Published on 07/22/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genomic frontiers in congenital heart disease.
Morton Sarah U et al. Nature reviews. Cardiology 2021 -
Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder.
Little India D et al. Frontiers in genetics 2021 12693158 -
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu Ning et al. JAMA network open 2021 4(7) e2114155 -
Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals.
Hill Melissa et al. Disability and health journal 2021 101168
Cancer Genomics
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Pembrolizumab Alone or Combined With Chemotherapy in Advanced NSCLC With PD-L1 ≥50%: Results of a Retrospective Study.
Chen Ya et al. Frontiers in oncology 2021 11691519 -
Clinical and molecular characteristics of HER2-low-positive breast cancer: pooled analysis of individual patient data from four prospective, neoadjuvant clinical trials.
Denkert Carsten et al. The Lancet. Oncology 2021 -
Development and Validation of a Simulation Model-Based Clinical Decision Tool: Identifying Patients Where 21-Gene Recurrence Score Testing May Change Decisions.
Jayasekera Jinani et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2100651 -
Mutation Spectrum of EGFR From 21,324 Chinese Patients With Non-Small Cell Lung Cancer (NSCLC) Successfully Tested by Multiple Methods in a CAP-Accredited Laboratory.
Mao Linlin et al. Pathology oncology research : POR 2021 27602726 -
Landscape of Biomarkers in Non-small Cell Lung Cancer Using Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry.
Huang Richard S P et al. Pathology oncology research : POR 2021 27592997 -
Oncologist-Reported Reasons for Not Ordering Multimarker Tumor Panels: Results From a Nationally Representative Survey.
Roberts Megan C et al. JCO precision oncology 2021 5 -
Differential Impact of ALK Mutations in Neuroblastoma.
O'Donohue Tara et al. JCO precision oncology 2021 5 -
High-Throughput Drug Screening and Multi-Omic Analysis to Guide Individualized Treatment for Multiple Myeloma.
Coffey David G et al. JCO precision oncology 2021 5 -
Utility of Serial cfDNA NGS for Prospective Genomic Analysis of Patients on a Phase I Basket Study.
Smyth Lillian M et al. JCO precision oncology 2021 5 -
Identification of a Prognostic Signature Based on the Expression of Genes Related to the Insulin Pathway in Early Breast Cancer.
Gennari Alessandra et al. Breast care (Basel, Switzerland) 2021 16(3) 299-306
Hereditary Cancer
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Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis.
Yin Kanhua et al. JMIR cancer 2021 7(3) e28527 -
A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.
Astiazaran-Symonds Esteban et al. Journal of gastroenterology 2021 -
Development and pilot testing of a training for bilingual community education professionals about hereditary breast and ovarian cancer among Latinas: ÁRBOLES Familiares.
Vadaparampil Susan T et al. Translational behavioral medicine 2021 -
Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort.
Wei Jun et al. The Prostate 2021 -
When to Consider Lynch Syndrome in Non-Colon and Non-Endometrial Malignancies.
Arroyave Aaron J et al. The American surgeon 2021 31348211031835 -
Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome.
Sandoval Renata Lazari et al. JCO global oncology 2021 71141-1150 -
Decision aids for female BRCA mutation carriers: a scoping review protocol.
McGarrigle Sarah A et al. BMJ open 2021 11(7) e045075 -
Clinically actionable findings on surveillance EGD in asymptomatic patients with Lynch syndrome.
Farha Natalie et al. Gastrointestinal endoscopy 2021 -
Endoscopic Management of Ampullary Adenomas in Familial Adenomatous Polyposis Syndrome: A Systematic Review with Pooled Analysis.
Ramai Daryl et al. Digestive diseases and sciences 2021 -
Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer.
Hamilton Jada G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Clinical Germline Testing Results of Men With Prostate Cancer: Patient-Level Factors and Implications of NCCN Guideline Expansion.
Greenberg Samantha E et al. JCO precision oncology 2021 5 -
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
Garrett Alice et al. Journal of medical genetics 2021 -
Implications of Multigene Panel Testing on Psychosocial Outcomes: A Comparison of Patients With Pancreatic and Breast or Ovarian Cancer.
Koptiuch Cathryn et al. JCO precision oncology 2021 5 -
From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes.
Woodward Emma R et al. Breast care (Basel, Switzerland) 2021 16(3) 202-213 -
Quality and Quantity: How to Organize a Countrywide Genetic Counseling and Testing.
Schmutzler Rita Katharina et al. Breast care (Basel, Switzerland) 2021 16(3) 196-201 -
Cancer patient knowledge about and behavioral intentions after germline genome sequencing.
Napier Christine E et al. Patient education and counseling 2021
Chronic Disease
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Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants.
Brown Carolyn A et al. Neuroepidemiology 2021 1-12 -
Genetic syndromes with diabetes: A systematic review.
Shi Daniel et al. Obesity reviews : an official journal of the International Association for the Study of Obesity 2021 e13303 -
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
Knoers Nine et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021
Ethics/Policy/Law
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Ethical Issues in Genetics and Infectious Diseases Research: An Interdisciplinary Expert Review.
Walker Alexis et al. Ethics, medicine, and public health 2021 18 -
A principled approach to cross-sector genomic data access.
Smith Marcus et al. Bioethics 2021 -
A survey on genomic data by privacy-preserving techniques perspective.
B Abinaya et al. Computational biology and chemistry 2021 93107538 -
Easing the burden of multi-state genetic counseling licensure in the United States: Process, pitfalls, and possible solutions.
Tschirgi Matthew L et al. Journal of genetic counseling 2021 -
Genomic medicine and the "loss of chance" medical malpractice doctrine.
Wagner Jennifer K et al. HGG advances 2021 2(3) -
An international policy on returning genomic research results.
Lewis Anna C F et al. Genome medicine 2021 13(1) 115 -
Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View.
Kohlschütter Alfried et al. Frontiers in neurology 2021 12692527
Practice
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Synthetic data for annotation and extraction of family history information from clinical text.
Brekke Pål H et al. Journal of biomedical semantics 2021 12(1) 11 -
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
Berrios Courtney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Frequency and management of medically actionable incidental findings from genome and exome sequencing data; A systematic review.
Elfatih Amal et al. Physiological genomics 2021 -
Genesurance counseling: Current training practices of genetic counseling graduate programs in the United States.
Wagner Chelsea et al. Journal of genetic counseling 2021
Heart, Lung, Blood and Sleep Diseases
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Outcomes from a pilot genetic counseling intervention using motivational interviewing and the extended parallel process model to increase cascade cholesterol screening.
Baldry Emma et al. Journal of genetic counseling 2021 -
Evinacumab for treatment of familial hypercholesterolemia.
Warden Bruce A et al. Expert review of cardiovascular therapy 2021 -
The economic impact of hypercholesterolemia and mixed dyslipidemia: A systematic review of cost of illness studies.
Ferrara Pietro et al. PloS one 2021 16(7) e0254631 -
Molecular classification of blood and bleeding disorder genes.
Baz Batoul et al. NPJ genomic medicine 2021 6(1) 62
Newborn Screening
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Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.
Xiao Tiantian et al. Annals of translational medicine 2021 9(9) 766 -
Screening of Dry Blood Spots from Newborns by Two High Performance Liquid Chromatography (HPLC) Systems: A Comparison of Their Ability to Diagnose Both Sickle and Non-sickle Hemoglobinopathies.
Ramani Daruwalla Manisha et al. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2021 37(3) 430-435 -
A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
Peterson Laiken et al. Journal of genetic counseling 2021
Pharmacogenomics
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[Progress of research on clinical use of non-invasive prenatal screening for special groups of pregnant women].
Yan Yousheng et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 38(7) 694-698 -
Pharmacogenomics Implementation Training Improves Self-Efficacy and Competency to Drive Adoption in Clinical Practice.
Adesta Fadhli et al. Frontiers in pharmacology 2021 12684907 -
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).
Matic Maja et al. European journal of human genetics : EJHG 2021 -
Health Equality, Race, and Pharmacogenomics.
Magavern Emma F et al. British journal of clinical pharmacology 2021
Reproductive Health
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Clinicians' attitudes towards parental choice in the era of advanced genomic tests in pregnancy.
Macarov Michal et al. Prenatal diagnosis 2021 -
Validation of ctDNA Quality Control Materials Through a Precompetitive Collaboration of the Foundation for the National Institutes of Health.
Williams P Mickey et al. JCO precision oncology 2021 5 -
Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.
Filer Dayne L et al. Prenatal diagnosis 2021 -
First trimester genetic sonogram for screening fetal Down syndrome: A population-based study.
Traisrisilp Kuntharee et al. Taiwanese journal of obstetrics & gynecology 2021 60(4) 706-710