Publication Date: Aug 13, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Onset features and time to diagnosis in Friedreich's Ataxia.
Indelicato Elisabetta et al. Orphanet journal of rare diseases 2020 Aug 15(1) 198 - A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff Elena R et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug - Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Sabo Aniko et al. Molecular genetics & genomic medicine 2020 Aug e1439 - National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink Kim et al. European journal of human genetics : EJHG 2020 Jul - Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Brett Gemma R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul - Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study.
Srivastava Pallavi et al. Journal of neurosciences in rural practice 2020 Jul 11(3) 420-429
Cancer Genomics
- Prognostic value of TP53 co-mutation status combined with EGFR mutation in patients with lung adenocarcinoma.
Wang Feng et al. Journal of cancer research and clinical oncology 2020 Aug - Comparison of BRAF Mutation Screening Strategies in a Large Real-Life Series of Advanced Melanoma Patients.
Colombino Maria et al. Journal of clinical medicine 2020 Jul 9(8) - Clinical and Economic Value of Genetic Sequencing for Personalized Therapy in Non-small-cell Lung Cancer.
Tsimberidou Apostolia M et al. Clinical lung cancer 2020 Jun - A tailored next-generation sequencing panel identified distinct subtypes of wildtype IDH and TERT promoter glioblastomas.
Higa Nayuta et al. Cancer science 2020 Aug - A novel risk score based on a combined signature of 10 immune system genes to predict bladder cancer prognosis.
Tang Yunliang et al. International immunopharmacology 2020 Aug 87106851 - Molecular Profiling of Advanced Malignancies: A Community Oncology Network Experience and Review of Literature.
Tayshetye Pritam et al. Frontiers in medicine 2020 7314 - Evaluation of miR-130 family members as circulating biomarkers for the diagnosis of bladder cancer.
Wang Jingyao et al. Journal of clinical laboratory analysis 2020 Aug e23517 - A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.
Lorenz Julia et al. Acta neuropathologica communications 2020 Aug 8(1) 124 - Gene Signature and Identification of Clinical Trait-Related m 6 A Regulators in Pancreatic Cancer.
Hou Jie et al. Frontiers in genetics 2020 11522 - Prognostic role of ACTL10 in Cytogenetic Normal Acute Myeloid Leukemia.
Lai Rui et al. Journal of Cancer 2020 11(17) 5150-5161 - Prognostic Utility of Pre- and Postoperative Circulating Tumor DNA Liquid Biopsies in Patients with Peritoneal Metastases.
Baumgartner Joel M et al. Annals of surgical oncology 2020 Sep 27(9) 3259-3267 - Utilization Trends and Factors Associated With ROS1 Testing Among Patients With Advanced Non-small-cell Lung Cancer in US Community Practices.
Wong William et al. Clinical lung cancer 2020 Jun - Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar Meenakshi et al. Indian pediatrics 2020 Aug - Comparison of Large, Medium, and Small Solid Tumor Gene Panels for Detection of Clinically Actionable Mutations in Cancer.
Vail Eric et al. Targeted oncology 2020 Aug
Hereditary Cancer
- Pinning Pink: Messages About Hereditary Breast Cancer Risk on Pinterest.
Miller Carrie A et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2020 Aug - Endometrial Carcinomas with a "Serous" Component in Young Women Are Enriched for DNA Mismatch Repair Deficiency, Lynch Syndrome, and POLE Exonuclease Domain Mutations.
Conlon Niamh et al. The American journal of surgical pathology 2020 44(5) 641-648 - BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral.
Piedimonte Sabrina et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 Aug - Barriers and facilitators to CDH1 carriers contemplating or undergoing prophylactic total gastrectomy.
McGarragle Kaitlin M et al. Familial cancer 2020 Aug - Patterns of cancer family history and genetic counseling eligibility among African Americans with breast, prostate, lung, and colorectal cancers: A Detroit Research on Cancer Survivors cohort study.
Purrington Kristen S et al. Cancer 2020 Aug - Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Velázquez Carolina et al. Cancers 2020 Aug 12(8) - Exon splicing analysis of intronic variants in multi-gene cancer panel testing for hereditary breast/ovarian cancer.
Ryu Jin-Sun et al. Cancer science 2020 Aug - Is Familial Nonmedullary Thyroid Cancer A More Aggressive Type of Thyroid Cancer?
Muallem Kalmovich Limor et al. The Laryngoscope 2020 Aug - Stakeholder perspectives on overcoming barriers to cascade testing in Lynch syndrome: A qualitative study.
Srinivasan Swetha et al. Cancer prevention research (Philadelphia, Pa.) 2020 Jul - European polygenic risk score for prediction of breast cancer shows similar performance in Asian women.
Ho Weang-Kee et al. Nature communications 2020 Jul 11(1) 3833 - Is a colorectal neoplasm diagnosis a trigger to change dietary and other lifestyle habits for persons with Lynch syndrome? A prospective cohort study.
Brouwer Jesca G M et al. Familial cancer 2020 Aug
Chronic Disease
- The importance of Mediterranean fever gene in familial Mediterranean fever.
Kehribar Demet Yalçin et al. European journal of rheumatology 2020 Jul - Clinical value of DNA methylation markers in autoimmune rheumatic diseases.
Ballestar Esteban et al. Nature reviews. Rheumatology 2020 Aug - Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.
Khairi Shafaq et al. Hormones & cancer 2020 Aug - Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment.
Cho Hanna et al. Scientific reports 2020 Aug 10(1) 13365
Ethical, Legal and Social Issues (ELSI)
- Genetics experience impacts attitudes towards germline gene editing: a survey of over 1500 members of the public.
Jedwab Abbie et al. Journal of human genetics 2020 Jul - Tracking genetic discrimination.
et al. Nature genetics 2020 52(5) 465
General Practice
- A Modern Dilemma: How Experts Grapple with Ambiguous Genetic Test Results.
Scherr Courtney L et al. Medical decision making : an international journal of the Society for Medical Decision Making 2020 Jul 40(5) 655-668 - Medical Decision Support to Reduce Unwarranted Methylene Tetrahydrofolate Reductase (MTHFR) Genetic Testing.
Parkhurst Emily et al. Journal of medical systems 2020 Jul 44(9) 152 - Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint.
Ikeda Masashi et al. Journal of human genetics 2020 Aug
Heart, Lung, Blood and Sleep Diseases
- Awareness, treatment rates, and compliance to treatment in patients with serum LDL cholesterol higher than 250 mg/dl, and possible, probable or definite familial hypercholesterolemia.
Yaman Samet et al. Postgraduate medicine 2020 Aug - The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing.
Rallidis Loukianos S et al. Journal of cardiology 2020 Jul - Genetic risk scores for coronary artery disease and its traditional risk factors: Their role in the progression of coronary artery calcification-Results of the Heinz Nixdorf Recall study.
Pechlivanis Sonali et al. PloS one 2020 15(5) e0232735 - Doctor-patient care relationship in genetic cardiomyopathies: An exploratory study on clinical consultations.
Fioretti Chiara et al. PloS one 2020 15(8) e0236814 - Pharmacological and Genomic Approaches in Management of Cystic Fibrosis.
Qadir Muhammad Imran et al. Critical reviews in eukaryotic gene expression 2020 30(3) 191-197 - [Detection and treatment of familial hypercholesterolaemia; the earlier, the better?]
Kusters D M et al. Nederlands tijdschrift voor geneeskunde 2020 May 164 - Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.
Burstein Danielle S et al. Pediatric research 2020 Aug - ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients.
Heliö Tiina et al. ESC heart failure 2020 Aug - Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
Rieck Lorenz et al. Clinical genetics 2020 Aug
Newborn Screening
- Newborn Screening through TREC, TREC/KREC system for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive review.
Shinwari Khyber et al. Anti-inflammatory & anti-allergy agents in medicinal chemistry 2020 Jul - Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand Janne et al. Frontiers in immunology 2020 111417 - A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
Ferreira Igor Ribeiro et al. Scientific reports 2020 Aug 10(1) 13026
Pharmacogenomics
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.
Lima John J et al. Clinical pharmacology and therapeutics 2020 Aug - Drug Use among Nursing Home Residents in Denmark for Drugs Having Pharmacogenomics Based (PGx) Dosing Guidelines: Potential for Preemptive PGx Testing.
Vermehren Charlotte et al. Journal of personalized medicine 2020 Jul 10(3) - Development of Customizable Implementation Guides to Support Clinical Adoption of Pharmacogenomics: Experiences of the Implementing GeNomics In pracTicE (IGNITE) Network.
Duong Benjamin Q et al. Pharmacogenomics and personalized medicine 2020 13217-226 - Patient perceptions of pharmacogenomic testing in the community pharmacy setting.
Bright David et al. Research in social & administrative pharmacy : RSAP 2020 Jul - PARC report: a health-systems focus on reimbursement and patient access to pharmacogenomics testing.
L Rogers Sara et al. Pharmacogenomics 2020 Aug - Implementing a pharmacogenetic-driven algorithm to guide dual antiplatelet therapy (DAPT) in Caribbean Hispanics: protocol for a non-randomised clinical trial.
Hernandez-Suarez Dagmar F et al. BMJ open 2020 Aug 10(8) e038936 - Hmong participants' reactions to return of individual and community pharmacogenetic research results: "A positive light for our community".
Holzer K et al. Journal of community genetics 2020 Aug - Description of Pharmacogenomic Testing Among Patients Admitted to the Intensive Care Unit After Cardiovascular Surgery.
Peterson Pamela E et al. Journal of intensive care medicine 2020 Jul 885066620946303
Reproductive Health
- Perceptions, motivations and decision regret surrounding preimplantation genetic testing for aneuploidy.
Kaing Amy et al. Human reproduction (Oxford, England) 2020 Aug - Preimplantation genetic testing for aneuploidy in severe male factor infertility.
Asoglu Mehmet Resit et al. Reproductive biomedicine online 2020 Jun - Preimplantation Genetic Testing for Monogenic Disorders.
De Rycke Martine et al. Genes 2020 Jul 11(8)
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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