Recent Additions to the Genomics and Health Impact Scan Database ▲ Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

Recent Additions to the Genomics and Health Impact Scan Database

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
• Pharmacogenomics
• Reproductive Health
• Tools/Databases
• News/ Reviews/Comments
• Funding

Birth Defects and Child Health

• Gene therapy for sickle cell disease passes key preclinical test 
  Harvard Gazettte, September 2016
• An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. 
  Mnika Khuthala et al. Omics : a journal of integrative biology 2016 Sep
• Current and emerging treatment strategies for Duchenne muscular dystrophy. 
  Mah Jean K et al. Neuropsychiatric disease and treatment 2016 121795-807
• FDA commissioner calls for Sarepta drug study to be retracted 
  StatNews, September 22, 2016
• Importance of a specialty clinic for individuals with fragile X syndrome. 
  Visootsak Jeannie et al. American journal of medical genetics. Part A 2016 Sep
• For two brothers with Duchenne, an FDA drug approval brings joy and relief 
  J Delviscio, StatNews, September 20, 2016
• Childhood obesity and new technologies 
  L Cameron, PHG Foundation, September 16, 2016
• FDA approves Sarepta’s controversial drug for Duchenne muscular dystrophy 
  E Silverman, Stat News, September 19, 2016
• Sarepta to charge $300K for Duchenne drug. ‘We tried to be reasonable,’ CEO says 
  E Silverman, StatNews, September 19, 2016
• Advances in gene therapy for muscular dystrophies. 
  Abdul-Razak Hayder et al. F1000Research 2016 5
• Developmental biology: Panoramic views of the early epigenome. 
  Vaquerizas Juan M et al. Nature 2016 Sep

Cancer

• Cancer Immunotherapy At A Crossroads 
  B Stetka, NPR, September 17, 2016
• A gene defect as a potential gateway for targeted prostate cancer therapy 
  EMBO News, Sept 2016
• Cancer Immunotherapy Review Articles 
  PubMed Search, September 17, 2017
• The Impact of an Expanded Genetic Testing Program and Selective Oophorectomy on the Incidence of Ovarian Cancer in West Pomerania. 
  Menkiszak J et al. Clinical genetics 2016 Sep
• Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling. 
  Benusiglio Patrick R et al. Familial cancer 2016 Sep
• Endometrial carcinoma-related genetic factors: application to research and clinical practice in China. 
  Zhou J Y et al. BJOG : an international journal of obstetrics and gynaecology 2016 Sep 123 Suppl 390-6
• BRCA Share 
• The Emergence of Precision Urologic Oncology: A Collaborative Review on Biomarker-driven Therapeutics. 
  Barbieri Christopher E et al. European urology 2016 Aug
• BRCA Share: A Collection of Clinical BRCA Gene Variants. 
  Beroud Christophe et al. Human mutation 2016 Sep
• Toward a Shared Vision for Cancer Genomic Data 
  RL Grossman et al, NEJM, September 21, 2016
• Psychological factors associated with the intention to choose for risk-reducing mastectomy in family cancer clinic attendees. 
  van Driel C M G et al. Breast (Edinburgh, Scotland) 2016 Sep 3066-72
• Clinical evidence supporting genomic tests in early breast cancer: Do all genomic tests provide the same information? 
  Markopoulos C et al. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2016 Aug
• Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counseling for hereditary cancer: a systematic review. 
  Willis Amanda M et al. Clinical genetics 2016 Sep
• Breast Cancer Risk Based on the Gail Model and its Predictors in Iranian Women. 
  Mirghafourvand Mojgan et al. Asian Pacific journal of cancer prevention : APJCP 17(8) 3741-3745
• Urologists' Current Practices in Screening and Treating Men with a Family History of Prostate Cancer. 
  Rudichuk Lauren et al. Urology 2016 Sep
• What's New in Genetic Testing for Cancer Susceptibility? 
  Plichta Jennifer K et al. Oncology (Williston Park, N.Y.) 2016 Sep 30(9)
• The Present and Future of Biomarkers in Prostate Cancer: Proteomics, Genomics, and Immunology Advancements. 
  Gaudreau Pierre-Olivier et al. Biomarkers in cancer 2016 8(Suppl 2) 15-33
• Precision medicine for advanced prostate cancer. 
  Mullane Stephanie A et al. Current opinion in urology 2016 May 26(3) 231-9

Chronic Diseases

• The potential of epigenetics in stress-enhanced fear learning models of PTSD. 
  Blouin Ashley M et al. Learning & memory (Cold Spring Harbor, N.Y.) 2016 Oct 23(10) 576-86
• Recent Findings in Alzheimer Disease and Nutrition Focusing on Epigenetics. 
  Athanasopoulos Dimitrios et al. Advances in nutrition (Bethesda, Md.) 2016 Sep 7(5) 917-27
• Toward a Global Roadmap for Precision Medicine in Psychiatry: Challenges and Opportunities. 
  Dalvie Shareefa et al. Omics : a journal of integrative biology 2016 Sep
• Obesity treatment—are personalised approaches missing the point? 
  AE Tedstone, BMJ, September 20, 2016
• FTO genotype and weight loss: systematic review and meta-analysis of 9563 individual participant data from eight randomised controlled trials 
  MM Livingstone et al, BMJ, September 20, 2016
• Interactions between host genetics and gut microbiome in diabetes and metabolic syndrome. 
  Ussar Siegfried et al. Molecular metabolism 2016 Sep 5(9) 795-803
• Genetics of Obesity. 
  Srivastava Apurva et al. Indian journal of clinical biochemistry : IJCB 2016 Oct 31(4) 361-71
• Behavior, environment, and genetic factors all have a role in causing people to be overweight and obese 
• Smoking may affect DNA for more than 30 years 
  H Nichols, Medical News Today, September 21, 2016

Ethics, Policy and Law

• Am I my Family's Keeper? Disclosure Dilemmas in Next Generation Sequencing. 
  Wouters Roel H P et al. Human mutation 2016 Sep

Genomics in Practice

• Implementation science, genomic precision medicine, and improved health: A new path forward? 
  Williams Janet K et al. Nursing outlook 2016 Aug
• Data Sharing at a Crossroads 
  F Rockhold et al, NEJM, September 21, 2016
• Pharmacogenomics and Global Precision Medicine in the Context of Adverse Drug Reactions: Top 10 Opportunities and Challenges for the Next Decade. 
  Alessandrini Marco et al. Omics : a journal of integrative biology 2016 Sep
• Content Analysis of Informed Consent for whole Genome Sequencing Offered by Direct-to-Consumer Genetic testing Companies. 
  Niemiec Emilia et al. Human mutation 2016 Sep
• Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing? 
  Oliveri Serena et al. Journal of medical genetics 2016 Sep
• The Importance — and the Complexities — of Data Sharing 
  JM Drazen et al, NEJM, September 21, 2016
• 2016 Precision Public Health Summit Full Report
  UCSF, September 21, 2016

Cardiovascular Diseases

• WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the era of Big Databases. 
  Pinard Amélie et al. Human mutation 2016 Sep
• Novel Therapies for Familial Hypercholesterolemia. 
  Parizo Justin et al. Current treatment options in cardiovascular medicine 2016 Nov 18(11) 64

Reproductive Health

• Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling. 
  van Eerde Albertien M et al. Kidney international 2016 Oct 90(4) 905-6
• Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing. 
  Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2016 Aug 38(8) 742-762.e3
• Swedish parents' interest in preconception genetic carrier screening. 
  Ekstrand Ragnar Maria et al. Upsala journal of medical sciences 2016 Sep 1-6

Pharmacogenomics

• Getting Pharmacogenomics Into the Clinic 
  J Abbasi, JAMA, September 21, 2016
• Economic Evaluation of Pharmacogenetic Tests in Patients Subjected to Renal Transplantation: A Review of Literature. 
  Rancic Nemanja et al. Frontiers in public health 2016 4189
• ePGA: A Web-Based Information System for Translational Pharmacogenomics. 
  Lakiotaki Kleanthi et al. PloS one 2016 11(9) e0162801
• Pharmacogenetic research activity in Central America and the Caribbean: a systematic review. 
  Céspedes-Garro Carolina et al. Pharmacogenomics 2016 Sep
• Patient experiences with pharmacogenetic testing in a primary care setting. 
  Haga Susanne B et al. Pharmacogenomics 2016 Sep
• ePGA - electronic PharmacoGenomic Assistance services 

Tools and Databases

• Engaging Māori in biobanking and genomic research: a model for biobanks to guide culturally informed governance, operational, and community engagement activities. 
  Beaton Angela et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. 
  Tabor Holly K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep

News/Reviews/Commentaries

• Gene editing meets gene therapy 
  Genomic Education Program, UK, September 2016

Funding Opportunities

• Genomics of HIV/AIDS Drug Response and Co-Morbidities (R01) 

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.

Public Health Genomics Knowledge Base (v1.2)