Publication Date: Jul 13, 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Fragile X Syndrome
Test your knowledge with CDC Disease of the Week - FDA approves new treatment for sickle cell disease First approval for this rare blood disorder in nearly 20 years
- Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete
R Lewis, PLOS Blogs, July 6, 2017 - Provision of Genetic Services for Autism and its Impact on Spanish Families.
Codina-Solà Marta et al. Journal of autism and developmental disorders 2017 Jul - Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Strovel Erin T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - Expanded Cystic Fibrosis Therapy.
Voelker Rebecca et al. JAMA 2017 Jul 318(1) 20 - Cystic Fibrosis and C. Diff : A Dangerous Combination
CDC's Safe Healthcare Blog Post, April 2017 - Personal Foul? Many issues, from discrimination to cost, surround the NCAA requirement for sickle cell trait testing in college athletes.
L Biel, Genome Magazine, July 2017 - Targeting of Antithrombin in Hemophilia A or B with RNAi Therapy.
Pasi K John et al. The New England journal of medicine 2017 Jul - FDA expands approved use of Kalydeco to treat additional mutations of cystic fibrosis
FDA, May 2017 - Cystic Fibrosis DNA Mutation Detection Proficiency Testing[PDF 1.58 MB]
CDC Division of Laboratory Systems, 2017 - Blood Disorders and Blood Safety- Healthy People 2020
US Healthy People 2020 Objectives
Cancer
- F.D.A. Panel Recommends Approval for Gene-Altering Leukemia Treatment
D Grady, New York Times, July 13, 2017 - Physicians discuss genetic testing for and treatment of colorectal cancer.
Printz Carrie et al. Cancer 2017 Jul 123(14) 2591-2593 - The science behind the story: Following a cancer vaccine from concept to proof of concept
T Ulrich, Broad Institute, July 6, 2017 - Largest genome-wide study of lung cancer susceptibility conducted
Science Mag, July 10, 2017 - Tumor gene testing urged to tell if drug targets your cancer
L Neergaard, Washington Post, July 6, 2017 - Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.
Achatz Maria Isabel et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul 23(13) e107-e114 - Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.
Kalish Jennifer M et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul 23(13) e115-e122 - Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Wasserman Jonathan D et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul 23(13) e123-e132 - A new hereditary colorectal cancer network in the Middle East and eastern mediterranean countries to improve care for high-risk families.
Ghorbanoghli Zeinab et al. Familial cancer 2017 Jul - From class waivers to precision medicine in paediatric oncology.
Pearson Andrew D J et al. The Lancet. Oncology 2017 Jul 18(7) e394-e404 - Urine circulating-tumor DNA (ctDNA) detection of acquired EGFR T790M mutation in non-small-cell lung cancer: An outcomes and total cost-of-care analysis.
Sands Jacob et al. Lung cancer (Amsterdam, Netherlands) 2017 Aug 11019-25 - Current condition of genetic medicine for hereditary breast cancer.
Terui-Kohbata Hiroko et al. Molecular and clinical oncology 2017 Jul 7(1) 98-102 - The influence of gene expression profiling on decisional conflict in decision making for early-stage breast cancer chemotherapy.
MacDonald Karen V et al. European journal of cancer (Oxford, England : 1990) 2016 Jul 6185-93 - Influence of the Angelina Jolie Announcement and Insurance Reimbursement on Practice Patterns for Hereditary Breast Cancer.
Lee Jihyoun et al. Journal of breast cancer 2017 Jun 20(2) 203-207 - Personalized cancer vaccines vanquish melanoma in small but encouraging study
S Begley, StatNews, July 5, 2017 - Large Study Verifies Cancer Risk for Women Carrying BRCA1 or BRCA2 Mutations
NCI, July 112, 2017
Chronic Disease
- eHealth provides a novel opportunity to exploit the advantages of the Nordic countries in psychiatric genetic research, building on the public health care system, biobanks, and registries.
Andreassen Ole A et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Jul - National-scale precision medicine for psychiatric disorders in Sweden.
Bergen Sarah E et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Jul - Guide for Current Nutrigenetic, Nutrigenomic, and Nutriepigenetic Approaches for Precision Nutrition Involving the Prevention and Management of Chronic Diseases Associated with Obesity.
Ramos-Lopez Omar et al. Journal of nutrigenetics and nutrigenomics 2017 Jul 10(1-2) 43-62 - The clinical impact of copy number variants in inherited bone marrow failure syndromes.
Waespe Nicolas et al. NPJ genomic medicine 2017 May 2 - Genetics of Schizophrenia: Overview of Methods, Findings and Limitations.
Henriksen Mads G et al. Frontiers in human neuroscience 2017 11322 - Gene-Environment Interactions-What Can These Tell Us about the Relationship between Asthma and Allergy?
Turner Steve et al. Frontiers in pediatrics 2017 5118 - Epigenetics, nutrition and mental health. Is there a relationship?
Stevens Aaron J et al. Nutritional neuroscience 2017 May 1-12 - Vulnerability or Sensitivity to the Environment? Methodological Issues, Trends, and Recommendations in Gene-Environment Interactions Research in Human Behavior.
Leighton Caroline et al. Frontiers in psychiatry 2017 8106 - Most Recent Asthma Data
- Pathogenesis of asthma: implications for precision medicine.
Russell Richard J et al. Clinical science (London, England : 1979) 2017 Jul 131(14) 1723-1735 - Harnessing Genomic Biobanks to Understand Obesity in Cardiometabolic Disease: Prospects and Pitfalls.
O'Donnell Christopher J et al. JAMA cardiology 2017 Jul
Ethics/Policy/Law
- Why genetic testing could become the DNA of insurance,
by Ronan McCaughey, Verdict, July 3, 2017 - Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design.
Takai-Igarashi Takako et al. BMC medical informatics and decision making 2017 Jul 17(1) 100 - Variation among Consent Forms for Clinical Whole Exome Sequencing.
Fowler Sara A et al. Journal of genetic counseling 2017 Jul
Practice
- Clinical genome sequencing and population preferences for information about 'incidental' findings-From medically actionable genes (MAGs) to patient actionable genes (PAGs).
Ploug Thomas et al. PloS one 2017 12(7) e0179935 - How the genomics revolution could finally help Africa.
Nordling Linda et al. Nature 2017 544(7648) 20-22 - Personalized medicine: A work in progress,
by Dr. Stephen B. Liggett, USF Health, July 5, 2017 - Secrets of the X chromosome,
Robin Ball, Ted Ed Lessons Worth Sharing - Genetic Counseling ‚ Genetic Testing
R Nesta, The DNA Exchange, July 4, 2017 - A combination test for detection of gene-environment interaction in cohort studies.
Coombes Brandon et al. Genetic epidemiology 2017 Jul 41(5) 396-412 - Chief medical officer calls for gene testing revolution,
by Michelle Roberts, BBC News, July 4, 2017 - Pilot Programs Seek to Integrate Genomic Data Into Practice.
Kuehn Bridget M et al. JAMA 2017 Jul - High Frequency Actionable Pathogenic Exome Mutations in an Average-Risk Cohort
S. Rego et al, BioRXIV, July 2017
Cardiovascular Diseases
- Statins for children with inherited high blood cholesterol
VA Kuoppola et al, Cochrane reviews, July 7, 2017 - Should We Perform Genetic Testing on Antiplatelet Therapy?
L Gross et al, American College of Cardiology, July 10, 2017 - Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil.
Silva Pãmela R S et al. Atherosclerosis 2017 Jun 263257-262 - Impact of Pharmacogenetics on Efficacy and Safety of Statin Therapy for Dyslipidemia.
Maxwell Whitney D et al. Pharmacotherapy 2017 Jul
Newborn Screening
- Expanded Newborn Screening: Information and Resources for the Family Physician.
Weismiller David Glenn et al. American family physician 2017 Jun 95(11) 703-709 - Neonatal screening improves sickle cell disease clinical outcome in Belgium.
Lê Phu-Quoc et al. Journal of medical screening 2017 Jan 969141317701166 - Baby genome screening - paving the way to genetic discrimination?
MG Seidel, BMJ Opinion July 5, 2017
Pharmacogenomics
- Educating patients and providers through comprehensive pharmacogenetic test reports.
Haga Susanne B et al. Pharmacogenomics 2017 Jul - New Data on Opioid Use and Prescribing in the United States.
Schuchat Anne et al. JAMA 2017 Jul - Collaborative counseling considerations for pharmacogenomic tests.
Zierhut Heather A et al. Pharmacotherapy 2017 Jul - Enabling Precision Medicine: The Role of Genetics in Clinical Drug Development: Proceedings of a Workshop
National Academies Workshop Report, July 10, 2017 - Proposal for a Pharmacogenetic Decision Algorithm.
Alzghari Saeed K et al. Cureus 2017 May 9(5) e1289 - The Ubiquitous Pharmacogenomics consortium: making effective treatment optimization accessible to every European citizen.
Manson Lisanne En et al. Pharmacogenomics 2017 Jul - Feasibility of clinical pharmacist-led CYP2C19 genotyping for patients receiving non-emergent cardiac catheterization in an integrated health system.
Johnson Samuel G et al. Pharmacy practice 15(2) 946 - The Innovative Canadian Pharmacogenomic Screening Initiative in Community Pharmacy (ICANPIC) study.
Papastergiou John et al. Journal of the American Pharmacists Association : JAPhA 2017 Jul
Reproductive Health
- Systematic Review and Meta-Analysis of Non-Invasive Prenatal DNA Testing for Trisomy 21: Implications for Implementation in China.
Jin Jiajie et al. Prenatal diagnosis 2017 Jul - Assessing the cost of implementing the 2011 Society of Obstetricians and Gynecologists of Canada and Canadian College of Medical Genetics practice guidelines on the detection of fetal aneuploidies.
Lilley Margaret et al. Prenatal diagnosis 2017 Jul - Management of hereditary antithrombin deficiency in pregnancy.
James Andra H et al. Thrombosis research 2017 May 15741-45
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.
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