Publication Date: Sep 10, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Sung Heejong et al. Molecular genetics & genomic medicine 2020 Aug e1400 - Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.
Yusuf Afiqah et al. Journal of genetic counseling 2020 Sep - Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.
Márquez-Caraveo María Elena et al. Journal of autism and developmental disorders 2020 Sep - Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
Keller Stephanie R et al. Journal of child neurology 2020 Sep 883073820946154 - Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Goetz Kerry E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Sep - Family History of Eating Disorder and the Broad Autism Phenotype in Autism.
Barrionuevo Bianca A et al. Autism research : official journal of the International Society for Autism Research 2020 Sep - The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
Fan Fan et al. BMC ophthalmology 2020 Sep 20(1) 361 - Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação Marisa et al. International journal of molecular sciences 2020 Sep 21(17) - Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
Braunisch Matthias Christoph et al. European journal of human genetics : EJHG 2020 Sep - Genomic risk scores for juvenile idiopathic arthritis and its subtypes.
Cánovas Rodrigo et al. Annals of the rheumatic diseases 2020 Sep - Overview of Gene Therapy in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.
Abreu Nicolas J et al. Pediatric pulmonology 2020 Sep
Cancer Genomics
- Precision Medicine for Breast Cancer Utilizing Circulating Tumor DNA: It Is in the Blood.
Miller Emily et al. Current treatment options in oncology 2020 Sep 21(11) 89 - Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Larson Daniel P et al. Archives of pathology & laboratory medicine 2020 Jul - Analysis of KRAS mutations in circulating tumor DNA and colorectal cancer tissue.
Liu Yankui et al. Biotechnic & histochemistry : official publication of the Biological Stain Commission 2020 Sep 1-8 - Delineating the Complex Genomic Landscape of Multiple Myeloma Using Next-Generation Sequencing (NGS): Progress and Potential to Supersede Traditional Genetic Testing.
Garcia-Heras Jaime et al. Journal of the Association of Genetic Technologists 2020 46(3) 131-134 - Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer.
Huang Richard S P et al. The oncologist 2020 Sep - Rate of change in investigational treatment options: An analysis of reports from a large precision oncology decision support effort.
Araya Alejandro et al. International journal of medical informatics 2020 Aug 143104261 - A urine-based Exosomal gene expression test stratifies risk of high-grade prostate Cancer in men with prior negative prostate biopsy undergoing repeat biopsy.
McKiernan James et al. BMC urology 2020 Sep 20(1) 138 - Construction of prognostic predictor by comprehensive analyzing alternative splicing events for colon adenocarcinoma.
Qu Yaqi et al. World journal of surgical oncology 2020 Sep 18(1) 236 - Myeloid/Lymphoid Neoplasms with Eosinophilia and TK Fusion Genes, Version 3.2021, NCCN Clinical Practice Guidelines in Oncology.
Gerds Aaron T et al. Journal of the National Comprehensive Cancer Network : JNCCN 2020 Sep 18(9) 1248-1269
Hereditary Cancer
- Physical activity assessment among men undergoing genetic counseling for inherited prostate cancer: a teachable moment for improved survivorship.
Bruneau Michael et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2020 Sep - Universal tumor screening for lynch syndrome: perspectives of patients regarding willingness and informed consent.
Subramonian Anusree et al. Personalized medicine 2020 Sep - Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
Wokolorczyk Dominika et al. International journal of cancer 2020 Sep - Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Bläker Hendrik et al. International journal of cancer 2020 Sep - Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
Lerner-Ellis Jordan et al. Journal of cancer research and clinical oncology 2020 Sep - Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
de Vries Elsemieke et al. Liver international : official journal of the International Association for the Study of the Liver 2020 Sep - Racial differences in genomic testing and receipt of endocrine therapy in early-stage breast cancer.
Ko Naomi Y et al. Breast cancer research and treatment 2020 Sep
Chronic Disease
- Behçet disease (BD) and BD-like clinical phenotypes: NF-kB pathway in mucosal ulcerating diseases.
Perazzio Sandro F et al. Scandinavian journal of immunology 2020 Sep e12973 - Predicting progression to advanced age-related macular degeneration from clinical, genetic and lifestyle factors using machine learning.
Ajana Soufiane et al. Ophthalmology 2020 Sep
Ethical, Legal and Social Issues (ELSI)
- Heritable Genome Editing Not Yet Ready to Be Tried Safely and Effectively in Humans; Initial Clinical Uses, If Permitted, Should Be Limited to Serious Single-Gene Diseases
- Ethics parallel research: an approach for (early) ethical guidance of biomedical innovation.
Jongsma Karin R et al. BMC medical ethics 2020 Sep 21(1) 81
General Practice
- Genetic counseling service delivery models: A study of genetic counselors' interests, needs, and barriers to implementation.
Boothe Emily et al. Journal of genetic counseling 2020 Sep - Genetic mutations associated with susceptibility to perioperative complications in a longitudinal biorepository with integrated genomic and electronic health records.
Douville Nicholas J et al. British journal of anaesthesia 2020 Sep - Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.
Reble Emma et al. Human genetics 2020 Sep - Precision Health and Nursing: Seeing the Familiar in the Foreign.
Dewell Sarah et al. The Canadian journal of nursing research = Revue canadienne de recherche en sciences infirmieres 2020 Sep 52(3) 199-208
Heart, Lung, Blood and Sleep Diseases
- Lifestyle Moderates Genetic Risk of Venous Thromboembolism: The ARIC Study.
Evans Christina et al. Arteriosclerosis, thrombosis, and vascular biology 2020 Sep ATVBAHA120314668 - Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program.
Raal Frederick J et al. Arteriosclerosis, thrombosis, and vascular biology 2020 Sep ATVBAHA120315040 - An assessment of the continuing medical education needs of US physicians in the management of patients with beta thalassemia.
Stacy Sylvie et al. Annals of hematology 2020 Sep - Recommendations for Pregnancy in Rare Inherited Anemias.
Taher Ali T et al. HemaSphere 2020 Aug 4(4) e446 - Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh Roddy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep - Genetics, prevalence, screening and confirmation of primary aldosteronism: a position statement and consensus of the Working Group on Endocrine Hypertension of The European Society of Hypertension.
Mulatero Paolo et al. Journal of hypertension 2020 Oct 38(10) 1919-1928 - Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Al-Hassnan Zuhair N et al. Circulation. Genomic and precision medicine 2020 Sep - Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.
Saw Jacqueline et al. Nature communications 2020 Sep 11(1) 4432 - Gaps in the Care of Familial Hypercholesterolaemia in Australia: First Report From the National Registry.
Pang Jing et al. Heart, lung & circulation 2020 Aug - Clinical Utility of a Phenotype Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.
Mattivi Connor L et al. Circulation. Genomic and precision medicine 2020 Sep
Pharmacogenomics
- Using a pharmacogenetic clinical decision support system to improve psychopharmacotherapy dosing in patients with affective disorders.
Zastrozhin Michael et al. Drug metabolism and personalized therapy 2020 Sep - The PNPLA3 rs738409 variant can increase the risk of liver toxicity in multiple sclerosis patients treated with beta-interferon.
Capone Fioravante et al. Clinical neurology and neurosurgery 2020 Aug 197106166 - Clinical implementation of pharmacogenetics and personalized drug prescription based on e-health: the MedeA initiative.
LLerena Adrián et al. Drug metabolism and personalized therapy 2020 Sep
Reproductive Health
- How geneticists think about Differences/Disorders of Sexual Development (DSD): A conversation.
Byers Heather M et al. Journal of pediatric urology 2020 Aug - Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making.
Reumkens Kelly et al. Journal of community genetics 2020 Sep - First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study.
Kagan Karl Oliver et al. Fetal diagnosis and therapy 2020 Sep 1-11
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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