Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Mar 16, 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
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Survival Comparison of Patients With Cystic Fibrosis in Canada and the United States: A Population-Based Cohort Study  
   AL Stephenson et al, Ann Int Medicine March 13, 2017
• Rounding up sickle cells with gene therapy  
   L Byrne, Science Translational Medicine, March 15, 2017
• Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.  
   Wirrell Elaine C et al. Pediatric neurology 2017 Mar 6818-34.e3
• Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.  
   Robert Cyrille et al. International journal of molecular sciences 2017 Mar 18(3)
• Von Willebrand's Disease.  
   Leebeek Frank W G et al. The New England journal of medicine 2016 Nov 375(21) 2067-2080
• The genetic basis of cerebral palsy.  
   Fahey Michael C et al. Developmental medicine and child neurology 2017 Jan
• Molecular diagnosis of von Willebrand disease.  
   Baronciani L et al. Haemophilia : the official journal of the World Federation of Hemophilia 2017 Feb
• Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.  
   Haug Shelly et al. JAMA pediatrics 2017 Feb
• Emergency department utilization by haemophilia patients in United States.  
   Zakieh A et al. Haemophilia : the official journal of the World Federation of Hemophilia 2017 Feb
• 'Stunning’ gap: Canadians with cystic fibrosis outlive Americans by a decade  
   E Boodman, Stat News, March 14, 2017
• Down syndrome and the complexity of genome dosage imbalance.  
   Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar 18(3) 147-163
• Autism genetics: opportunities and challenges for clinical translation.  
   Vorstman Jacob A S et al. Nature reviews. Genetics 2017 Mar
• Gene delivery to the lungs: pulmonary gene therapy for cystic fibrosis.  
   Villate-Beitia Ilia et al. Drug development and industrial pharmacy 2017 Mar 1-11
• Recent advances in hemophilia B therapy.  
   Horava Sarena D et al. Drug delivery and translational research 2017 Feb

Cancer

• Genomic tests to guide prostate cancer management following diagnosis.  
   Colicchia Michele et al. Expert review of molecular diagnostics 2017 Mar 1-11
• Family history of colorectal cancer and its impact on survival in patients with resected stage III colon cancer: results from NCCTG Trial N0147 (Alliance).  
   Jansson-Knodell Claire L et al. Journal of gastrointestinal oncology 2017 Feb 8(1) 1-11
• Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer.  
   Cicero G et al. Journal of genetic counseling 2017 Mar
• New blood test could help detect and locate cancer early on  
   Science Magazine, March 6, 2017
• Expert Explains the Importance of Genetic Testing for Patients With Ovarian Cancer  
   K Kosko, Targeted Oncology, March 14, 2017
• Lynch syndrome – highlighting recent and upcoming activities  
   M Clyne, Research to Reality Blog Post, March 2017
• A comparison of genetic risk score with family history for estimating prostate cancer risk.  
   Helfand Brian T et al. Asian journal of andrology 18(4) 515-9
• Preparing young people for future decision-making about cancer risk in families affected or at risk from hereditary breast cancer: A qualitative interview study.  
   Rowland Emma et al. European journal of oncology nursing : the official journal of European Oncology Nursing Society 2016 Dec 259-15
• Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers.  
   Dagan Efrat et al. Journal of genetic counseling 2017 Mar

Chronic Diseases

• A Precision Medicine Initiative for Alzheimer's disease: the road ahead to biomarker-guided integrative disease modeling.  
   Hampel H et al. Climacteric : the journal of the International Menopause Society 2017 Apr 20(2) 107-118
• Epigenetics and Signaling Pathways in Glaucoma.  
   Gauthier Angela C et al. BioMed research international 2017 20175712341
• Predicting Polygenic Obesity Using Genetic Information.  
   Loos Ruth J F et al. Cell metabolism 2017 Mar 25(3) 535-543

Ethics, Policy and Law

• ASHG applauds passage of Canadian Genetic Non-Discrimination Act  
   Science Magazine, March 9, 2017
• Equity in Precision Medicine: Is It Within Our Reach?  
   Armstrong Katrina et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Mar 15(3) 421-423
• Ethical Issues Surrounding Personalized Medicine: A Literature Review.  
   Salari Pooneh et al. Acta medica Iranica 2017 Mar 55(3) 209-217
• Research Ethics 2.0: New Perspectives on Norms, Values, and Integrity in Genomic Research in Times of Even Scarcer Resources.  
   Brall Caroline et al. Public health genomics 2017 Mar

Genomics in Practice

• Personal utility in genomic testing: a systematic literature review  
   JN Kohler et al, Eur J Hum Genetics, March 15, 2017
• Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study.  
   Costal Tirado A et al. Journal of genetic counseling 2017 Mar
• Adding Protective Genetic Variants to Clinical Reporting of Genomic Screening Results: Restoring Balance.  
   Schwartz Marci L B et al. JAMA 2017 Mar
• Public health and precision medicine share a goal.  
   Vaithinathan Asokan G et al. Journal of evidence-based medicine 2016 Dec
• Genetic counselors, genetic interpreters, and conflicting interests  
   K Stoll et al, Harvard Law, March 2017
• Genome editing in medicine - where are we?  
   L Blackburn, PHG Foundation, March 14, 2017
• Informed Consent: The Case of “-Omics” Literacy  
   Hammer Marilyn et al. Oncology nursing forum 2017 44(1) 28-30
• Genomic Literacy, Education, and Engagement (GLEE) Initiative[PDF 415 KB]  
   NHGRI, March 2017
• Genomics education for medical professionals - the current UK landscape.  
   Slade Ingrid et al. Clinical medicine (London, England) 2016 Aug 16(4) 347-52
• European registration process for Clinical Laboratory Geneticists in genetic healthcare.  
   Liehr Thomas et al. European journal of human genetics : EJHG 2017 Mar
• Health behaviors not significantly changed by direct-to-consumer genetic testing.  
   Barton Mary Kay et al. CA: a cancer journal for clinicians 2017 Mar
• Genetic Evaluation, Familial Screening and Exercise.  
   Stein Ricardo et al. Arquivos brasileiros de cardiologia 2017 Mar 0

Cardiovascular Diseases

• Genetic Risk Could Guide Heart Disease Prevention  
   D Macnamara, Medscape, March 10, 2017
• Is Coronary Atherosclerosis One Disease or Many? Setting Realistic Expectations for Precision Medicine[PDF 281.78 KB]  
   AV Khera, et al. Circulation, March 2017
• Genetics of coronary artery disease: discovery, biology and clinical translation.  
   Khera Amit V et al. Nature reviews. Genetics 2017 Mar
• New Collaboration Improves Access to Treatment for Familial Hypercholesteremia (FH) Patients Most at Risk for Early Heart Attacks and Death  
   PRNewswire, March 15, 2017

Newborn Screening

• Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.  
   Hayeems Robin Z et al. The Journal of pediatrics 2017 Mar
• Newborn Screening in the Age of Genomics: Innovation Versus Evidence  
   CJ Saunders et al. AACC News, March 2017
• Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.  
   Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48

Reproductive Health

• At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.  
   Morales Ana et al. Journal of genetic counseling 2017 Mar
• Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review.  
   Chen Chih-Ping et al. Taiwanese journal of obstetrics & gynecology 2016 Oct 55(5) 712-717
• Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations.  
   Zhang Wenke et al. Journal of assisted reproduction and genetics 2016 Jul 33(7) 899-906

Pharmacogenomics

• Genetic Testing for Psychopharmacology: Is It Ready for Prime Time?  
   Leahy Laura G et al. Journal of psychosocial nursing and mental health services 2017 Mar 55(3) 19-23
• Development of a postgraduate year 2 pharmacy residency in clinical pharmacogenetics.  
   Haidar Cyrine E et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2017 Mar 74(6) 409-415

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.