Published on 11/04/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Experiences of adolescents and their parents after receiving adolescents' genomic screening results.
Lillie Natasha et al. Journal of genetic counseling 2021 -
Access to genetic testing for rare diseases: Existing gaps in public-facing information.
Robillard Julie M et al. World medical & health policy 2021 13(3) 518-525 -
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best Sunayna et al. Journal of medical genetics 2021 -
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: Clinical and genetic counseling implications.
Cook Courtney B et al. Cold Spring Harbor molecular case studies 2021 -
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau Julia et al. European journal of human genetics : EJHG 2021
Cancer Genomics
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EGFR detection by liquid biopsy: ripe for clinical usage.
Batra Ullas et al. Future oncology (London, England) 2021 -
Analysis of Sociodemographic, Clinical, and Genomic Factors Associated With Breast Cancer Mortality in the Linked Surveillance, Epidemiology, and End Results and Medicare Database.
Robinson Timothy J et al. JAMA network open 2021 4(10) e2131020 -
Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely?
Kawata Eri et al. International journal of laboratory hematology 2021 -
Gene-Guided Treatment Decision-Making in Non-Small Cell Lung Cancer - A Systematic Review.
Saarenheimo Jatta et al. Frontiers in oncology 2021 11754427 -
RNA-seq profile of African American men with a clinically localized prostate cancer.
Nagaya Naoya et al. Prostate international 2021 9(3) 125-131 -
Can Multigene Testing Provide Additional Risk Stratification for Patients Considered Eligible for Accelerated Partial Breast Irradiation?
Pawloski K R et al. International journal of radiation oncology, biology, physics 2021 111(3S) e208-e209 -
Machine Learning-Based Prediction of Survival Outcome in Lower Grade Gliomas With Combined Clinical and DNA Methylation Data.
Mladkova N et al. International journal of radiation oncology, biology, physics 2021 111(3S) e115 -
The 70-gene signature test as a prognostic and predictive biomarker in patients with invasive lobular breast cancer.
Jenkins J Asher et al. Breast cancer research and treatment 2021 -
Construction and Verification of a Hypoxia-Stemness-Based Gene Signature for Risk Stratification in Esophageal Cancer.
Tang Kang et al. Medical science monitor : international medical journal of experimental and clinical research 2021 27e934359 -
Performance of a Genomic Classifier (GC) Within a Phase 3 Randomized Trial of Dose Escalated Salvage Radiotherapy (SRT) After Radical Prostatectomy (RP).
Pra A Dal et al. International journal of radiation oncology, biology, physics 2021 111(3S) S49-S50 -
How Does Invasive Breast Cancer Oncotype Dx Recurrence Score on Core Needle Biopsies Influence Neoadjuvant Treatment Decision? A Descriptive Study.
Nam Gahie et al. Technology in cancer research & treatment 2021 2015330338211035037 -
Comparison of Afirma GEC and GSC to Nodules Without Molecular Testing in Cytologically Indeterminate Thyroid Nodules.
Polavarapu Preethi et al. Journal of the Endocrine Society 2021 5(11) bvab148 -
Impact of the 21-Gene Recurrence Score Assay on the Treatment of Estrogen Receptor-Positive, HER2-Negative, Breast Cancer Patients With 1-3 Positive Nodes: A Prospective Clinical Utility Study.
LeVasseur Nathalie et al. Clinical breast cancer 2021 -
NCCN Risk Reclassification in Black men with low and intermediate risk Prostate Cancer after genomic testing.
Seiden Benjamin et al. Urology 2021 -
[Difference analysis of somatic mutations between deficient mismatch repair and proficient mismatch repair gene related with colorectal cancer].
Tang X J et al. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2021 43(10) 1088-1093
Hereditary Cancer
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Effectiveness of a surveillance program of upper endoscopy for upper gastrointestinal cancers in Lynch syndrome patients.
Ceravolo Amanda H et al. International journal of colorectal disease 2021 -
What would I do? Perspectives on the factors affecting decisions around Lynch syndrome genetic testing and results sharing for high-risk colorectal cancer patients.
Tiernan Gabriella et al. Psycho-oncology 2021 -
A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO.
Blackford Amanda L et al. British journal of cancer 2021 -
Contribution of Family History of Head and Neck Cancer and Associated Risk Factors: Analysis of an Internet Based Risk Assessment Tool.
O'Keefe R et al. International journal of radiation oncology, biology, physics 2021 111(3S) e376 -
Determination of test performance of two contemporary screening tests for Lynch syndrome in endometrial cancer: A clinical trial.
Gudgeon James M et al. Gynecologic oncology 2021 -
Clinical Characteristics of Pancreatic and Biliary Tract Cancers Associated with Lynch Syndrome.
Takamizawa Shigemasa et al. Journal of hepato-biliary-pancreatic sciences 2021 -
Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer.
Ro Vicky et al. JCO oncology practice 2021 OP2100322
Chronic Disease
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Potential evidence for epigenetic biomarkers of metabolic syndrome in human whole blood in Latinos.
Urashima Keane et al. PloS one 2021 16(10) e0259449 -
The Assessment of Selected miRNA Profile in Familial Mediterranean Fever.
Kahraman Cigdem Yuce et al. BioMed research international 2021 20216495700
Ethics/Policy/Law
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Early Detection of AD Biomarkers and the Ethical Criteria for Screening Programs.
Tromp Krista et al. AJOB neuroscience 2021 12(4) 231-233
Practice
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Are We Prepared for Precision Public Health? An Examination of Genomics Content in Graduate Public Health Programs.
Niemchick Karen L et al. Public health reports (Washington, D.C. : 1974) 2021 333549211055708 -
Personalized Health Care and Public Health in the Digital Age.
Chén Oliver Y et al. Frontiers in digital health 2021 3595704 -
Controlling my genome with my smartphone: first clinical experiences of the PROMISE system.
Amr Ali et al. Clinical research in cardiology : official journal of the German Cardiac Society 2021 -
Quantifying the Impact of Capacity Constraints in Economic Evaluations: An Application in Precision Medicine.
Wright Stuart J et al. Medical decision making : an international journal of the Society for Medical Decision Making 2021 272989X211053792 -
Rapid Transition to Telemedicine During the COVID-19 Pandemic: Medical Genetics Experience.
Zoran Sara et al. WMJ : official publication of the State Medical Society of Wisconsin 2021 120(3) 218-221 -
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot Vyne et al. European journal of human genetics : EJHG 2021 -
"Right diet for the right person": a focus group study of nutritionist-dietitians' perspectives on nutritional genomics and gene-based nutrition advice.
Nacis Jacus S et al. Journal of community genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Why is AAV FVIII gene therapy not approved by the US Food and Drug Administration yet?
Arruda Valder R et al. Blood advances 2021 5(20) 4313 -
Derivation and Validation of Genome-Wide Polygenic Score for Ischemic Heart Failure.
Paranjpe Ishan et al. Journal of the American Heart Association 2021 e021916 -
Toward a Conversational Agent to Support the Self-Management of Adults and Young Adults With Sickle Cell Disease: Usability and Usefulness Study.
Issom David-Zacharie et al. Frontiers in digital health 2021 3600333 -
Hemophilia Gene Therapy Value Assessment: Methodological Challenges and Recommendations.
Garrison Louis P et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2021 24(11) 1628-1633 -
Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.
Izar Maria Cristina de Oliveira et al. Arquivos brasileiros de cardiologia 2021 117(4) 782-844 -
Statin treatment and LDL-cholesterol treatment goal attainment among individuals with familial hypercholesterolaemia in primary care.
Iyen Barbara et al. Open heart 2021 8(2) -
Return of Results Policies for Genomic Research: Current Practices & The Hearts in Rhythm Organization Approach.
Comber Drake A et al. The Canadian journal of cardiology 2021 -
Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection.
Amrani-Midoun Asma et al. Circulation. Genomic and precision medicine 2021 CIRCGEN121003393 -
Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.
Allard Pierre et al. Haematologica 2021 -
Profile of Medicaid enrollees with sickle cell disease: A high need, high cost population.
Grady April et al. PloS one 2021 16(10) e0257796
Newborn Screening
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Genetic screening techniques and diseases for neonatal genetic diseases.
Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435 -
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective.
van Dijk Tessa et al. Frontiers in pediatrics 2021 9706394
Pharmacogenomics
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Evaluation of the Veterans Affairs Pharmacogenomic Testing for Veterans (PHASER) clinical program at initial test sites.
Dong Olivia M et al. Pharmacogenomics 2021 -
The need of the clinical implementation of pharmacogenetics in European health services for routine drug prescription. What's next? An urgent clinical unmet need for patients.
Taron Miquel et al. Drug metabolism and personalized therapy 2021 35(4) -
Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example.
Hatoum Alexander S et al. Drug and alcohol dependence 2021 229(Pt B) 109115
Reproductive Health
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Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening.
Brown Emily M et al. Journal of genetic counseling 2021