Human Genomics across the Lifespan :: Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

Health Impact Weekly Scan

About the Genomics & Health Impact Weekly Scan

This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• News/ Reviews/Comments

Birth Defects and Child Health

• Prevention and Periodontal Treatment in Down Syndrome Patients: A Systematic Review. 
  Ferreira Rafael et al. PloS one 2016 11(6) e0158339
• Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. 
  Farwell Hagman Kelly D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Growth Charts for Children with Down Syndrome 
• Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome. 
  Santoro Stephanie L et al. The Journal of pediatrics 2016 Apr 171262-8.e1-2
• Genetic determinants of fetal opiate exposure and risk of neonatal abstinence syndrome: Knowledge deficits and prospects for future research. 
  Lewis T et al. Clinical pharmacology and therapeutics 2015 Sep 98(3) 309-20

Cancer

• Why Gene Tests for Cancer Don't Offer More Answers 
  Despite progress, genetic profiling of tumors has a long way to go, Scientific American, September 1, 2016
• Effects of lifestyle intervention in BRCA1/2 mutation carriers on nutrition, BMI, and physical fitness (LIBRE study): study protocol for a randomized controlled trial. 
  Kiechle Marion et al. Trials 2016 17368
• 21-Gene recurrence score decreases receipt of chemotherapy in ER+ early-stage breast cancer: an analysis of the NCDB 2010-2013. 
  Parsons Benjamin M et al. Breast cancer research and treatment 2016 Aug
• New challenges for BRCA testing: a view from the diagnostic laboratory. 
  Wallace Andrew J et al. European journal of human genetics : EJHG 2016 Sep 24 Suppl 1S10-8
• Finding all BRCA pathogenic mutation carriers: best practice models. 
  Hoogerbrugge Nicoline et al. European journal of human genetics : EJHG 2016 Sep 24 Suppl 1S19-26
• Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers? 
  Cragun Deborah et al. Genetic testing and molecular biomarkers 2016 Aug
• Neoadjuvant Chemotherapy for Newly Diagnosed, Advanced Ovarian Cancer: Society of Gynecologic Oncology and American Society of Clinical Oncology Clinical Practice Guideline. 
  Wright Alexi A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Aug
• Prevalence of ESR1 Mutations in Cell-Free DNA and Outcomes in Metastatic Breast Cancer: A Secondary Analysis of the BOLERO-2 Clinical Trial. 
  Chandarlapaty Sarat et al. JAMA oncology 2016 Aug
• Pancreatic cancer biology and genetics from an evolutionary perspective. 
  Makohon-Moore Alvin et al. Nature reviews. Cancer 2016 Jul
• Advances in Hereditary Colorectal and Pancreatic Cancers. 
  Underhill Meghan L et al. Clinical therapeutics 2016 Jul 38(7) 1600-21
• ESR1 Mutations in Cell-Free DNA of Breast Cancer: Predictive "Tip of the Iceberg". 
  Fuqua Suzanne A W et al. JAMA oncology 2016 Aug
• Can Pancreatic Cancer Be Inherited? 
  Dana Farber, August 16, 2016

Chronic Diseases

• High genetic risk individuals benefit less from resistance exercise intervention. 
  Klimentidis Y C et al. International journal of obesity (2005) 2015 Sep 39(9) 1371-5
• Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores. 
  Läll Kristi et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• An epigenetic clock analysis of race/ethnicity, sex, and coronary heart disease. 
  Horvath Steve et al. Genome biology 2016 17(1) 171
• Epigenetic Effects of PTSD Remediation in Veterans Using Clinical Emotional Freedom Techniques: A Randomized Controlled Pilot Study. 
  Church Dawson et al. American journal of health promotion : AJHP 2016 Aug
• Stop the Clot, Spread the Word 
  New Campaign Materials on Blood Clots and Hospitalization
• Epigenetics, behavior and early nicotine. 
  Maldonado Rafael et al. Nature neuroscience 2016 Jun 19(7) 863-4
• Genetic and Environmental Risk for Chronic Pain and the Contribution of Risk Variants for Major Depressive Disorder: A Family-Based Mixed-Model Analysis 
  A McIntosh et al, PLOS Medicine, August 16, 2016

Ethics, Policy and Law

• Why take part in personalised cancer research? Patients' genetic misconception, genetic responsibility and incomprehension of stratification-an empirical-ethical examination. 
  Perry J et al. European journal of cancer care 2016 Aug
• It's Interpersonal: Family Relationships, Genetic Risk, and Caregiving. 
  Koehly Laura M et al. The Gerontologist 2016 Aug
• What can we Learn from Patients' Ethical Thinking about the right 'not to know' in Genomics? Lessons from Cancer Genetic Testing for Genetic Counselling. 
  Cowley Lorraine et al. Bioethics 2016 Aug
• Spiking genomic databases with misinformation could protect patient privacy 
  Anna Nowogrodzki, Nature News, August 15, 2016
• US personalized-medicine industry takes hit from Supreme Court 
  H Ledford, Nature News, August 17, 2016
• Protecting privacy in genomics databases 
  L Hardesty, MIT News, August 9, 2016

Genomics in Practice

• Largest collection of human exome sequence data yields unprecedented tool for diagnosing rare disease 
  Broad Institute, August 17, 20o16
• Animal-based studies will be essential for precision medicine 
  K. C. Kent Lloyd, Science Trans Med, August 17, 2016
• Genetic Misdiagnoses and the Potential for Health Disparities. 
  Manrai Arjun K et al. The New England journal of medicine 2016 Aug 375(7) 655-665
• Towards precision medicine. 
  Ashley Euan A et al. Nature reviews. Genetics 2016 Aug 17(9) 507-22
• Survey shows broad support for national precision medicine study 
  NIH Press Release, August 17, 2016
• A Survey of U.S Adults' Opinions about Conduct of a Nationwide Precision Medicine Initiative® Cohort Study of Genes and Environment. 
  Kaufman David J et al. PloS one 11(8) e0160461
• ExAC project pins down rare gene variants 
  Nature, August 17, 2016
• Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross-sectional study. 
  Lopes-Júnior Luís Carlos et al. Nursing & health sciences 2016 Aug
• Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views. 
  Bertier Gabrielle et al. BMC medical genomics 2016 9(1) 52
• Announcing the Exome Aggregation Consortium paper 
  D MacArthur blog, August 17, 2016

Cardiovascular Diseases

• Cost-effectiveness of PCSK9 Inhibitor Therapy in Patients With Heterozygous Familial Hypercholesterolemia or Atherosclerotic Cardiovascular Disease. 
  Kazi Dhruv S et al. JAMA 2016 Aug 316(7) 743-753
• β-Blocker Adherence in Familial Long QT Syndrome. 
  Waddell-Smith Kathryn E et al. Circulation. Arrhythmia and electrophysiology 2016 Aug 9(8)
• Outcomes of a Pilot Intervention Study for Young Adults at Risk for Cardiovascular Disease Based on Their Family History. 
  Imes Christopher C et al. The Journal of cardiovascular nursing 31(5) 433-440
• Cardiovascular Health Promotion in Children: Challenges and Opportunities for 2020 and Beyond: A Scientific Statement From the American Heart Association. 
  Steinberger Julia et al. Circulation 2016 Aug

Newborn Screening

• Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry. 
  Elliott Susan et al. Data in brief 2016 Sep 8915-24
• Parental intentions to enroll children in a voluntary expanded newborn screening program. 
  Paquin Ryan S et al. Social science & medicine (1982) 2016 Jul 16617-24

Reproductive Health

• Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. 
  Haque Imran S et al. JAMA 2016 Aug 316(7) 734-742
• Experiences of Prenatal Genetic Screening and Diagnostic Testing Among Pregnant Korean Women of Advanced Maternal Age. 
  Jun Myunghee et al. Journal of transcultural nursing : official journal of the Transcultural Nursing Society / Transcultural Nursing Society 2016 Aug
• Attitudes toward carrier screening and prenatal diagnosis for recessive hereditary deafness among the educated population in urban China. 
  Fu Xiaoli et al. American journal of medical genetics. Part A 2016 Aug
• Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. 
  Kuhl Ashley et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Where to Draw the Boundaries for Prenatal Carrier Screening. 
  Grody Wayne W et al. JAMA 2016 Aug 316(7) 717-719

Pharmacogenomics

• Pharmacogenetic-guided psychiatric intervention associated with increased adherence and cost savings. 
  Fagerness Jesen et al. The American journal of managed care 2014 May 20(5) e146-56
• Clinical Utility and Economic Impact of CYP2D6 Genotyping. 
  Reynolds Kristen K et al. Clinics in laboratory medicine 2016 Sep 36(3) 525-42
• The Pharmacist's Perspective on Pharmacogenetics Implementation. 
  Weitendorf Frederick et al. Clinics in laboratory medicine 2016 Sep 36(3) 543-56

News/Reviews/Commentaries

• Gene therapy 2.0: Will CRISPR make expensive treatment accessible to all? 
  D Warmflash, Genetic Literacy Project, August 16, 2016

Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.