Publication Date: Oct 10, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Delays in diagnosis of Duchenne muscular dystrophy: an evaluation of genotypic and sociodemographic factors.
Counterman Kevin J et al. Muscle & nerve 2019 Oct - Implementation of Epilepsy Multi-gene Panel Testing in Ontario, Canada.
Dyment David A et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2019 Oct 1-22 - Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
Jang Se Song et al. Frontiers in neurology 2019 10988 - Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.
McGlynn Julie A et al. Cold Spring Harbor perspectives in medicine 2019 Sep - Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Bower Alexandra et al. Scientific reports 2019 Oct 9(1) 14098 - A pediatric perspective on genomics and prevention in the twenty-first century.
Chaudhari Bimal P et al. Pediatric research 2019 Oct
Cancer
- Prostate Cancer Risk Stratification in Men With a Clinical Suspicion of Prostate Cancer Using a Unique Biparametric MRI and Expression of 11 Genes in Apparently Benign Tissue: Evaluation Using Machine-Learning Techniques.
Montoya Perez Ileana et al. Journal of magnetic resonance imaging : JMRI 2019 Oct - Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.
Staaf Johan et al. Nature medicine 2019 Sep - BRCA testing in unaffected young women in the United States, 2006-2017.
Guo Fangjian et al. Cancer 2019 Sep - Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients.
Ikenoue Tsuneo et al. Journal of human genetics 2019 Oct - A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer.
Sun Li et al. JAMA oncology 2019 Oct - Oncotype DX recurrence score implications for disparities in chemotherapy and breast cancer mortality in Georgia.
Collin Lindsay J et al. NPJ breast cancer 2019 532 - Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
Slavin Thomas P et al. Journal of geriatric oncology 2019 Sep - Genetic testing in ovarian cancer - clinical impact and current practices.
Knabben Laura et al. Hormone molecular biology and clinical investigation 2019 Oct - Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos Elisabeth et al. Clinical genetics 2019 Oct
Chronic Disease
- Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld Emily A et al. The Medical clinics of North America 2019 Nov 103(6) 991-1003 - Approach to Assessment of Parkinson Disease with Emphasis on Genetic Testing.
Payne Katelyn et al. The Medical clinics of North America 2019 Nov 103(6) 1055-1075 - Genome-wide Association of Endophenotypes for Schizophrenia From the Consortium on the Genetics of Schizophrenia (COGS) Study
- European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2019.
Husby Steffen et al. Journal of pediatric gastroenterology and nutrition 2019 Sep
Ethical, Legal and Social Issues (ELSI)
- Genetic Testing: Consent and Result Disclosure for Primary Care Providers.
Faucett W Andrew et al. The Medical clinics of North America 2019 Nov 103(6) 967-976 - How is the trade-off between adverse selection and discrimination risk affected by genetic testing? Theory and experiment.
Bardey David et al. Journal of health economics 2019 Sep 68102223 - How does emerging patent case law in the US and Europe affect precision medicine?
Aboy Mateo et al. Nature biotechnology 2019 Oct 37(10) 1118-1125
General Practice
- Family Health History: The First Genetic Test in Precision Medicine.
Bennett Robin L et al. The Medical clinics of North America 2019 Nov 103(6) 957-966 - Family Screening and Genetic Counseling.
Perge Pál et al. Experientia supplementum (2012) 2019 11129-32 - Evolving Roles of Genetic Counselors in the Clinical Laboratory.
Cho Megan T et al. Cold Spring Harbor perspectives in medicine 2019 Sep - Genetic Counseling and the Central Tenets of Practice.
Biesecker Barbara et al. Cold Spring Harbor perspectives in medicine 2019 Sep - Evaluating Empowerment in Genetic Counseling Using Patient Reported Outcomes.
Yuen Jeanette et al. Clinical genetics 2019 Sep - Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.
Crellin Erin et al. Frontiers in genetics 2019 10789
Heart, Lung, Blood and Sleep Diseases
- Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Demo Erin et al. The Medical clinics of North America 2019 Nov 103(6) 1005-1019 - A Person-Centered Approach to Cardiovascular Genetic Testing.
Platt Julia et al. Cold Spring Harbor perspectives in medicine 2019 Sep - A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment.
Ellis Katrina L et al. Clinical genetics 2019 Sep - Thalassemia and Hemoglobinopathies in an Ethnic Minority Group in Northern Vietnam.
Anh Tuan Mai et al. Hemoglobin 2019 Oct 1-5 - Genetics and pharmacogenetics in the diagnosis and therapy of cardiovascular diseases.
Krasi Geraldo et al. Acta bio-medica : Atenei Parmensis 2019 Sep 90(10-S) 7-19 - Knowledge and Beliefs Regarding Thalassemia in an Urban Population.
Ebrahim Sidra et al. Cureus 2019 Jul 11(7) e5268 - Universal screening for social determinants of health in pediatric sickle cell disease: A quality-improvement initiative.
Power-Hays Alexandra et al. Pediatric blood & cancer 2019 Oct e28006 - Clinical application of chromosome 9p21.3 genotyping in patients with coronary artery disease.
Nikulina Svetlana et al. Experimental and therapeutic medicine 2019 Oct 18(4) 3100-3108 - Molecular and Genetic Testing in Thrombosis and Hemostasis.
Rabbolini David John et al. Seminars in thrombosis and hemostasis 2019 Oct 45(7) 657-660 - Evaluation of Outcomes and Quality of Care in Children with Sickle Cell Disease Diagnosed by Newborn Screening: A Real-World Nation-Wide Study in France.
Brousse Valentine et al. Journal of clinical medicine 2019 Oct 8(10)
Newborn Screening
- Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Fleige Tobias et al. European journal of human genetics : EJHG 2019 Sep - Priorities for Newborn Screening of Genetic Epilepsy.
Hess-Homeier David L et al. Pediatric neurology 2019 Jul
Pharmacogenomics
- Pharmacogenomics: Prescribing Precisely.
Wake Dyson T et al. The Medical clinics of North America 2019 Nov 103(6) 977-990 - A stepwise approach to implementing pharmacogenetic testing in the primary care setting.
Weitzel Kristin Wiisanen et al. Pharmacogenomics 2019 Oct 20(15) 1103-1112 - Pharmacogenetics and the treatment of epilepsy: what do we know?
Božina Nada et al. Pharmacogenomics 2019 Oct 20(15) 1093-1101
Reproductive Health
- Impact of Emerging Technologies in Prenatal Genetic Counseling.
Stevens Blair et al. Cold Spring Harbor perspectives in medicine 2019 Sep - Southeast Asian Pharmacogenomics Research Network (SEAPharm): Current Status and Perspectives.
Chumnumwat Supatat et al. Public health genomics 2019 Oct 1-8 - GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?
Schuurmans Juliette et al. European journal of human genetics : EJHG 2019 Sep - Genetic Counseling and Assisted Reproductive Technologies.
Lilienthal Debra et al. Cold Spring Harbor perspectives in medicine 2019 Sep - Genetic Causes of Female Infertility.
Beke Artur et al. Experientia supplementum (2012) 2019 111367-383 - Monogenic Forms of Male Infertility.
Krausz Csilla et al. Experientia supplementum (2012) 2019 111341-366 - Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo Antonio et al. PLoS genetics 2019 Oct 15(10) e1008409 - Update on Prenatal Laboratory Screening: Joint Commission Required Elements.
Tepper Jared L et al. NeoReviews 2019 Oct 20(10) e584-e591
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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