Human Genomics across the Lifespan || 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
• Tools/Databases

Birth Defects and Child Health

• Gene therapy for sickle cell moves closer as scientists clear unexpected obstacle 
  StatNews, September 7, 2016
• Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications. 
  Youngblom Emily et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Sep 44(3) 514-9
• Autism severity linked to genetics, ultrasound, data analysis finds 
  Science Daily, September 1, 2016
• September is Infant Mortality Awareness Month 

Cancer

• The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology. 
  Joseph Loren et al. The Journal of molecular diagnostics : JMD 2016 Sep 18(5) 605-19
• Contribution of extended family history in assessment of risk for breast and colon cancer. 
  Solomon Benjamin L et al. BMC family practice 2016 17(1) 126
• A collaborative approach to cancer risk assessment services using genetic counselor extenders in a multi-system community hospital. 
  Cohen Stephanie A et al. Breast cancer research and treatment 2016 Aug
• Risk of Advanced Neoplasia Using the National Cancer Institute's Colorectal Cancer Risk Assessment Tool. 
  Imperiale Thomas F et al. Journal of the National Cancer Institute 2017 Jan 109(1)
• Blue ribbon report urges U.S. cancer moonshot to invest in 10 promising areas 
  J Kaiser, Science, September 7, 2016
• Cancer Moonshot Blue Ribbon Panel Recommendations 
  NCI, September 7, 2016
• Effect of decision aid for breast cancer prevention on decisional conflict in women with a BRCA1 or BRCA2 mutation: a multisite, randomized, controlled trial. 
  Metcalfe Kelly A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines. 
  Chun Danielle S et al. Familial cancer 2016 Sep
• Eye Melanoma, Media Hype, and Genomic Medicine 
  R Lewis, PLOS Blogs, September 1, 2016
• Mutational Markers and Risk Stratification in Thyroid Cancer-The Art of War Refined. 
  Story E Shannon et al. JAMA oncology 2016 Sep
• NCI embraces scientific road map to achieve Cancer Moonshot goals 
  NCI, September 7, 2016
• A U.S. “Cancer Moonshot” to accelerate cancer research 
  D Singer et al, Science, September 7, 2016
• Adverse Clinical Outcome Associated With Mutations That Typify African American Colorectal Cancers. 
  Wang Zhenghe et al. Journal of the National Cancer Institute 2016 Dec 108(12)
• Cancer experts unveil wishlist for US government ‘moonshot’ 
  H Ledford, Nature News, September 7, 2016
• Gene mutations that lead to more aggressive colorectal cancer in African American patients discovered 
  Science Daily, September 2, 2016
• Advances in genetics: widening our understanding of prostate cancer. 
  Pine Angela C et al. F1000Research 2016 5
• Waiting for Cancer, 
  by Patricia Fall, New York Times, September 1, 2016

Chronic Diseases

• The Role of the Gut Microbiota in Childhood Obesity. 
  Pihl Andreas Friis et al. Childhood obesity (Print) 2016 Aug 12(4) 292-9
• Early-Life Exposure to Antibiotics, Alterations in the Intestinal Microbiome, and Risk of Metabolic Disease in Children and Adults. 
  Yallapragada Sushmita G et al. Pediatric annals 2015 Nov 44(11) e265-9
• The Impact of Familial Predisposition to Obesity and Cardiovascular Disease on Childhood Obesity. 
  Nielsen Louise Aas et al. Obesity facts 2015 8(5) 319-28
• The Genetics of Pediatric Obesity. 
  Chesi Alessandra et al. Trends in endocrinology and metabolism: TEM 2015 Dec 26(12) 711-21

Ethics, Policy and Law

• Known unknowns: building an ethics of uncertainty into genomic medicine. 
  Newson Ainsley J et al. BMC medical genomics 2016 9(1) 57

Genomics in Practice

• Walking in the shoes of patients, not just in their genes: a patient-centered approach to genomic medicine. 
  Arora Neeraj K et al. The patient 2015 Jun 8(3) 239-45
• Genetic counselors' (GC) knowledge, awareness, understanding of clinical next-generation sequencing (NGS) genomic testing. 
  Boland P M et al. Clinical genetics 2015 Dec 88(6) 565-72
• Views of Cohort Study Participants about Returning Research Results in the Context of Precision Medicine. 
  Hyams Travis et al. Public health genomics 2016 Aug
• Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships. 
  Kalman Lisa V et al. Annals of laboratory medicine 2016 Nov 36(6) 513-20
• Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard. 
  Heale Bret S E et al. Applied clinical informatics 2016 7(3) 817-31
• Opportunities for community awareness platforms in personal genomics and bioinformatics education. 
  Bianchi Lucia et al. Briefings in bioinformatics 2016 Aug
• The Gene Messenger Impact Project: An Innovative Genetics Continuing Education Strategy for Primary Care Providers. 
  Carroll June C et al. The Journal of continuing education in the health professions 2016 36(3) 178-85
• Precision Public Health: More Precision Ahead for Individual and Population Interventions 
  Muin Khoury and Sandro Galea, CDC Blog Post, September 7, 2016
• Role-playing is an effective instructional strategy for genetic counseling training: an investigation and comparative study. 
  Xu Xiao-Feng et al. BMC medical education 2016 16(1) 235
• Precision Medicine and Population Health: Forging a Consensus 
  S Galea, Boston University, September 2016

Cardiovascular Diseases

• Genetics and Genomics of Coronary Artery Disease. 
  Pjanic Milos et al. Current cardiology reports 2016 Oct 18(10) 102
• Can the cardiovascular family history reported by our patients be trusted? The Norwegian Stroke in the Young Study. 
  Øygarden H et al. European journal of neurology 2016 Jan 23(1) 154-9
• Does a medical history of hypertension influence disclosing genetic testing results of the risk for salt-sensitive hypertension, in primary care? 
  Okayama Masanobu et al. International journal of general medicine 2016 9257-66
• Medication adherence, cascade screening, and lifestyle patterns among women with hypercholesterolemia: Results from the WomenHeart survey. 
  Benson Gretchen et al. Journal of clinical lipidology 10(4) 937-43
• Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry. 
  Alonso Rodrigo et al. Journal of clinical lipidology 10(4) 953-61
• Management of homozygous familial hypercholesterolemia in real-world clinical practice: A report of 7 Italian patients treated in Rome with lomitapide and lipoprotein apheresis. 
  Stefanutti Claudia et al. Journal of clinical lipidology 10(4) 782-9

Newborn Screening

• Mothers' Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses. 
  van Teeffelen Sarah R et al. Public health genomics 2016 19(1) 25-33
• A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. 
  Park Kyoung Jin et al. Annals of laboratory medicine 2016 Nov 36(6) 561-72
• Biobank participant support of newborn screening for disorders with variable treatment and intervention options. 
  Bunnell Megan E et al. Journal of community genetics 2016 Sep

Reproductive Health

• The measurement of patient attitudes regarding prenatal and preconception genetic carrier screening and translational behavioral medicine: an integrative review. 
  Shiroff Jennifer J et al. Translational behavioral medicine 2016 Aug
• Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies. 
  Brison Nathalie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• Precision Medicine For Your Practice: Prenatal Cell-free DNA Screening 
  AMA, CME course, AUgust 2016
• Precision medicine: What to know about cell-free DNA screening 
  AMA Wire, August 31, 2016

Pharmacogenomics

• Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. 
  Postmus Iris et al. Journal of medical genetics 2016 Sep
• Parental Perception of Self-Empowerment in Pediatric Pharmacogenetic Testing: The Reactions of Parents to the Communication of Actual and Hypothetical CYP2D6 Test Results. 
  Adelsperger Sarah et al. Health communication 2016 Aug 1-8
• Role of pharmacogenetics in public health and clinical health care: a SWOT analysis. 
  Kapoor Ritika et al. European journal of human genetics : EJHG 2016 Aug
• Pharmacogenetics Informs Clinical Practice 
  by DeeAnn Visk, Ph.D., GEN, September 1, 2016

Tools and Databases

• The biorepository portal toolkit: an honest brokered, modular service oriented software tool set for biospecimen-driven translational research. 
  Felmeister Alex S et al. BMC genomics 2016 17 Suppl 4434
• The Biorepository Portal Toolkit 
  Integrated Applications for Translational Research

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)