Publication Date: Sep 20, 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
- Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.
Fontana L et al. Epigenetics 2018 Sep - Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung Malin et al. Clinical genetics 2018 Sep - Management of Prader-Willi Syndrome (PWS) in adults - what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology.
Góralska Magdalena et al. Endokrynologia Polska 2018 69(4) - Family Genetics Key to Severity of Autism and Other Neurodevelopmental Disorders
GEN News Highlights, September 2018 - Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders
Ny Hoang et al, npj Genomic Medicine, Sepetmber 19, 2018 - Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses.
Brusius-Facchin AnaCarolina et al. Expert review of molecular diagnostics 2018 Sep - Genetic testing for DADA2: How can we avoid missing patients?
Sönmez Hafize Emine et al. European journal of human genetics : EJHG 2018 Sep - Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim Ja Hye et al. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2018 Sep - Surveillance for Emerging Threats to Pregnant Women and Infants: Data for Action
CDC Public Health Grand Rounds, September 18, 2018 - Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders
L Geddes, Mosaic, September 18, 2018 - When should genomic testing be considered for cystic fibrosis?
Wysocki Kenneth et al. Journal of the American Association of Nurse Practitioners 2018 Sep 30(9) 478-479 - New study focuses on the experience of parents of children with Rare Disease
S Eng, Rare Disease Foundation, September 18, 2018
Cancer
- Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review.
Yanes Tatiane et al. European journal of human genetics : EJHG 2018 Sep - Clinical utility of fulvestrant in the treatment of breast cancer: a report on the emerging clinical evidence.
Rocca Andrea et al. Cancer management and research 2018 103083-3099 - Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility?
Douma Kirsten F L et al. Journal of community genetics 2018 Sep - Genomics of adult and pediatric solid tumors.
Rahal Zahraa et al. American journal of cancer research 2018 8(8) 1356-1386 - Controversies among Cancer Registry Participants, Genomic Researchers, and Institutional Review Boards about Returning Participants' Genomic Results.
Edwards Karen L et al. Public health genomics 2018 Sep 1-9 - Copy number profiling of Oncotype DX genes reveals association with survival of breast cancer patients.
Ahmed Washaakh et al. Molecular biology reports 2018 Sep - Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative
JL Calswell et al, JNCI, September 18, 2018 - Use of gene expression profile testing as a prognostic tool in early-stage cutaneous melanoma - compelling but not ready for primetime.
Christensen Luisa et al. Melanoma research 2018 Sep - Next-Generation Evaluation and Treatment of Pediatric Acute Lymphoblastic Leukemia.
Heikamp Emily B et al. The Journal of pediatrics 2018 Sep - Genetic Counseling Recommended for Advanced Prostate Cancer
M Dalton, Prostate Cancer Advisor, September 17, 2018 - Whole Genome Sequencing Reveals Elevated Tumor Mutational Burden and Initiating Driver Mutations in African Men with Treatment-Naive, High-Risk Prostate Cancer.
Jaratlerdsiri Weerachai et al. Cancer research 2018 Sep - Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.
Buckley Alexandra R et al. Genome medicine 2018 Sep 10(1) 69 - Study cracks open the secrets of the cancer-causing BRCA1 gene
S Begley, StatNews, September 12, 2018 - Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
Weber-Lassalle Konstantin et al. Human mutation 2018 Sep - Lung Cancer with a High Tumor Mutational Burden.
et al. The New England journal of medicine 2018 Sep 379(11) 1093-1094 - Lung Cancer with a High Tumor Mutational Burden.
VanderLaan Paul A et al. The New England journal of medicine 2018 Sep 379(11) 1093 - From the Past to the Present: Insurer Coverage Frameworks for Next-Generation Tumor Sequencing.
Trosman Julia R et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2018 21(9) 1062-1068 - Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.
Ten Broeke Sanne W et al. Gastroenterology 2018 155(3) 844-851 - Denied ‘life-extending opportunities’: Black patients are being left out of clinical trials amid wave of new cancer therapies
C Chen et al, StatNews, September 19, 2018 - Raising Awareness of BRCA Mutations Genetic testing may help those at high risk take steps to prevent deadly cancers.
S Gubar, New York Times, September 20, 2018
Chronic Disease
- Pain Awareness Month — September 2018
CDC MMWR, September 13, 2018 - Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent.
Bonnard Adeline et al. European journal of human genetics : EJHG 2018 Sep - Things to consider before taking a genetic test for Alzheimer’s risk
T Rohn, Genetic Literacy Project, September 20, 2018 - Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.
Maugeri Andrea et al. BioMed research international 2018 20187532507 - Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.
Volk Alexander E et al. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2018 30(2) 252-258 - CRISPR/Cas9 genome surgery for retinal diseases.
Xu Christine L et al. Drug discovery today. Technologies 2018 Aug 2823-32 - Genetic polymorphism in psoriasis and its meaning for the treatment efficacy in the future.
Osmola-Mankowska Agnieszka et al. Postepy dermatologii i alergologii 2018 Aug 35(4) 331-337 - [Screening of the SETX gene in sporadic amyotrophic lateral sclerosis patients of Chinese origin].
Zhang H et al. Zhonghua yi xue za zhi 2018 Sep 98(33) 2628-2631 - Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores
N Mullins et al, BioRXIV Preprints, September 2018 - Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten Eveline et al. Clinical genetics 2018 Sep - Prevalence of Chronic Pain and High-Impact Chronic Pain Among Adults — United States, 2016
CDC MMWR, September 14, 2018
Ethical, Legal and Social Issues (ELSI)
- Ethical, Legal, and Regulatory Issues for the Implementation of Omics-Based Risk Prediction of Women's Cancer: Points to Consider.
Lévesque Emmanuelle et al. Public health genomics 2018 Sep 1-8 - Ethical Issues in Contemporary Clinical Genetics.
Braverman Genna et al. Mayo Clinic proceedings. Innovations, quality & outcomes 2018 Jun 2(2) 81-90
General Practice
- The clinical implementation of copy number detection in the age of next generation sequencing.
Hehir-Kwa Jayne Y et al. Expert review of molecular diagnostics 2018 Sep - Increasing genomic literacy among adolescents.
Sabatello Maya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Eno Celeste et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Secondary findings in 421 whole exome-sequenced Chinese children.
Chen Wen et al. Human genomics 2018 Sep 12(1) 42 - Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity.
Casas Kari A et al. Narrative inquiry in bioethics 2018 8(2) 131-135 - Public Health is Striving Towards More Precision
MJ Khoury, CDC Blog, September 17, 2018 - Precision Medicine Comes of Age- After years of research, therapies tailored to the genomes of individual patients are reaching maturity
Scientific American, September 18, 2018 - The preanalytical phase in the era of high-throughput genetic testing. What the future holds.
Lippi Giuseppe et al. Diagnosis (Berlin, Germany) 2018 Jul - Factors predicting reclassification of variants of unknown significance.
Wright Moriah et al. American journal of surgery 2018 Sep - Link the exposome to the genome to improve human health and well-being
A Macherone, Stat News, September 13, 2018 - Using "Big Data" in the Cost-Effectiveness Analysis of Next-Generation Sequencing Technologies: Challenges and Potential Solutions.
Wordsworth Sarah et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2018 21(9) 1048-1053 - The Exposome: Molecules to Populations.
Niedzwiecki Megan M et al. Annual review of pharmacology and toxicology 2018 Aug - The True Cost of Whole Genome Sequencing
Genomes2People, Medium, September 12, 2018 - Could Rush to Genomics Damage Public Health?
M Frellick, Medscape, September 11, 2018 - Precision risk-based screening might maximize benefit and minimize harm.
Esserman Laura J et al. Nature reviews. Clinical oncology 2018 Sep - The physician-patient relationship in the age of precision medicine.
Eyal Gil et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery.
Chou Ann F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - A guide to performing Polygenic Risk Score analyses
SW Choi et al, BioRXIV preprints, September 14, 2018 - Drilling for Insight: Forecasting Phenotype from Genotype.
Torkamani Ali et al. Trends in genetics : TIG 2018 Sep - Enhancing diversity to reduce health information disparities and build an evidence base for genomic medicine.
Hindorff Lucia A et al. Personalized medicine 2018 Sep - Polygenic approaches to detect gene-environment interactions when external information is unavailable.
Lin Wan-Yu et al. Briefings in bioinformatics 2018 Sep - [Prevention of genetic diseases : the return of the family practitioner ?]
Derbez B et al. Revue d'epidemiologie et de sante publique 2018 Sep - CDC Public Health Surveillance Strategy Report: 2014-2018
CDC, September 2018 - Overview of pharmacogenomic testing in clinical practice.
Gross Tonya et al. The mental health clinician 2018 Sep 8(5) 235-241 - Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project.
Christensen Kurt D et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2018 21(9) 1054-1061 - How Blood Will Soon Tell Us Everything
B Gates et al, Wired, September 19, 2018
Heart, Lung, Blood and Sleep Diseases
- Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations.
Subas Trishna et al. Journal of genetic counseling 2018 Sep - Systematic Review of Circulating, Biomechanical, and Genetic Markers for the Prediction of Abdominal Aortic Aneurysm Growth and Rupture.
Groeneveld Menno E et al. Journal of the American Heart Association 2018 Jun 7(13) - Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion.
Sarquella-Brugada Georgia et al. Current cardiology reviews 2018 Sep - Preventable Severe Thalassemia among Children.
Rerkswattavorn Chaiwat et al. Hemoglobin 2018 Sep 1-6 - Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
Evangelou Evangelos et al. Nature genetics 2018 Sep - Opportunities and Challenges in Mendelian Randomization Studies to Guide Trial Design
C O'Donnell et al, JAA Cardiology, September 19, 2018 - Prevalence of Thalassemia among Newborns: A Re-visited after 20 Years of a Prevention and Control Program in Northeast Thailand.
Chaibunruang Attawut et al. Mediterranean journal of hematology and infectious diseases 2018 10(1) e2018054 - A Clinical Decision Support Tool for Familial Hypercholesterolemia Based on Physician Input.
Hasnie Ali A et al. Mayo Clinic proceedings. Innovations, quality & outcomes 2018 Jun 2(2) 103-112 - Hypertension genomics and cardiovascular prevention.
Ng Fu Liang et al. Annals of translational medicine 2018 Aug 6(15) 291 - Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.
Lin Xin-Fu et al. Molecular medicine reports 2018 Sep - The problem of diagnosing von Willebrand's disease
J Battle et al, J Int Med, September 2018 - Barriers to the identification of familial hypercholesterolemia among primary care providers.
Zimmerman John et al. Journal of community genetics 2018 Sep - How to select antiplatelet therapy in patients with acute coronary syndrome, according to platelet function testing or pharmacogenomic testing?
Li Jing et al. International journal of cardiology 2018 Nov 27128 - 5 reasons you could develop heart disease before 50
American Heart Association, September 14, 2018 - Rare Diseases Inform Myocardial Phenotypes for Precision Medicine.
MacRae Calum A et al. Journal of cardiac failure 2018 Sep - NIH launches initiative to accelerate genetic therapies to cure sickle cell disease
NIH, September 13, 2018 - A Collaborative Patient-Focused Approach to Cure Sickle Cell Disease
G Gibbons, HHS Blog, September 13, 2018 - New steps forward for obstructive sleep apnoea in the era of precision medicine.
Peker Yüksel et al. The European respiratory journal 2018 Sep 52(3)
Newborn Screening
- Are we ready for universal genomic sequencing for newborns?
The Lancet et al. Lancet (London, England) 2018 Sep 392(10150) 796 - Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Genetti Casie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep
Pharmacogenomics
- Pharmacogenetic profile and major depressive and/or bipolar disorder treatment: a retrospective, cross-sectional study.
Tonozzi Theresa R et al. Pharmacogenomics 2018 Sep - An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Yitian et al. The pharmacogenomics journal 2018 Sep - User considerations in assessing pharmacogenomic tests and their clinical support tools.
Mukerjee Gouri et al. NPJ genomic medicine 2018 326 - Qualitative user evaluation of a revised pharmacogenetic educational toolkit.
Mills Rachel et al. Pharmacogenomics and personalized medicine 2018 11139-146 - The complex genetic and psychosocial influences on polysubstance misuse.
Vaughn Michael G et al. Current opinion in psychology 2018 Sep 2762-66 - Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
Choi Jihoon et al. The pharmacogenomics journal 2018 Sep - Clinical utility of ABCB1 genotyping for preventing toxicity in treatment with irinotecan.
Salvador-Martín Sara et al. Pharmacological research 2018 Sep 136133-139
Reproductive Health
- Noninvasive prenatal diagnosis by cell-free DNA screening for fetomaternal HPA-1a platelet incompatibility.
Ferro Marta et al. Transfusion 2018 Sep - Optimizing use of existing prenatal genetic tests: Screening and diagnostic testing for aneuploidy.
Stoll Katie et al. Seminars in perinatology 2018 Jul - Laboratory considerations for prenatal genetic testing.
Wou Karen et al. Seminars in perinatology 2018 Jul - Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention.
Tizzano Eduardo F et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 Sep - Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial.
Carlson Laura M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep
Event
- NCI Webinar: Cancer Moonshot - Funding Opportunities Related to Inherited Cancer Syndromes
October 11, 2018 - 11th Annual Conference on the Science of Dissemination and Implementation in Health
Academy Health, Washington DC, December 3-5, 2018
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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