Publication Date: Dec 14, 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- An exposome perspective: Early-life events and immune development in a changing world.
Renz Harald et al. The Journal of allergy and clinical immunology 2017 Jul 140(1) 24-40 - Treating Specific Variants Causing Cystic Fibrosis.
Cutting Garry R et al. JAMA 2017 Dec 318(21) 2130-2131 - Genome-wide sequencing technologies: A primer for paediatricians
RZ Hayeems et al. Pediatrics & Child Health, Dec 2017 - Treatment Advances in Spinal Muscular Atrophy.
Bharucha-Goebel Diana et al. Current neurology and neuroscience reports 2017 Oct 17(11) 91 - Nusinersen for Spinal Muscular Atrophy: Are We Paying Too Much for Too Little?
Prasad Vinay et al. JAMA pediatrics 2017 Dec - Medical Science Should Learn To Tap The Urgency Of Families Desperate To Save Loved Ones
I Kohane, WBUR, Dec 11, 2017 - Antisense oligonucleotides: the next frontier for treatment of neurological disorders.
Rinaldi Carlo et al. Nature reviews. Neurology 2017 Dec - Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.
Baynam Gareth et al. Advances in experimental medicine and biology 2017 1031511-520 - Personalized Medicine: What's in it for Rare Diseases?
Schee Genannt Halfmann Sebastian et al. Advances in experimental medicine and biology 2017 1031387-404 - Breakthrough answers on rare disorder that delays children's first word
A Dou, Sydney Morning Herald, Dec 12, 2017 - Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela Pedro et al. BioMed research international 2017 20178327980 - Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.
Taruscio Domenica et al. Advances in experimental medicine and biology 2017 103125-38 - Prospects of Pluripotent and Adult Stem Cells for Rare Diseases.
García-Castro Javier et al. Advances in experimental medicine and biology 2017 1031371-386 - A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee Eric et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - Predictive Psychiatric Genetic Testing in Minors: An Exploration of the Non-Medical Benefits.
Manzini Arianna et al. Journal of bioethical inquiry 2017 Dec - Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Berry-Kravis Elizabeth M et al. Nature reviews. Drug discovery 2017 Dec
Cancer
- Circulating cell-free DNA and circulating tumor cells, the "liquid biopsies" in ovarian cancer.
Cheng Xianliang et al. Journal of ovarian research 2017 Nov 10(1) 75 - Personalized cancer therapy: leveraging a knowledge base for clinical decision-making.
Ileana Dumbrava Ecaterina et al. Cold Spring Harbor molecular case studies 2017 Dec - BRCA 1 and 2 mutation status: the elephant in the room during oncofertility counseling for young breast cancer patients.
Paluch-Shimon S et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Dec - Telomeres and Telomerase in Hematopoietic Dysfunction: Prognostic Implications and Pharmacological Interventions.
Vasko Theresa et al. International journal of molecular sciences 2017 Oct 18(11) - Considering BRCA Genes: Knowledge Improves Outcomes
UC TV video, November 2017 - Recommendations for genetic counseling and genetic testing for hereditary prostate cancer
Medical Xpress, Dec 13, 2017 - Oral Microbiota Indicates Possible Link Between Periodontal Disease and Esophageal Cancer
ASCO Post, Dec 5, 2017 - A Milestone for CAR T Cells.
Tran Eric et al. The New England journal of medicine 2017 Dec - Genetic epidemiology of ovarian cancer and prospects for polygenic risk prediction.
Jones Michelle R et al. Gynecologic oncology 2017 Dec 147(3) 705-713 - Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
Giri Veda N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Dec JCO2017741173 - Breast cancer: The translation of big genomic data to cancer precision medicine.
Low Siew-Kee et al. Cancer science 2017 Dec - Using the Seven Bridges Cancer Genomics Cloud to Access and Analyze Petabytes of Cancer Data.
Malhotra Raunaq et al. Current protocols in bioinformatics 2017 Dec 6011.16.1-11.16.32 - Next-generation sequencing: recent applications to the analysis of colorectal cancer.
Del Vecchio Filippo et al. Journal of translational medicine 2017 Dec 15(1) 246 - An evaluation of the challenges to developing tumour BRCA1 and BRCA2 testing methodologies for clinical practice.
Ellison Gillian et al. Human mutation 2017 Dec - Toward personalized treatment in Waldenström macroglobulinemia.
Castillo Jorge J et al. Hematology. American Society of Hematology. Education Program 2017 Dec 2017(1) 365-370 - A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome.
Coelho Helen et al. BMC cancer 2017 Dec 17(1) 836 - Combined Annotation Dependent Depletion (CADD) Score for BRCA1/2 variants in patients with Breast and/or Ovarian Cancer.
Nakagomi Hiroshi et al. Cancer science 2017 Dec - Houston Methodist Variant Viewer: An Application to Support Clinical Laboratory Interpretation of Next-generation Sequencing Data for Cancer.
Christensen Paul A et al. Journal of pathology informatics 2017 844 - Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.
Macklin Sarah et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - Adaptation of couples living with a high risk of breast/ovarian cancer and the association with risk-reducing surgery.
Shapira Rachel et al. Familial cancer 2017 Dec - Precision-medicine strategies in oncology: mixed approaches to matched therapies.
Borcoman Edith et al. Future oncology (London, England) 2017 Dec - Relationship of histologic grade and histologic subtype with oncotype Dx recurrence score; retrospective review of 863 breast cancer oncotype Dx results.
Singh Kamaljeet et al. Breast cancer research and treatment 2017 Dec - NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017.
Gupta Samir et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Dec 15(12) 1465-1475 - ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research.
Madhavan Subha et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2018 23247-258 - Systematic review of the empirical investigation of resources to support decision-making regarding BRCA1 and BRCA2 genetic testing in women with breast cancer.
Grimmett Chloe et al. Patient education and counseling 2017 Nov - Combination of primary tumor location and mismatch repair status guides adjuvant chemotherapy in stage II colon cancer.
Yang Lin et al. Oncotarget 2017 Nov 8(58) 99136-99149 - How can molecular abnormalities influence our clinical approach.
Wei W et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Nov 28(suppl_8) viii16-viii24 - The mutational landscape of chronic lymphocytic leukemia and its impact on prognosis and treatment.
Gaidano Gianluca et al. Hematology. American Society of Hematology. Education Program 2017 Dec 2017(1) 329-337
Chronic Disease
- Epigenetics in diabetic nephropathy, immunity and metabolism.
Keating Samuel T et al. Diabetologia 2018 Jan 61(1) 6-20 - Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution.
Abadi Arkan et al. American journal of human genetics 2017 Dec 101(6) 925-938 - Concise Review: The Use of Stem Cells for Understanding and Treating Huntington's Disease.
Connor Bronwen et al. Stem cells (Dayton, Ohio) 2017 Nov - Telomeres, Aging and Exercise: Guilty by Association?
Chilton Warrick et al. International journal of molecular sciences 2017 Nov 18(12) - RNA-Seq reveals a novel therapeutic strategy for ALS treatment
RNA Seq Blog, Dec 12, 2017 - Molecular memories: is genomics key to a dementia cure?
Genomics Education UK, Dec 6, 2017 - Hope & hype on unpublished Huntington’s Disease trial splashy news
P Knoepfler lab blog, Dec 13, 2017 - Huntington's breakthrough may stop disease
J Gallagher, BBC News, Dec 11, 2017 - Centenarians as a model to discover genetic and epigenetic signatures of healthy ageing.
Puca Annibale Alessandro et al. Mechanisms of ageing and development 2017 Oct - Monogenic Hypertension in Children: A Review With Emphasis on Genetics.
Aggarwal Anjali et al. Advances in chronic kidney disease 2017 Nov 24(6) 372-379 - Success! ASO drug reduces levels of mutant protein
J Carroll, HD Buzz, Dec 11, 2017
Ethical, Legal and Social Issues (ELSI)
- Impact of nationwide health insurance coverage for non-invasive prenatal testing.
Vinante Valentina et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2017 Dec - Direct-to-consumer genetic testing and privacy,
Office of Privacy Commissioner of Canada, December 17 - Ethical frameworks for obtaining informed consent in tumour profiling: an evidence-based case for Singapore.
Bylstra Yasmin et al. Human genomics 2017 Dec 11(1) 31 - Enlisting the willing: A study of healthcare professional-initiated and opt-in biobanking consent reveals improvement opportunities throughout the registration process.
Fradgley Elizabeth A et al. European journal of cancer (Oxford, England : 1990) 2017 Dec 8936-41 - “Better Not to Know?”: Justifiable Limits on the Right to Information in the Realm of DTC Genetic Testing. An Analysis of the European and Spanish Legal Framework.
Martínez Otero Juan María et al. European journal of health law 2017 Apr 24(2) 175-97 - Intellectual property considerations for molecular diagnostic development with emphasis on companion diagnostics.
Glorikian Harry et al. Expert opinion on therapeutic patents 2017 Dec 1-6
Practice
- How Health IT Advancements Make Genomic Medicine a Reality
J Van Wegenen, Health IT, Dec 2017 - Towards utilization of the human genome and microbiome for personalized nutrition.
Bashiardes Stavros et al. Current opinion in biotechnology 2017 Dec 5157-63 - Communication in genetic medicine
E Amsen, THe TGMI Blog Post, Dec 6, 2017 - Gather family health history this holiday,
Bonner County Daily Bee, December 6, 2017 - Precision medicine is rapidly advancing. Precision public health could be next
M Thielking, Stat News, Decmeber 13, 2017 - 4 key things to know about the possibilities, pitfalls of gene editing
S Buckles, Mayo Clinic Blog, Dec 12, 2017 - Time for a Tailor? Gene-editing systems may need to be customized to patients' individual genomes
N Fliesler, arvard Medical School. Dec 12, 2017 - Challenges and recommendations for epigenomics in precision health.
Carter Ava C et al. Nature biotechnology 2017 Dec 35(12) 1128-1132 - Drug development in the era of precision medicine.
Dugger Sarah A et al. Nature reviews. Drug discovery 2017 Dec - Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam Gareth et al. Advances in experimental medicine and biology 2017 103155-94 - Opportunities and Challenges for Environmental Exposure Assessment in Population-Based Studies.
Patel Chirag J et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Sep 26(9) 1370-1380 - Diagnostic utility of telomere length measurement in a hospital setting
JK Alder et al, BioRXIV, Dec 2017 - Crispr Therapeutics Plans Its First Clinical Trial for Genetic Disease,
by Megan Molteni, Wired, December 11, 2015 - DNA Dipstick: Diagnose disease with greater ease
B Baker, Plos Blogs, Nov 2017 - Future-proofing precision medicine: IT leaders, clinicians and patients must prepare for changes
M Miliard, HealthcareIT News, November 2017 - DNA Base Editing Could Reverse Most Disease-Causing Point Mutations.
Abbasi Jennifer et al. JAMA 2017 Dec 318(22) 2173 - Yale school of public health symposium on lifetime exposures and human health: the exposome; summary and future reflections.
Johnson Caroline H et al. Human genomics 2017 Dec 11(1) 32 - Barriers to clinical adoption of next-generation sequencing: a policy Delphi panel's solutions.
Messner Donna A et al. Personalized medicine 2017 14(4) 339-354 - Age and perceived risks and benefits of preventive genomic screening.
Waltz Margaret et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory.
García-Giménez José Luis et al. Critical reviews in clinical laboratory sciences 2017 Dec 1-22 - Genetic sequencing is the future of medicine
C Venter, Washington Post, Dec 13, 2017
Heart, Lung, Blood and Sleep Diseases
- Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology.
Basso Cristina et al. Virchows Archiv : an international journal of pathology 2017 Dec 471(6) 691-705 - Genetic Testing in Pediatric Left Ventricular Noncompaction.
Miller Erin M et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics.
Vitali Cecilia et al. Current cardiology reports 2017 Nov 19(12) 132 - Utility of a Precision Medicine Test in Elderly Adults with Symptoms Suggestive of Coronary Artery Disease.
Ladapo Joseph A et al. Journal of the American Geriatrics Society 2017 Dec - Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine.
Hersh Craig P et al. F1000Research 2017 62049 - The role of epigenetics in cardiovascular health and aging: a focus on physical activity and nutrition.
Wallace Robert G et al. Mechanisms of ageing and development 2017 Nov - Liver fat content, non-alcoholic fatty liver disease, and ischaemic heart disease: Mendelian randomization and meta-analysis of 279013 individuals
D Kobber et al, Eur Heart J, Dec 8, 2017 - Hypertrophic Cardiomyopathy-Past, Present and Future.
Liew Alphonsus C et al. Journal of clinical medicine 2017 Dec 6(12) - Is it time to retire cholesterol tests?
M Leslie, Science, Dec 6, 2017 - Familial hypercholesterolaemia.
Defesche Joep C et al. Nature reviews. Disease primers 2017 Dec 317093 - Improving Emergency Department-Based Care of Sickle Cell Pain.
Glassberg Jeffrey A et al. Hematology. American Society of Hematology. Education Program 2017 Dec 2017(1) 412-417 - PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.
El Khoury Petra et al. Current atherosclerosis reports 2017 Oct 19(12) 49 - No genetic association detected with mepolizumab efficacy in severe asthma.
Condreay Lynn et al. Respiratory medicine 2017 Nov 132178-180
Newborn Screening
- Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.
Feuchtbaum Lisa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - Making Sense of Newborn Screening Cut-off Values
APHL Blog Post, 2017 - Cost-Effectiveness Methods and Newborn Screening Assessment.
Castilla-Rodríguez I et al. Advances in experimental medicine and biology 2017 1031267-281 - Newborn Screening: Beyond the Spot.
Urv Tiina K et al. Advances in experimental medicine and biology 2017 1031323-346 - Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu Yung-Hsiu et al. Journal of human genetics 2017 Nov
Pharmacogenomics
- Pharmacogenomics: Time to re-think its role in Precision Medicine.
Willis JA, et al. Annals of Oncology Dec 11 2017 - Liver fat content, non-alcoholic fatty liver disease, and ischaemic heart disease: Mendelian randomization and meta-analysis of 279?013 individuals.
Lauridsen Bo Kobberø et al. European heart journal 2017 Dec - Leveraging precision medicine to mitigate medication-safety challenges.
Gammal Roseann S et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2017 Dec 74(24) 2031-2032 - Pharmacokinetics and pharmacogenetics of anti-tubercular drugs: a tool for treatment optimization?
Motta Ilaria et al. Expert opinion on drug metabolism & toxicology 2017 Dec
Reproductive Health
- Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.
Li Yonghong et al. Molecular diagnosis & therapy 2017 Dec - Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing.
Lindquist Anthea et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Dec
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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