis C RNA test should be used to identify active hepatitis C infection among persons who test anti-HCV positive

Skin Cancer Awareness

• CDC information: Risk factors for skin cancer include UV exposure & history of sunburn   
• CDC information: People who have a close relative (parent, sibling, or child) with a specific type of skin cancer called melanoma may be at greater risk of developing the disease than the general population
• NCI information: Skin cancer risk factors include inherited disorders, such as xeroderma pigmentosum or nevoid basal cell carcinoma syndrome, that make the skin more sensitive to the sun and increases the risk of skin cancer
• NCI Physician Desk Queries (PDQs): Genetics of skin cancer

May is Ehlers-Danlos Syndrome (EDS) Awareness Month

• Several states including Oklahoma [PDF 178.82 KB] and Oregon [PDF 107.87 KB] have declared May 2013 Ehlers-Danlos Syndrome (EDS) Awareness Month
• From the Mayo Clinic: Ehlers-Danlos syndrome is a group of inherited disorders that affect  connective tissues — primarily your skin, joints and blood vessel walls
• What is EDS? From the NIH Genetics Home Reference
• Risk factors for aortic aneurysm include family history and certain genetic diseases like Marfan syndrome and EDS [PDF 335.58 KB]

Top of Page

---

 

Select Events

• CDC and Emory University course: 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 medicine and disease prevention. Register now

Top of Page

---

 

Funding Opportunities

• National Human Genome Research Institute: Genomic medicine pilot demonstration projects

Top of Page

---

 

Reports and Publications

Cancer

• Communicating risk of hereditary breast and ovarian cancer with an interactive decision support tool
  Rupert DJ, et al. Patient Educ Couns 2013 May

• Cost-effectiveness of BRCA1 and BRCA2 mutation testing to target PARP inhibitor use in platinum-sensitive recurrent ovarian cancer
  Secord AA, et al. Int J Gynecol Cancer 2013 May

• Current Lynch syndrome tumor screening practices: A survey of genetic counselors.
  Cohen SA..  J Genet Couns. 2013 May 15.

• Familial risk of childhood cancer and tumors in the Li-Fraumeni spectrum in the Utah population database: Implications for genetic evaluation in pediatric practice
  Curtin K, et al. Int J Cancer 2013 May

• Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers
  Fehniger J, et al. J Genet Couns 2013 May

• A Novel Fully Automated Molecular Diagnostic System (AMDS) for colorectal cancer mutation detection
  Kitano S, et al. PLoS One 2013;8(5):e62989

• Uptake of genetic testing by relatives of Lynch syndrome Probands: a systematic review
  Sharaf RN, et al. Clin Gastroenterol Hepatol 2013 May

   
  

Ethics, Policy and Law

• Attitudes of African Americans toward return of results from exome and whole genome sequencing.
  Yu JH, et al. Am J Med Genet A. 2013 May;161(5):1064-72

• U.S. Equal Employment Opportunity Commission: Federal agency files first suit enforcing genetic discrimination law against fabric distributor that requested family medical history, refused to hire woman, May 7
• Your genes, your choice? Critics say the American College of Medical Genetics and Genomics’ recent recommendations for reporting incidental clinical sequencing results undermine patient autonomy, Genetic Engineering & Biotech News, May 9
• Personal Genome Project participants often identifiable, by Simon Leese, PHG Foundation, May 10  
• Public preferences regarding informed consent models for participation in population-based genomic research [PDF 408.35 KB]
  Platt J et al. Genetics in Medicine May 9
• Professional societies state concerns, recommendations for interim pricing on molecular tests, Clinical Lab Products, May 10
• Privacy protections: The genome hacker Yaniv Erlich shows how research participants can be identified from 'anonymous' DNA, Erika Check Hayden Nature 2013 May 8

Family History

• Addition of a novel, protective family history category allows better profiling of cardiovascular risk and atherosclerotic burden in the general population. The asklepios study
  Van Daele CM, et al. PLoS One 2013;8(5):e63185

• Synergistic effects of family history of hepatocellular carcinoma and hepatitis B virus infection on risk for incident hepatocellular carcinoma
  Loomba R, et al. Clin Gastroenterol Hepatol 2013 May

Genomic Tests

• Clinical utility gene card for: Johanson-Blizzard syndrome
  Sukalo M, et al. Eur J Hum Genet 2013 May

• Predictive gene testing for Huntington's dsease and other neurodegenerative disorders
  Wedderburn S, et al. Intern Med J 2013 May

Guidelines and Recommendations

• Guideline recommendations for EGFR mutation testing in lung cancer: Proposal of the Korean cardiopulmonary pathology study group
  Shim HS, et al. Korean J Pathol 2013 Apr;47(2):100-6

• Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing
  Allyse M, Michie M. Trends Biotechnol. 2013 May 3.

  • Patients should have right to control genomic health information, Medical Xpress, May 9

Newborn Screening

• A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document
  Cornel MC, et al. Eur J Hum Genet 2013 May

• Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform
  Sista RS, et al. Clin Chim Acta 2013 May

Public Health Sciences

• Funding considerations for the disclosure of genetic incidental findings in biobank research
  Black L, et al. Clin Genet 2013 May

• Public preferences regarding informed consent models for participation in population-based genomic research
  Platt J, et al. Genet Med 2013 May

• Worldwide policies on haemochromatosis and blood donation: a survey among blood services
  Pauwels NS, et al. Vox Sang 2013 May

Reviews and Commentaries on Science & Technology

• Meta-analysis methods for genome-wide association studies and beyond
  Evangelos Evangelou & John P. A. Ioannidis Nat Rev Genetics May 9

• Fishing for answers in human disease, by Dr. Francis Collins, NIH Blog, May 9
• Genetics of bipolar disorder
  Nick Craddock and Pamela Sklar, Lancet May 10

• A cautionary tale on genome-sequencing diagnostics for rare diseases, Science Daily, May 10
• Be warned, bacteria: We’re putting you to work, By Scott Kirsner, Boston Globe, May 12  
• Quantifying diet for nutrigenomic studies.
  Katherine L. Tucker et al.  Annual Review of Nutrition. April 29
• Hand-held probe could isolate human DNA in 2-3 minutes, PHG Foundation, May 13
• Big data needs a big theory to go with it,  West G, Scientific American, May 9
• Large scale genetics of human gene expression studies turn to next-gen sequencing, Next Gen Seek, May 14

Top of Page

---

CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

Top of Page