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

Birth Defects and Child Health

• A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening. 
  Prontera Paolo et al. Public health genomics 2016 Oct
• International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient. 
  Liming Bryan J et al. International journal of pediatric otorhinolaryngology 2016 Nov 90251-258

Cancer

• Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population. 
  Wiesman Chana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct
• Vice President Cancer Moonshot Report to the President 
  October 17, 2016
• The analytical validation of the Oncotype DX Recurrence Score assay. 
  Baehner Frederick L et al. Ecancermedicalscience 2016 10675
• Advanced cancer patients' attitudes towards, and experiences with, screening for somatic mutations in tumours: a qualitative study. 
  Liang R et al. European journal of cancer care 2016 Oct
• Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care. 
  Graffeo Rossella et al. Breast cancer research and treatment 2016 Oct
• Educational and Psychosocial Support Needs in Lynch Syndrome: Implementation and Assessment of an Educational Workshop and Support Group.
  Corines Marina J et al. Journal of genetic counseling 2016 Oct
• Identification and management of women with a family history of breast cancer: Practical guide for clinicians. 
  Heisey Ruth et al. Canadian family physician Medecin de famille canadien 2016 Oct 62(10) 799-803
• Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse? 
  Kim Randie H et al. Journal of the American Academy of Dermatology 2016 Nov 75(5) 1078-1079
• Moving In and Out of the What-Ifs: The Experiences of Unaffected Women Living in Families Where a Breast Cancer 1 or 2 Genetic Mutation Was Not Found. 
  Schroeder Dawn et al. Cancer nursing 2016 Oct

Chronic Diseases

• Factors Related to Genetic Testing in Adults at Risk for Huntington Disease: The Prospective Huntington At-Risk Observational Study (PHAROS). 
  Quaid Kimberly A et al. Clinical genetics 2016 Oct
• A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling. 
  Hitchcock Emma et al. Journal of genetic counseling 2016 Oct
• Predictive utility of a genetic risk score of common variants associated with type 2 diabetes in a black South African population. 
  Chikowore Tinashe et al. Diabetes research and clinical practice 2016 Oct 1221-8

Ethics, Policy and Law

• "It's all about trust": reflections of researchers on the complexity and controversy surrounding biobanking in South Africa. 
  Moodley Keymanthri et al. BMC medical ethics 2016 Oct 17(1) 57
• Combating Racial Health Disparities Through Medical Education: The Need for Anthropological and Genetic Perspectives in Medical Training. 
  Bolnick Deborah A et al. Human biology 2015 Oct 87(4) 361-371

Genomics in Practice

• Progress lies in precision. 
  Desmond-Hellmann Sue et al. Science (New York, N.Y.) 2016 Aug 353(6301) 731
• Advanced Big Data Analytics for -Omic Data and Electronic Health Records: Toward Precision Medicine. 
  Wu Po-Yen et al. IEEE transactions on bio-medical engineering 2016 Oct
• Biobank attributes associated with higher patient participation: a randomized study. 
  Gayet-Ageron Angèle et al. European journal of human genetics : EJHG 2016 Oct
• The Amazing Story of the Genome Editing Method, CRISPR 
  Medical Futurist
• A Precision Medicine Approach to Clinical Trials 
  R Rubin, JAMA< October 19, 2016
• Evaluating stakeholder's perspective on referred out genetic testing in Canada: a discrete choice experiment. 
  Blumenschein P et al. Clinical genetics 2016 Jan 89(1) 133-8
• Primary care providers' experiences with and perceptions of personalized genomic medicine. 
  Carroll June C et al. Canadian family physician Medecin de famille canadien 2016 Oct 62(10) e626-e635
• Success of future health systems hinges on access to data, say experts 
  R Bazeley, PHG Foundation, October 18, 2016
• The dark side of the human genome. 
  Chi Kelly Rae et al. Nature 2016 Aug 538(7624) 275-277
• PIGSR: A Preference Instrument for Genomics Secondary Results 
  CSER Consortium Online Tool
• It takes a genome to understand a village: Population scale precision medicine 
  A Butte, PNAS< October 19, 2016
• Paths to Precision Health: Act Now 
  R Zimmern et al, PHG Foundation News Release, October 17, 2016
• Parents' Understanding of Genetics and Heritability. 
  Harding Brittany et al. Journal of genetic counseling 2016 Oct
• Improving biobank consent comprehension: a national randomized survey to assess the effect of a simplified form and review/retest intervention. 
  Beskow Laura M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct

Cardiovascular Diseases

• The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death. 
  Tiziano Francesco Danilo et al. Frontiers in cardiovascular medicine 2016 328
• Update on hypertrophic cardiomyopathy and a guide to the guidelines. 
  Sen-Chowdhry Srijita et al. Nature reviews. Cardiology 2016 Nov 13(11) 651-675

Reproductive Health

• Systematic Design and Comparison of Expanded Carrier Screening Panels 
  KA Beauchamp et al, BioXRV, Oct 2016
• Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives. 
  van Schendel Rachel V et al. Prenatal diagnosis 2016 Oct
• Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact. 
  Oepkes Dick et al. Prenatal diagnosis 2016 Oct

Pharmacogenomics

• Genetics of Substance Use Disorders. 
  Yu Cassie et al. Child and adolescent psychiatric clinics of North America 2016 Jul 25(3) 377-85
• Harnessing Knowledge on Very Important Pharmacogenes CYP2C9 and CYP2C19 Variation for Precision Medicine in Resource-Limited Global Conflict Zones. 
  Barlas Ibrahim Ömer et al. Omics : a journal of integrative biology 2016 Oct 20(10) 604-609

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)