Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

June 8, 2017

Publication Date: Jun 8, 2017

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
• Practice
• Cardiovascular Diseases
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Why study rare genetic conditions?  
   N Rahman, TGMI blog post, June 2, 2017
• Advancing Treatment and Care for Fragile X Syndrome 

Cancer

• Distinct implications of different BRCA mutations: efficacy of cytotoxic chemotherapy, PARP inhibition and clinical outcome in ovarian cancer.  
   Hollis Robert L et al. OncoTargets and therapy 2017 102539-2551
• Epidermal growth factor receptor and anaplastic lymphoma kinase testing and mutation prevalence in patients with advanced non-small cell lung cancer in Switzerland: A comprehensive evaluation of real world practices.  
   Ess S M et al. European journal of cancer care 2017 May
• Improving Health and Quality of Life After Cancer 
• PARP inhibitors in ovarian cancer: evidence, experience and clinical potential.  
   Evans Tarra et al. Therapeutic advances in medical oncology 2017 Apr 9(4) 253-267
• Prognostic Importance of C-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia: A Systematic Review.  
   Ayatollahi Hossein et al. Hematology/oncology and stem cell therapy 2017 Mar 10(1) 1-7
• Poly(adenosine diphosphate-ribose) polymerase as therapeutic target: lessons learned from its inhibitors.  
   Cseh Anna Mária et al. Oncotarget 2017 Apr
• Precision or imprecision medicine?  
   L Hutchinson et al, Nat Rev Clin Oncol 2016
• Could a Blood Test Detect Early-Stage Cancers?  
   M Tontonoz, ASCO, June 2017
• New Drug Shows Durable Efficacy Across Diverse Pediatric and Adult Cancers-Larotrectinib Targets Rare Genetic Abnormality, TRK Fusions  
   ASCO, June 3, 2017
• Office of Cancer Survivorship  
• Phase III Trial of PARP Inhibitor Shows First Evidence of Improved Outcomes in Breast Cancer  
   Memorial Sloan Kettering, ASCO, June 4, 2017
• 'Liquid Biopsy’ Passes Early Test in Quest to Find Cancer in Blood  
   Fortune, June 3, 2017
• How and When to Implement Precision Oncology How and When to Implement Precision Oncology How and when to implement precision oncology 
   LD Nadauld et al, ASCO 2017 annual meeting
• Game of chance: Are most cancers linked to nothing more than bad luck?  
   M Knight, June 1, 2017, Genetic Literacy Project
• Childhood Cancer Genomics (PDQ®) Health Professional Version  
• Clinical utility of gene-expression signatures in early stage breast cancer.  
   Kwa Maryann et al. Nature reviews. Clinical oncology 2017 May
• Identification of Genomic Somatic Variants in Cancer: From Discovery to Actionability.  
   Fawcett G L et al. Advances in clinical chemistry 78123-162
• Sharing Clinical and Genomic Data on Cancer - The Need for Global Solutions.  
  et al. The New England journal of medicine 2017 376(21) 2006-2009
• Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.  
   Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31
• A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families. 
   Li Wenhui L et al. The Journal of molecular diagnostics : JMD 2016 Jul 18(4) 480-93
• CONNECT registry shows only 9 percent compliance with genetic testing guidelines for AML  
   Science Mag, June 5, 2017
• Routine genomic testing is feasible, but only a subset of patients benefit  
   Science Mag, June 5, 2017
• Routine Genomic Testing in Cancer Patients May Be Feasible  
   Cancer Network, ASCO, June 3, 2017

Chronic Diseases

• Application of pharmacogenomics to investigate adverse drug reactions to the disease-modifying treatments for multiple sclerosis: a case-control study protocol for dimethyl fumarate-induced lymphopenia.  
   Kowalec Kaarina et al. BMJ open 2017 Jun 7(5) e016276
• The Genetic Diagnosis of Interstitial Lung Disease: A Need for an International Consensus.  
   Borie Raphael et al. American journal of respiratory and critical care medicine 2017 Jun 195(11) 1538-1539
• Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.  
   Crook Ashley et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 Jun 1-11
• Gene-Diet Interactions in Type 2 Diabetes: The Chicken and Egg Debate.  
   Ortega Ángeles et al. International journal of molecular sciences 2017 Jun 18(6)

Genomics in Practice

• A Proposed Genomic Literacy, Education, and Engagement (GLEE) Initiative  
   NHGRI, June 6, 2017
• Precision Public Health: Introduction Sources for all disciplines charged with ensuring the health of whole populations  
   University of Florida, 2017
• Introducing "Genomics and Precision Health".  
   Feero W Gregory et al. JAMA 2017 317(18) 1842-1843
• No Shortcuts on the Long Road to Evidence-Based Genomic Medicine.  
   Khoury Muin J et al. JAMA 2017 Jun
• Data Sharing Statements for Clinical Trials: A Requirement of the International Committee of Medical Journal Editors.  
   Taichman Darren B et al. JAMA 2017 Jun
• Beta Testing Begins for NIH’s All of Us Research Program  
• Personalized medicine in Europe: not yet personal enough?  
   Di Paolo Antonello et al. BMC health services research 2017 Apr 17(1) 289
• ‘Do It Youself’ Genetic Tests Create Challenge For Doctors,  
   CBS SF Bay Area, June 4, 2017
• Are there any shortcuts on the translation highway to genomic medicine?
   MJ Khoury, CDC Blog Post, June 1, 2017
• Precision Public Health: Panacea or Contradiction in Terms?  
   Thomas A. Pearson, slide presentation, University of Florida
• Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities.  
   Beckmann Jacques S et al. Genome medicine 2016 8(1) 134
• Strength in Numbers: genetic sequencing of large populations is shaping the future of medicine  
   RL Collins, Harvard School of Arts and Sciences, June 5, 2017

Cardiovascular Diseases

• Thrombophilia Testing in Provoked Venous Thromboembolism: A Teachable Moment.  
   Gupta Arjun et al. JAMA internal medicine 2017 Jun
• Family history of high blood pressure focuses trainer’s mission on heart health  
   American Heart Association News, May 31, 2017
• Assessment of the clinical utility of adding common single nucleotide polymorphism genetic scores to classical risk factor algorithms in coronary heart disease risk prediction in UK men.  
   Beaney Katherine E et al. Clinical chemistry and laboratory medicine 2017 Jun
• Thrombophilia testing results in patients with a first venous thromboembolic event: should the selection criteria for testing be revisited?  
   Hirmerova Jana et al. International angiology : a journal of the International Union of Angiology 2017 Apr 36(2) 167-173

Reproductive Health

• Multi-omics and male infertility: status, integration and future prospects.  
   Sinha Ashima et al. Frontiers in bioscience (Scholar edition) 2017 Jun 9375-394
• Initiative for standardization of reporting genetics of male infertility.  
   Traven Eva et al. Systems biology in reproductive medicine 2017 Feb 63(1) 58-66
• Current status of non-invasive prenatal testing in Japan.  
   Samura Osamu et al. The journal of obstetrics and gynaecology research 2017 Jun
• Genomics: Tool to predict and prevent male infertility.  
   Halder Ashutosh et al. Frontiers in bioscience (Scholar edition) 2017 Jun 9448-508
• Frequently Asked Questions
   Certain genetic conditions can cause infertility in men

Pharmacogenomics

• The genetic basis of antiplatelet and anticoagulant therapy: A pharmacogenetic review of newer antiplatelets (clopidogrel, prasugrel and ticagrelor) and anticoagulants (dabigatran, rivaroxaban, apixaban and edoxaban).  
   O'Connor Cormac T et al. Expert opinion on drug metabolism & toxicology 2017 Jun

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.