Published on 10/01/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Pursuing genetic testing for children with autism spectrum disorders: What do parents think?
Zhao Shixi et al. Journal of genetic counseling 2020 Sep -
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.
Hebert Luke et al. PloS one 2020 15(9) e0239083 -
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain Gregory et al. JAMA network open 2020 Sep 3(9) e2018109
Cancer Genomics
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Venetoclax Plus Rituximab in Relapsed Chronic Lymphocytic Leukemia: 4-Year Results and Evaluation of Impact of Genomic Complexity and Gene Mutations From the MURANO Phase III Study.
Kater Arnon P et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Sep JCO2000948 -
Development and Validation of a Serum Metabolomic Signature for Endometrial Cancer Screening in Postmenopausal Women.
Troisi Jacopo et al. JAMA network open 2020 Sep 3(9) e2018327 -
Integrated genomic analysis identifies a genetic mutation model predicting response to immune checkpoint inhibitors in melanoma.
Jiang Junjie et al. Cancer medicine 2020 Sep -
Immune-Related Gene Expression and Cytokine Secretion Is Reduced Among African American Colon Cancer Patients.
Paredes Jenny et al. Frontiers in oncology 2020 101498 -
Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants.
S Santos Luís et al. Genes 2020 Sep 11(9) -
Utility of a multigene testing for preoperative evaluation of indeterminate thyroid nodules: A prospective blinded single center study in China.
Song Yuntao et al. Cancer medicine 2020 Sep
Hereditary Cancer
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Practical Considerations and Challenges for Germline Genetic Testing in Patients With Prostate Cancer: Recommendations From the Germline Genetics Working Group of the PCCTC.
Szymaniak Brittany M et al. JCO oncology practice 2020 Sep OP2000431 -
Cost-effectiveness Analysis of Genetic Testing and Tailored First-Line Therapy for Patients With Metastatic Gastrointestinal Stromal Tumors.
Banerjee Sudeep et al. JAMA network open 2020 Sep 3(9) e2013565 -
Cancer Risk Perceptions Among People Who Check Their Skin for Skin Cancer: Results from the 2017 U.S. Health Information National Trends Survey (HINTS).
Merten Julie Williams et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2020 Sep -
Imaging-based prostate cancer screening among BRCA mutation carriers-results from the first round of screening.
Segal N et al. Annals of oncology : official journal of the European Society for Medical Oncology 2020 Aug -
Evaluation of a Mainstream Model of Genetic Testing for Men With Prostate Cancer.
Scheinberg Tahlia et al. JCO oncology practice 2020 Sep OP2000399 -
New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
Evans D Gareth et al. Familial cancer 2020 Sep -
Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
Xu Yun et al. Frontiers in genetics 2020 11991 -
"I think that a brief conversation from their provider can go a very long way": Patient and provider perspectives on barriers and facilitators of genetic testing after ovarian cancer.
Mallen Adrianne R et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2020 Sep
Chronic Disease
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A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants.
Straniero Letizia et al. Parkinsonism & related disorders 2020 Sep 80138-141 -
A meta-analysis of the influence of ADRB2 genetic polymorphisms on albuterol (salbutamol) therapy in patients with asthma.
Hikino Keiko et al. British journal of clinical pharmacology 2020 Sep -
Novel Risk Loci in Tinnitus and Causal Inference With Neuropsychiatric Disorders Among Adults of European Ancestry.
Clifford Royce E et al. JAMA otolaryngology-- head & neck surgery 2020 Sep -
Interactions Between Genome-Wide Genetic Factors and Smoking Influencing Risk of Systemic Lupus Erythematosus.
Cui Jing et al. Arthritis & rheumatology (Hoboken, N.J.) 2020 Sep -
Characterizing the clinical and genetic spectrum of polycystic ovary syndrome in electronic health records.
Actkins Ky'Era V et al. The Journal of clinical endocrinology and metabolism 2020 Sep
Ethics/Policy/Law
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Bioethics and healthcare policies. The benefit of using genetic tests of BRCA 1 and BRCA 2 in elderly patients.
Fonseca Vasco et al. The International journal of health planning and management 2020 Sep -
Ethical, Legal, and Social Issues (ELSI) of Responsible Data Sharing Involving Children in Genomics: A Systematic Literature Review of Reasons.
Rahimzadeh Vasiliki et al. AJOB empirical bioethics 2020 Sep 1-13 -
Ethical issues in reproductive genetic carrier screening.
Dive Lisa et al. The Medical journal of Australia 2020 Sep
Practice
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Predictors of stakeholders' intention to adopt nutrigenomics.
Mustapa Muhammad Adzran Che et al. Genes & nutrition 2020 Sep 15(1) 16 -
Proof of concept of a personalized genetic risk tool to promote smoking cessation: High acceptability and reduced cigarette smoking.
Ramsey Alex T et al. Cancer prevention research (Philadelphia, Pa.) 2020 Sep -
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan Natalie B et al. Molecular genetics & genomic medicine 2020 Sep e1508 -
Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study.
Kraft Stephanie A et al. AJOB empirical bioethics 2020 Sep 1-11
Heart, Lung, Blood and Sleep Diseases
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Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH Registry.
de Ferranti Sarah D et al. The Journal of pediatrics 2020 Sep -
Gene Therapy of the Hemoglobinopathies.
Kunz Joachim B et al. HemaSphere 2020 Oct 4(5) e479 -
Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease.
Hindy George et al. Arteriosclerosis, thrombosis, and vascular biology 2020 Sep ATVBAHA120314856 -
Feasibility and cost of FH cascade screening in Belgium (BEL-CASCADE) including a novel rapid rule-out strategy.
Descamps Olivier S et al. Acta cardiologica 2020 Sep 1-9 -
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Fung Jasmine L F et al. NPJ genomic medicine 2020 537 -
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program.
Klarin Derek et al. Circulation 2020 Sep
Newborn Screening
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Methodological quality of clinical guidelines for universal newborn hearing screening.
Kamenov Kaloyan et al. Developmental medicine and child neurology 2020 Sep
Pharmacogenomics
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Identifying End Users' Preferences about Structuring Pharmacogenetic Test Orders in an Electronic Health Record System.
Hull Leland E et al. The Journal of molecular diagnostics : JMD 2020 Oct 22(10) 1264-1271 -
Cost Effectiveness of Genotype-Guided Antiplatelet Therapy in Asian Ischemic Stroke Patients: Ticagrelor as an Alternative to Clopidogrel in Patients with CYP2C19 Loss of Function Mutations.
Narasimhalu Kaavya et al. Clinical drug investigation 2020 Sep -
Assessment of primary care practitioners' attitudes and interest in pharmacogenomic testing.
Smith D Max et al. Pharmacogenomics 2020 Sep -
Assessment of the clinical utility of pharmacogenetic guidance in a comprehensive medication management service.
Rodríguez-Escudero Idaliz et al. Journal of the American College of Clinical Pharmacy : JACCP 2020 Sep 3(6) 1028-1037 -
PharmGKB tutorial for pharmacogenomics of drugs potentially used in the context of COVID-19.
Huddart Rachel et al. Clinical pharmacology and therapeutics 2020 Sep -
Genome-wide association analysis of opioid use disorder: A novel approach using clinical data.
Song Wenyu et al. Drug and alcohol dependence 2020 Sep 217108276 -
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 35(3)
Reproductive Health
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Genetic counseling for advanced paternal age: A survey of genetic counselors' current practice.
Quirin Kayla et al. Journal of genetic counseling 2020 Sep -
Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.
Liu Hongli et al. Journal of ovarian research 2020 Sep 13(1) 114 -
Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226.
et al. Obstetrics and gynecology 2020 Oct 136(4) 859-867 -
The role of Next Generation Sequencing in the investigation of ultrasound identified fetal structural anomalies.
Kilby M D et al. BJOG : an international journal of obstetrics and gynaecology 2020 Sep -
A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies; a retrospective review.
Dempsey E et al. BJOG : an international journal of obstetrics and gynaecology 2020 Sep