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, September 27, 2012       Volume 29   Number 13

Spotlight

Family History and Evidence-based Disease Prevention

• New CDC Podcast: Family Health History: Use It to Inform Preventive Services for Your Patients
• New CDC Blog:  Evidence Matters in Genomic Medicine—Round 3: Integrating Family Health History into Clinical Preventive Services
• Updated Evidence based Table: Genomic Tests and Family History by Levels of Evidence
• CDC Family history initiative & recent publications from the Family Healthware Intervention Trial (FHiTr)

• CDC Family Health History Page

Hereditary Breast and Ovarian Cancer Week

• HBOC Week (September 23rd September 30th) & Previvor Day (September 26th)
• Awareness of family history helped saved this person’s life.
• Presidential Proclamation: September 2012 as National Ovarian Cancer Awareness Month
• CDC information: Breast and ovarian cancer and family health history
• CDC quick facts: Family health history and genetic testing for breast and ovarian cancer

Genomics, Evidence-based Practice and Public Health Action

• CDC new blog: More Workings of an Evidence-Based Genomic Panel: Modernizing the Evidence Review Process

• New EGAPP methods update: Improving efficiency & relevance of evidence-based recommendations in the era of WGS

• New CDC article: Public Health Action in Genomics Is Now Needed beyond Newborn Screening
  Bowen MS, Kolor K, Dotson WD, et al. Public Health Genomics 2012 Sept 11

Gene-Environment Interaction & Obesity (Again)

• New Study: Genetic association with obesity risk appears to be more pronounced with greater intake of sugar-sweetened beverages.

• Calories from Soft Drinks — Do They Matter? NEJM Editorial
• Head to Head BMJ: Are the causes of obesity primarily environmental? No
• Head to Head BMJ: Are the causes of obesity primarily environmental? Yes
• CDC Information: Behavior, environment, and genetic factors all have a role in causing people to be overweight and obese

September is National Newborn Screening Month

• APHA: September is National Newborn Screening Awareness Month. See what babies are screened for in your state

• In 2010, CDC data showed over 97% of newborns in the US were screened for hearing loss.
• March of Dimes: The importance of newborn screening: Guest post written by Dr Coleen Boyle, CDC.
• Meet some of the people who work at CDC to support newborn screening

Personal Genomics and Personalized Medicine

• NPR News: Whole genome sequencing to solve medical mysteries? Early successes but major challenges ahead
  
• Berg JS, Adams M, Massar N, et al. A informatics approach to analyzing the incidentalome Genet Med. 2012 Sep 20.
• CDC paper: Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time.Genet Med. 2011 May 9.
• Boston Children's ‏Hospital: From gene discovery to 1st drug trial in 10 yrs—backstory of  Progeria & lessons about aging

Top of Page

---

 

Topics of the Week

Cancer

• Clinical Utility of an Epigenetic Assay to Detect Occult Prostate Cancer in Histopathologically Negative Biopsies: Results of the MATLOC Study
  Stewart GD, et al. J Urol 2012 Sep

• Current approaches in hereditary nonpolyposis colorectal cancer.
  Lynch PM.  J Natl Compr Canc Netw. 2012 Aug 1;10(8):961-7.

• Impact of Systematic EGFR and KRAS Mutation Evaluation on Progression-Free Survival and Overall Survival in Patients with Advanced Non–Small-Cell Lung Cancer Treated by Erlotinib in a French Prospective Cohort (ERMETIC Project—Part 2)
  Cadranel J, Mauguen A, Faller M, et al. Journal of Thoracic Oncology:  October 2012 - Volume 7 - Issue 10 - p 1490–1502

• Breast cancer risk–associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression
  Cowper-Sal Lari R, Zhang X, Wright JB, et al. Nat Genet. 2012 Sep 23.

  • Cancer researchers show why genetic risks promote breast cancer, Science Daily, September 24
  • Cervical cancer: El Salvador gets a screening test that women can administer at home, The New York Times, September 24

• Comprehensive molecular portraits of human breast tumours
  Nature 2012 Sept 23

  • Study reveals genomic similarities between breast cancer and ovarian cancers, NHGRI, September 23
  • Study divides breast cancer into four distinct types, The New York Times, September 23

Family History

• Screening women for oral contraception: can family history identify inherited thrombophilias?
  Grimes DA, et al. Obstet Gynecol 2012 Oct;120(4):889-95

Genomics in Practice

• Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods
  Hollands GJ, et al. BMC Med Genet 2012 Sep;13(1):87

• Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families
  Reiff M, et al. Clin Genet 2012 Sep

• A Clinician-Driven Automated System for Integration of Pharmacogenetic Interpretations Into an Electronic Medical Record
  Hicks JK, et al. Clin Pharmacol Ther 2012 Sep

• Ethical issues of genetic susceptibility testing for occupational diseases: opinions of trainees in a high-risk job
  Visser MJ, et al. Int Arch Occup Environ Health 2012 Sep

• Pharmacogenomics knowledge for personalized medicine
  Whirl-Carrillo M, et al. Clin Pharmacol Ther 2012 Oct;92(4):414-7

• The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: A Screening Tool to Select Patients for NOTCH3 Gene Analysis
  Pescini F, et al. Stroke 2012 Sep

• Lecture Materials from the Training Residents in Genomics (TRIG) Working Group, Intersociety Council for Pathology Information, Inc.

  • NCHPEG news: Free genomic medicine PowerPoint lectures now available, NCHPEG, September

• An informatics approach to analyzing the incidentalome.
  Berg JS, Adams M, Nassar N, et al. Genet Med. 2012 Sep 20.

  • Doctors, patients make better sense of genome data using informatics approach, Medical News Today, September 23

Guidelines and Recommendations

• EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
  Losekoot M, et al. Eur J Hum Genet 2012 Sep

Newborn Screening

• Newborn screening and the obstetrician
  Rose NC & Dolan SM Obstet Gynecol 2012 Oct;120(4):908-17

• Virtual Repository of Dried Blood Spots, Newborn Screening Translational Research Network

  • NBSTRN unveils new, first-of-its-kind virtual repository for newborn screening researchers: new system will save lives and improve newborn testing

Prenatal Testing

• Women's experiences receiving abnormal prenatal chromosomal microarray testing results.
  Bernhardt BA, Soucier D, Hanson K, et al. Genet Med. 2012 Sep 6.
  • Women's experiences with chromosome abnormalities found in new prenatal test, Medical News Today, September 25

Public Health Sciences

• A disease severity scoring system for children with type 1 Gaucher disease
  Kallish S & Kaplan P Eur J Pediatr 2012 Sep

• Candidate Genes Expression Profile Associated with Antidepressants Response in the GENDEP Study: Differentiating between Baseline 'Predictors' and Longitudinal  'Targets'
  Cattaneo A, et al. Neuropsychopharmacology 2012 Sep

• Sugar-Sweetened Beverages and Genetic Risk of Obesity
  Qi Q, Chu  A, Kang J, et al. New England Journal of Medicine 2012

  • Regular consumption of sugary beverages linked to increased genetic risk of obesity, Science Daily, September 21

Top of Page

---

CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

Top of Page