Published on 04/15/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital.
Wittowski Claire L et al. Archives of pathology & laboratory medicine 2021 -
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain Dominique P et al. Molecular genetics & genomic medicine 2021 e1666 -
Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.
Ameratunga Rohan et al. Clinical reviews in allergy & immunology 2021 -
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Thompson-Stone Robert et al. Molecular genetics and metabolism 2021 -
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park Jong Eun et al. Orphanet journal of rare diseases 2021 16(1) 166
Cancer Genomics
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Identifying treatment options for BRAFV600 wild-type metastatic melanoma: A SU2C/MRA genomics-enabled clinical trial.
LoRusso Patricia M et al. PloS one 2021 16(4) e0248097 -
Impact of a Genomic Test on Treatment Decision in a Predominantly African American Population With Favorable-Risk Prostate Cancer: A Randomized Trial.
Murphy Adam B et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2002997 -
Adherence to NCCN ALK testing guidelines for patients with advanced non-small cell lung cancer in US Community Medical Centers.
Bernicker Eric H et al. The oncologist 2021 -
Patients' and Oncologists' Knowledge and Expectations Regarding Tumour Multigene Next Generation Sequencing: A Narrative Review.
Shirdarreh Melika et al. The oncologist 2021 -
Clinical Utility of a Cell-Free DNA Assay in Patients With Colorectal Cancer.
Chan Ren-Hao et al. Frontiers in oncology 2021 11589673 -
GC-MS-based metabolomics reveals new biomarkers to assist the differentiation of prostate cancer and benign prostatic hyperplasia.
Wang Wenyu et al. Clinica chimica acta; international journal of clinical chemistry 2021 -
HER2 testing in breast cancers: comparison of assays and interpretation using ASCO/CAP 2013 and 2018 guidelines.
McLemore Lauren E et al. Breast cancer research and treatment 2021
Hereditary Cancer
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Multigene assessment of genetic risk for women for two or more breast cancers.
Weitzel Jeffrey N et al. Breast cancer research and treatment 2021 -
Malignancy risk in individuals with familial adenomatous polyposis receiving biologics and immunomodulators.
Faisal Muhammad Salman et al. Familial cancer 2021 -
Controversies in Hereditary Cancer Management.
AlHilli Mariam M et al. Obstetrics and gynecology 2021 -
Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice.
Meiser Bettina et al. Hereditary cancer in clinical practice 2021 19(1) 24
Ethics/Policy/Law
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Views on genomic research result delivery methods and informed consent: a review.
Vears Danya F et al. Personalized medicine 2021 -
African American Nurses' Perspectives on Genomic Medicine Research.
Hendricks-Sturrup Rachele M et al. AMA journal of ethics 2021 23(3) E240-251 -
Employees' Views and Ethical, Legal, and Social Implications Assessment of Voluntary Workplace Genomic Testing.
Sanghavi Kunal et al. Frontiers in genetics 2021 12643304 -
New ethical challenges in the management of rare pediatric diseases with innovative therapies.
Dufosset M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021
Practice
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Genomics in Patient Care and Workforce Decisions in High-Level Isolation Units: A Survey of Healthcare Workers.
Gerber Jennifer E et al. Health security 2021 -
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee Christopher et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.
Donohue Katherine E et al. Clinical genetics 2021 99(5) 638-649 -
Telomere length and epigenetic age acceleration in adolescents with anxiety disorders.
Cerveira de Baumont Angelica et al. Scientific reports 2021 11(1) 7716 -
Benefits and limitations of telegenetics: A literature review.
Gorrie Anita et al. Journal of genetic counseling 2021
Heart, Lung, Blood and Sleep Diseases
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Global epidemiology of dyslipidaemias.
Pirillo Angela et al. Nature reviews. Cardiology 2021 -
Factors Associated With PCSK9 Inhibitor Initiation Among US Veterans.
Derington Catherine G et al. Journal of the American Heart Association 2021 e019254 -
Familial hypercholesterolaemia: Experience of a tertiary paediatric lipid clinic.
Yeung Jeffrey et al. Journal of paediatrics and child health 2021 -
Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.
Ergül Yakup et al. Anatolian journal of cardiology 2021 25(4) 250-257
Newborn Screening
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Assessment of hearing screening programmes across 47 countries or regions III: provision of childhood hearing screening after the newborn period.
Bussé Andrea M L et al. International journal of audiology 2021 1-8
Pharmacogenomics
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Perspectives from the Society for Pediatric Research: pharmacogenetics for pediatricians.
Tang Girdwood Sonya C et al. Pediatric research 2021 -
Cost-effectiveness analysis of genotyping for HLA-B*15:02 in Indonesian patients with epilepsy using a generic model.
Yuliwulandari Rika et al. The pharmacogenomics journal 2021 -
Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study.
Fjukstad Katrine K et al. The pharmacogenomics journal 2021 -
Pharmacogenomics in the Era of Next Generation Sequencing - from Byte to Bedside.
Russell Laura E et al. Drug metabolism reviews 2021 1-79 -
Strategies and settings of clinical pharmacogenetic implementation: a scoping review of pharmacogenetics programs.
Luczak Tiana et al. Pharmacogenomics 2021
Reproductive Health
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Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions otherthan trisomies 13, 18, and 21 should be offered.
Christiaens Lieve et al. Prenatal diagnosis 2021