Public Health Genomics Knowledge Base (v1.0)
Health Impact Weekly Scan
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Accuracy of A Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison with the Breath Test.
Alliende Francisco et al. Journal of pediatric gastroenterology and nutrition 2016 Mar - A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children.
Beale Sophie et al. Health technology assessment (Winchester, England) 2015 Jun 19(46) 1-90 - Overview: referrals for genetic evaluation from child psychiatrists.
Press Katharine R et al. Child and adolescent psychiatry and mental health 2016 107
Cancer
- Family history predictors of BRCA1/BRCA2 mutation status among Tunisian breast/ovarian cancer families.
Riahi Aouatef et al. Breast cancer (Tokyo, Japan) 2016 Mar - Identifying Women at Risk for Hereditary Breast and Ovarian Cancer Syndrome Utilizing Breast Care Nurse Navigation at Mammography and Imaging Centers.
Appel Susan J et al. Journal of National Black Nurses' Association : JNBNA 2015 Dec 26(2) 17-26 - Initial Trends in the Use of the 21-Gene Recurrence Score Assay for Patients With Breast Cancer in the Medicare Population, 2005-2009.
Dinan Michaela A et al. JAMA oncology 2015 May 1(2) 158-66 - UK BRCA mutation testing in patients with ovarian cancer.
George Angela et al. British journal of cancer 2015 Dec 113 Suppl 1S17-21 - Guiding Oncology Patients Through the Maze of Precision Medicine.
Giuse Nunzia Bettinsoli et al. Journal of health communication 21(sup1) 5-17 - Screening for Cancer Genetic Syndromes With a Simple Risk-Assessment Tool in a Community-Based Open-Access Colonoscopy Practice.
Gunaratnam Naresh T et al. The American journal of gastroenterology 2016 Mar - IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples.
Hintzsche Jennifer et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar - Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.
Kaderbhai Coureche Guillaume et al. Oncotarget 2016 Mar - Economic issues involved in integrating genomic testing into clinical care: the case of genomic testing to guide decision-making about chemotherapy for breast cancer patients.
Marino Patricia et al. Breast cancer research and treatment 2011 Sep 129(2) 401-9 - BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia.
Mundhofir Farmaditya Ep et al. Asian Pacific journal of cancer prevention : APJCP 2016 17(3) 1539-46 - My Cancer Genome
My Cancer Genome is a personalized cancer medicine knowledge resource for physicians, patients, caregivers and researchers. - Family Screening in Familial Papillary Carcinoma: The Early Detection of Thyroid Disease.
Ríos Antonio et al. Annals of surgical oncology 2016 Mar
Chronic Diseases
- Confirmation of genetic testing results in haemostasis and thrombosis - survey of current practice in the field.
Jennings I et al. Haemophilia : the official journal of the World Federation of Hemophilia 2016 Apr - Development of a community-based exercise program for people diagnosed and at-risk for Huntington's disease: A clinical report.
Clark Dalie et al. Physiotherapy theory and practice 2016 Apr 1-8 - Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations.
Pont-Sunyer Claustre et al. Movement disorders : official journal of the Movement Disorder Society 2015 Jun 30(7) 904-8
Ethics, Policy and Law
- Ethical issues in consumer genome sequencing: Use of consumers' samples and data.
Niemiec Emilia et al. Applied & translational genomics 2016 Mar 823-30 - 'Only a click away - DTC genetics for ancestry, health, love…and more: A view of the business and regulatory landscape'.
Phillips Andelka M et al. Applied & translational genomics 2016 Mar 816-22 - Federal Government's Proposed Expansion of Regulation of Biospecimen Research Should Be Reconsidered.
Robertson Christopher T et al. Biopreservation and biobanking 2016 Mar
Genomics in Practice
- Professional Issues of International Genetic Counseling Students Educated in the United States.
Akgumus Gozde et al. Journal of genetic counseling 2016 Mar - Attitudes towards personal genomics among older Swiss adults: An exploratory study.
Mählmann Laura et al. Applied & translational genomics 2016 Mar 89-15 - Web-Based Assessment of Genomic Knowledge Among Practicing Nurses: A Validation Study.
McCabe Margaret et al. Journal of continuing education in nursing 2016 Apr 47(4) 189-96
Cardiovascular Diseases
- Examining barriers to cascade screening for familial hypercholesterolemia in the United States
Andersen R, et al. Journal of Clinical Lipidology 2016 Mar-Apr - Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia.
Besseling Joost et al. European heart journal 2016 Apr
Newborn Screening
- Prenatal Education of Parents About Newborn Screening and Residual Dried Blood Spots: A Randomized Clinical Trial.
Botkin Jeffrey R et al. JAMA pediatrics 2016 Apr - Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study.
Carlos Aline Menezes et al. Sa~o Paulo medical journal = Revista paulista de medicina 133(5) 439-44 - Newborn screening for sickle cell diseases in the United States: A review of data spanning 2 decades.
Therrell Bradford L et al. Seminars in perinatology 2015 Apr 39(3) 238-51
Reproductive Health
- Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy.
Kohn Taylor P et al. Journal of assisted reproduction and genetics 2016 Mar
Pharmacogenomics
- Optimizing clopidogrel dose response: a new clinical algorithm comprising CYP2C19 pharmacogenetics and drug interactions.
Saab Yolande B et al. Therapeutics and clinical risk management 2015 111421-7 - Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Hoffman James M et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar - Proposal for a pharmacogenetics certificate program for pharmacists.
Haga Susanne B et al. Pharmacogenomics 2016 Mar - Impressions of pharmacogenomic testing among Certified Registered Nurse Anesthetists: a mixed-method study.
Riddle Dru et al. Pharmacogenomics 2016 Mar
News/Reviews/Commentaries
- Who Should Consider Genetic Counseling and Testing for Breast and Ovarian Cancer? : Guidelines Have Expanded,
My Gene Counsel, April 5, 2016 - Cause of rare immune disease identified,
by Mitch Leslie, Science Magazine, March 30, 2016 - Surprising Findings in Genetic Analysis of Familial Hypercholesterolemia Patients,
HPCLive, April 3, 2016 - Mother’s Smoking During Pregnancy Affects Baby’s DNA,
by Lisa Rapaport, Scientific American, April 1, 2016 - Not So Rare, FH Is Truly Risky Lipid Disorder,
by Larry Husten, Cardio Brief, April 3, 2016 - NCCN Adds New Gene Mutations to Consider in Women's Cancers,
by Fran Lowry, Medscape, April 4, 2016 - How genetic testing can be used against you – and how Bill S-201 could change that,
the Globe and Mail, April 5, 2016 - Possible cure for 'bubble boy disease' nearing EU approval,
by Stephen Feller, UPI, April 1, 2016
CDC-Authored Genomics Publications
- Importation and outbreak of wild polioviruses from 2000 to 2014 and interruption of transmission in Cameroon.
Endegue-Zanga Marie Claire, Sadeuh-Mba Serge Alain, Iber Jane, Burns Cara C, Moeletsi Nicksy Gumede, Baba Marycelin, Bukbuk David, Delpeyroux Francis, Mengouo Marcellin Nimpa, Demanou Maurice, Vernet Guy, Etoa François-Xavier, Njouom Richard Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology 2016 3 0. 18-24. - Proposed reference sequences for hepatitis E virus subtypes.
Smith Donald B, Simmonds Peter, Izopet Jacques, Oliveira-Filho Edmilson F, Ulrich Rainer G, Johne Reimar, Koenig Matthias, Jameel Shahid, Harrison Tim J, Meng Xiang-Jin, Okamoto Hiroaki, Van der Poel Wim H M, Purdy Michael A The Journal of general virology 2016 3 0. (3) 537-42.
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