Genomics & Health Impact Weekly Scan || 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
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Gene therapy: A new chapter. 
  King Anthony et al. Nature 2016 537(7621) S158-9
• CFTR pharmacology. 
  Zegarra-Moran Olga et al. Cellular and molecular life sciences : CMLS 2016 Oct
• Genetic medicines for CF: Hype versus reality. 
  Alton Eric W F W et al. Pediatric pulmonology 2016 Oct 51(S44) S5-S17
• Interventions for patients and caregivers to improve knowledge of sickle cell disease and recognition of its related complications. 
  Asnani Monika R et al. The Cochrane database of systematic reviews 2016 Oct 10CD011175
• A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors. 
  Alfaro Arenas Ramona et al. Journal of genetic counseling 2016 Oct
• Cystic fibrosis: a clinical view. 
  Castellani Carlo et al. Cellular and molecular life sciences : CMLS 2016 Oct
• Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives. 
  Schmidt Béla Z et al. Clinical pharmacology : advances and applications 2016 8127-140
• With CRISPR, scientists correct genetic mutation that causes sickle cell disease 
  LA Times, October 12, 2016
• CRISPR deployed to combat sickle-cell anaemia 
  H Ledford, Nature News, October 12, 2016
• 3 Gene Editing Approaches for Sickle Cell Disease 
  R Lewis, PLOS Blogs, October 13, 2016

Cancer

• Universal tumor screening for Lynch syndrome: health-care providers' perspectives. 
  Bombard Yvonne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct
• Screening for Genetic Testing in Breast Cancer - Are We Missing the Full Picture? 
  McCormick G et al. Clinical oncology (Royal College of Radiologists (Great Britain)) 2016 Mar 28(3) 226
• The knowledge value-chain of genetic counseling for breast cancer: an empirical assessment of prediction and communication processes. 
  Amara Nabil et al. Familial cancer 2016 Jan 15(1) 1-17
• Our genes, our selves: hereditary breast cancer and biological citizenship in Norway. 
  Solbrække Kari Nyheim et al. Medicine, health care, and philosophy 2016 Oct
• Prenatal versus Postnatal Screening for Familial Retinoblastoma. 
  Soliman Sameh E et al. Ophthalmology 2016 Oct
• Issues Arising in Psychological Consultations to Help Parents Talk to Minor and Young Adult Children about their Cancer Genetic Test Result: a Guide to Providers. 
  Patenaude Andrea Farkas et al. Journal of genetic counseling 2016 Oct
• A pilot randomised controlled trial of the feasibility, acceptability and impact of giving information on personalised genomic risk of melanoma to the public. 
  Smit Amelia K et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 Oct
• Clinical Utility of the 12-Gene DCIS Score Assay: Impact on Radiotherapy Recommendations for Patients with Ductal Carcinoma In Situ. 
  Manders Jennifer B et al. Annals of surgical oncology 2016 Oct
• Divide and Conquer to Treat Lung Cancer. 
  Johnson Bruce E et al. The New England journal of medicine 2016 Oct
• New and emerging targeted treatments in advanced non-small-cell lung cancer. 
  Hirsch Fred R et al. Lancet (London, England) 2016 Sep 388(10048) 1012-24
• Nutrigenomics at the Interface of Aging, Lifespan, and Cancer Prevention. 
  Riscuta Gabriela et al. The Journal of nutrition 2016 Oct 146(10) 1931-1939

Chronic Diseases

• Your genes, diet and health: what you need to know 
  Genomics education UK, September 2016
• Key elements of metabolomics in the study of biomarkers of diabetes. 
  Adamski Jerzy et al. Diabetologia 2016 Oct
• Exposing the exposures responsible for type 2 diabetes and obesity 
  PW Franks et al, Science, October 7, 2016
• Genetic feedback to reduce alcohol consumption in hospital outpatients with risky drinking: feasibility and acceptability. 
  Johnson Natalie A et al. Public health research & practice 2016 Sep 26(4)

Ethics, Policy and Law

• The ethics of sustainable genomic research in Africa. 
  Parker Michael et al. Genome biology 2016 Mar 1744

Genomics in Practice

• Ancestry Testing and the Practice of Genetic Counseling. 
  Kirkpatrick Brianne E et al. Journal of genetic counseling 2016 Oct
• Genetic Counselor Workforce Issues: a Survey of Genetic Counselors Licensed in the State of Indiana. 
  Cohen Stephanie A et al. Journal of genetic counseling 2016 Oct
• Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their Views and Experience of Facilitating Multi-Family Discussion Groups. 
  Eisler Ivan et al. Journal of genetic counseling 2016 Oct
• Genomics is failing on diversity 
  AB Popejoy et al, Nature, October 12, 2016
• SUID and SDY Case Registries 
• Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. 
  Kessler Michael D et al. Nature communications 2016 Oct 712521
• Community Health Workers: An Untapped Resource to Promote Genomic Literacy. 
  Allen Caitlin G et al. Journal of health communication 2016 21(sup2) 25-29
• PMI Cohort Program announces new name: the All of Us Research Program 
  NIH, October 13, 2016

Cardiovascular Diseases

• Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 
  Brænne Ingrid et al. European journal of human genetics : EJHG 2016 Feb 24(2) 191-7
• A model to assess the cost-effectiveness of pharmacogenomics tests in chronic heart failure: the case of ivabradine. 
  Iliza Ange C et al. Pharmacogenomics 2016 Oct
• Molecular Autopsies ID Genetic Suspects in Cases of Sudden Death 
  GEN News Highlights, October 12, 2016
• Sudden death and cardiac arrest without phenotype: the utility of genetic testing. 
  Wijeyeratne Yanushi D et al. Trends in cardiovascular medicine 2016 Aug
• Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association. 
  Mital Seema et al. Circulation. Cardiovascular genetics 2016 Sep

Newborn Screening

• Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country. 
  De Castro-Hamoy Leniza G et al. Journal of community genetics 2016 Oct

Reproductive Health

• Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening? 
  Holtkamp Kim C A et al. European journal of human genetics : EJHG 2016 Feb 24(2) 171-7
• Informed decision-making about prenatal cfDNA screening: An assessment of written materials. 
  Michie Marsha et al. Ethics, medicine, and public health 2(3) 362-371

Pharmacogenomics

• Measuring High-Risk Patients' Preferences for Pharmacogenetic Testing to Reduce Severe Adverse Drug Reaction: A Discrete Choice Experiment. 
  Dong Di et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 19(6) 767-775

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.