Publication Date: Jun 28, 2018
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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- A Drug Costs $272,000 a Year. Not So Fast, Says New York State.
K Thomas, New York Times, June 19, 2018 - [Application of next generation sequencing in congenital sensorineural deafness].
Xu B et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 Jun 32(11) 811-815 - Current and Emerging Therapies for Duchenne Muscular Dystrophy.
Crone Megan et al. Current treatment options in neurology 2018 Jun 20(8) 31 - Implementation of Duchenne Muscular Dystrophy Care Considerations.
Andrews Jennifer G et al. Pediatrics 2018 Jun - Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu Cong et al. Journal of molecular medicine (Berlin, Germany) 2018 Jul 96(7) 701-712 - Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.
Peng Jing et al. CNS neuroscience & therapeutics 2018 Jun - Gene modification therapies: views of parents of people with Down syndrome.
Michie Marsha et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
Cancer
- 23andMe's test for a breast-cancer gene can reveal life-changing information, but can also lead down an expensive and complicated path
A laVito, CNBC, June 2018 - What genetic testing didn’t tell me about my cancer-Even as a doctor, I didn’t grasp what my DNA test meant. How can we expect consumers to understand the caveats?
PN Munster, Salon, June 25, 2018 - Atezolizumab for First-Line Treatment of Metastatic Nonsquamous NSCLC.
Socinski Mark A et al. The New England journal of medicine 2018 378(24) 2288-2301 - Gene expression signature for detection of gastric cancer in peripheral blood.
Shi Jianing et al. Oncology letters 2018 Jun 15(6) 9802-9810 - Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.
Watanabe Gou et al. Cancer science 2018 Jun 109(6) 2027-2035 - Mutation-counting blood test could predict if cutting-edge immunotherapies can beat a cancer
K Garber, Science, June 27, 2018 - Comprehensive molecular classification of localized prostate adenocarcinoma reveals a tumour subtype predictive of a non-aggressive disease.
Kamoun A et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Jun - Maintaining therapeutic progress in multiple myeloma by integrating genetic and biological advances into the clinic.
Morgan Gareth J et al. Expert review of hematology 2018 Jun 1-11 - HER2 Expression Status and Prognostic, Diagnostic, and Demographic Properties of Patients with Gastric Cancer: a Single Center Cohort Study from Iran
Feizy Abdolamir et al. Asian Pacific journal of cancer prevention : APJCP 2018 Jun 19(6) 1721-1725 - Gastrointestinal cancer risk in patients with a family history of gastrointestinal cancer.
Chung Joo Won et al. The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi 2018 Jun 71(6) 338-348 - Circulating Tumor DNA Assays in Clinical Cancer Research.
Ossandon Miguel R et al. Journal of the National Cancer Institute 2018 Jun - Change in inflammatory biomarkers and adipose tissue in BRCA1/2+ breast cancer survivors following a year-long lifestyle modification program.
Sturgeon Kathleen M et al. Cancer prevention research (Philadelphia, Pa.) 2018 Jun - Recommendations on Disease Management for Patients With Advanced Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer and Brain Metastases: ASCO Clinical Practice Guideline Update.
Ramakrishna Naren et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jun JCO2018792713 - Short-Duration Rapid Chilling of Mastectomy Specimens Does Not Interfere With Breast Cancer Biomarker and Molecular Testing.
Kumarapeli Asangi R et al. Archives of pathology & laboratory medicine 2018 Jun - Recommendations on prevention and screening for breast cancer in Hong Kong.
Lam T H et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Jun 24(3) 298-306 - Cancer panel analysis of circulating tumor cells in patients with breast cancer.
Lee Cham Han et al. Oncology letters 2018 Jul 16(1) 612-618 - Practical issues of biomarker-assisted targeted therapy in precision medicine and immuno-oncology era.
Lee Dae Ho et al. ESMO open 2018 3(Suppl 1) e000370 - Precision Neuro-oncology: the Role of Genomic Testing in the Management of Adult and Pediatric Gliomas.
Ramkissoon Lori A et al. Current treatment options in oncology 2018 Jun 19(8) 41 - P16 INK4a gene promoter methylation as a biomarker for the diagnosis of non-small cell lung cancer: An updated meta-analysis.
Tuo Lei et al. Thoracic cancer 2018 Jun - Comparison of targeted next generation sequencing (NGS) versus isolated BRAF V600E analysis in patients with metastatic melanoma.
Zhu Meng-Lei et al. Virchows Archiv : an international journal of pathology 2018 Jun - Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.
de Jonge Marthe M et al. The Journal of molecular diagnostics : JMD 2018 Jun - Circulating Tumor DNA as a Sensitive Marker in Patients Undergoing Irreversible Electroporation for Pancreatic Cancer.
Lin Mao et al. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018 Jun 47(4) 1556-1564 - An up-to-date catalog of available urinary biomarkers for the surveillance of non-muscle invasive bladder cancer.
Soria Francesco et al. World journal of urology 2018 Jun - Pathologist's health care value in the triage of Oncotype DX ® testing : A value-based pathology study of tumor biology with outcomes.
Dabbs David J et al. Histopathology 2018 Jun - Personalized Nutrition-Genes, Diet, and Related Interactive Parameters as Predictors of Cancer in Multiethnic Colorectal Cancer Families.
Shiao S Pamela K et al. Nutrients 2018 Jun 10(6) - Finding a Balance: Reconciling the Needs of the Institution, Patient, and Genetic Counselor for Optimal Resource Utilization.
Patel Devanshi et al. Journal of genetic counseling 2018 Jun - Differences in inherited risk among relatives of hereditary prostate cancer patients using genetic risk score.
Helfand Brian T et al. The Prostate 2018 Jun
Chronic Disease
- Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis.
Hsu Hui-Ching et al. Journal of visualized experiments : JoVE 2018 Jun (136) - Screening for Osteoporosis to Prevent Fractures: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2018 Jun 319(24) 2521-2531 - Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis.
Salter Matthew et al. EBioMedicine 2018 Jun - Screening to Prevent Osteoporotic Fractures: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
Viswanathan Meera et al. JAMA 2018 Jun 319(24) 2532-2551 - The Importance of New Generation Sequencing (NGS) HLA Typing in Renal Transplantation-Preliminary Report.
Kotowski M et al. Transplantation proceedings 2018 Jun
Ethical, Legal and Social Issues (ELSI)
- Are Payers Ready To Address The Financial Challenges Associated With Gene Therapy?
Health Affairs Blog, June 28, 2018 - Personalized reproductive medicine: regulatory considerations.
Jarow Jonathan P et al. Fertility and sterility 2018 Jun 109(6) 964-967 - Science Wants Your Data
MK Baker, Five Thirty Eight, June 25, 2018 - Ethics of dead participants: policy recommendations for biobank research.
Ursin Lars et al. Journal of medical ethics 2018 Jun - Insurance coverage for genomic tests.
Phillips Kathryn A et al. Science (New York, N.Y.) 2018 Apr 360(6386) 278-279 - Genomic information and a person's right not to know: A closer look at variations in hypothetical informational preferences in a German sample.
Flatau Laura et al. PloS one 2018 13(6) e0198249 - Epigenetic Discrimination: Emerging Applications of Epigenetics Pointing to the Limitations of Policies Against Genetic Discrimination.
Dupras Charles et al. Frontiers in genetics 2018 9202 - Ethical Guidelines for Genomic Research in Africa.
Friedrich M J et al. JAMA 2018 Jun 319(23) 2371
General Practice
- Know your NGS test before you order it
TGMI, June 21, 2018 - Introduction: Personalized medicine: what is it and what are the challenges?
Sigman Mark et al. Fertility and sterility 2018 Jun 109(6) 944-945 - Genomics-informed weight management in primary care: anticipated public interest.
Persky Susan et al. Personalized medicine 2018 Jun - Biomarker imprecision in precision medicine.
Pritzker Kenneth et al. Expert review of molecular diagnostics 2018 Jun - Internet Versus Virtual Reality Settings for Genomics Information Provision.
Persky Susan et al. Cyberpsychology, behavior and social networking 2018 Jun - Potentials and Challenges of the Health Data Cooperative Model.
van Roessel Ilse et al. Public health genomics 2018 Jun 1-11 - Circulating Biomarkers In Migraine. New Opportunities For Precision Medicine.
Ferroni Patrizia et al. Current medicinal chemistry 2018 Jun - Personalized medicine: motivation, challenges, and progress.
Goetz Laura H et al. Fertility and sterility 2018 Jun 109(6) 952-963 - The development and validation of clinical exome-based panels using ExomeSlicer: Considerations and proof of concept using an Epilepsy panel.
Niazi Rojeen et al. The Journal of molecular diagnostics : JMD 2018 Jun - Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing-Based Assays for Cancer.
Callenberg Keith M et al. The Journal of molecular diagnostics : JMD 2018 Jun - What will follow the first hundred thousand genomes in the NHS?
Grant Malcolm et al. Personalized medicine 2018 Jun - Physician Knowledge of Human Genetic Variation, Beliefs About Race and Genetics, and Use of Race in Clinical Decision-making.
Sellers Sherrill L et al. Journal of racial and ethnic health disparities 2018 Jun
Heart, Lung, Blood and Sleep Diseases
- Mendelian Randomization Evidence for Cardiovascular Precision Medicine.
O'Donnell Christopher J et al. JAMA cardiology 2018 Jun - Associations of Combined Genetic and Lifestyle Risks With Incident Cardiovascular Disease and Diabetes in the UK Biobank Study
MA Said et al, JAMA Cardiology, June 27, 2018 - Universal screening at age 1-2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis.
McKay Ailsa J et al. Atherosclerosis 2018 Jun - Genetic Risk Factors and Inhibitor Development in Hemophilia: What Is Known and Searching for the Unknown.
Margaglione Maurizio et al. Seminars in thrombosis and hemostasis 2018 Jun - Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.
Raffield Laura M et al. PLoS genetics 2018 14(3) e1007293 - [Genetic testing to prevent sudden cardiac death].
Stallmeyer B et al. Der Internist 2018 Jun - Achieved LDL cholesterol levels in patients with heterozygous familial hypercholesterolemia: A model that explores the efficacy of conventional and novel lipid-lowering therapy.
Hartgers Merel L et al. Journal of clinical lipidology 2018 Apr - Will precision medicine become an effective tool for airway disease?
Shrimanker Rahul et al. Personalized medicine 2018 Jun - Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening.
Longo Umile Giuseppe et al. British medical bulletin 2018 Jun - [Modern genetic counselling : Practical aspects exemplified by hypertrophic cardiomyopathy].
Czepluch F et al. Der Internist 2018 Jun
Newborn Screening
- Newborn screening for homocystinurias: recent recommendations versus current practice.
Keller R et al. Journal of inherited metabolic disease 2018 Jun - Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Nourizadeh Maryam et al. Scandinavian journal of immunology 2018 Jun e12699
Pharmacogenomics
- Clustering of ABCB1 and CYP2C19 Genetic Variants Predicts Risk of Major Bleeding and Thrombotic Events in Elderly Patients with Acute Coronary Syndrome Receiving Dual Antiplatelet Therapy with Aspirin and Clopidogrel.
Galeazzi Roberta et al. Drugs & aging 2018 Jun - Advancing Pharmacy Service using Big Data - Are We Fully Utilising the Big Data's Potential Yet?
See Hui-Qi et al. Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques 2018 21(1) 217-221 - Modern molecular study of weight gain related to antidepressant treatment: clinical implications of the pharmacogenetic testing.
Ageu Luminita Stefania et al. Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2018 59(1) 165-173 - Application of pharmacogenetics in clinical practice: problems and solutions.
Baskys Andrius et al. Journal of neural transmission (Vienna, Austria : 1996) 2018 Jun
Reproductive Health
- Maternal age trends support uptake of non-invasive prenatal testing (NIPT) in the low-risk population.
Chen Kelly M et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Jun 1-4 - Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion.
et al. Fertility and sterility 2018 Jun 109(6) 989-992 - Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.
Koczok Katalin et al. Prenatal diagnosis 2018 Jun - Effect of next-generation sequencing in preimplantation genetic testing on live birth ratio.
Liss Joanna et al. Reproduction, fertility, and development 2018 Jun
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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