Publication Date: Oct 1, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- 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
- 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 - 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
- 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
- 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
Ethical, Legal and Social Issues (ELSI)
- 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
General Practice
- 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
- 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
- Methodological quality of clinical guidelines for universal newborn hearing screening.
Kamenov Kaloyan et al. Developmental medicine and child neurology 2020 Sep
Pharmacogenomics
- 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
- 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
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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