Published on 08/03/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.
Laura V Milko et al. Int J Neonatal Screen 2023 9(3) -
The Minimum Data Set for Rare Diseases: Systematic Review.
Filipe Andrade Bernardi et al. J Med Internet Res 2023 25e44641 -
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Amy A Lemke et al. J Pers Med 2023 13(7) -
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Jorune Balciuniene et al. JAMA Netw Open 2023 6(7) e2326445 -
Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.
Gustavo Moura da Mata Machado Ferreira Pinto et al. Epileptic Disord 2023 -
Neuromuscular disease genetics in underrepresented populations: increasing data diversity.
Lindsay A Wilson et al. Brain 2023 -
Prevalence and Clinical Significance of Commonly Diagnosed Genetic Disorders in Preterm Infants.
Selin S Everett et al. medRxiv 2023
Cancer Genomics
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Clinical Implication of HER2 Aberration in Patients With Metastatic Cancer Using Next-Generation Sequencing: A Pan-Tumor Analysis.
Jaeyun Jung et al. JCO Precis Oncol 2023 7e2200537 -
Canadian Consensus Recommendations on the Management of KRAS G12C-Mutated NSCLC.
Parneet K Cheema et al. Curr Oncol 2023 30(7) 6473-6496 -
European experience with the Afirma Gene Expression Classifier for indeterminate thyroid nodules: A clinical utility study in the Netherlands.
Ivona Loncar et al. Head Neck 2023 -
Association of Circulating Tumor DNA Testing Before Tissue Diagnosis With Time to Treatment Among Patients With Suspected Advanced Lung Cancer: The ACCELERATE Nonrandomized Clinical Trial.
Miguel García-Pardo et al. JAMA Netw Open 2023 6(7) e2325332
Hereditary Cancer
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Canadian Healthcare Professionals' Views and Attitudes toward Risk-Stratified Breast Cancer Screening.
Julie Lapointe et al. J Pers Med 2023 13(7) -
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam.
Huu-Thinh Nguyen et al. Fam Cancer 2023 -
Germline mutations in 12 genes and risk of ovarian cancer in three population-based cohorts.
Joanne Kotsopoulos et al. Cancer Epidemiol Biomarkers Prev 2023
Chronic Disease
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A genome-wide genomic score added to standard recommended stratification tools does not improve the identification of patients with very low bone mineral density.
J Therkildsen et al. Osteoporos Int 2023 -
Association of APOE ε4 Status With Long-term Declines in Odor Sensitivity, Odor Identification, and Cognition in Older US Adults.
Matthew S GoodSmith et al. Neurology 2023 -
Abdominal obesity genetic variants predict waist circumference regain after weight loss.
Malene Revsbech Christiansen et al. Diabetes 2023 -
Genomic testing for suspected monogenic kidney disease in children and adults: a health economic evaluation.
You Wu et al. Genet Med 2023 100942
Ethics/Policy/Law
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Ethical, legal, and social implications (ELSI) and challenges in the design of a randomized controlled trial to test the online return of cancer genetic research results to U.S. black women.
Catharine Wang et al. Contemp Clin Trials 2023 107309 -
Advancing Understanding of Inequities in Rare Disease Genomics.
Jillian G Serrano et al. Clin Ther 2023 -
Genetic discrimination by insurance companies in Aotearoa New Zealand: experiences and views of health professionals.
Harry Fraser et al. N Z Med J 2023 136(1574) 32-52
Practice
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Assessing the Performance of the Clinician-Reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-Rater Reliability.
Robin Z Hayeems et al. Clin Ther 2023 -
Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.
Beth Coad et al. BMC Med Educ 2023 23(1) 540 -
Defining Need Amid Exponential Change: Conceptual Challenges in Workforce Planning for Clinical Genetic Services.
Kennedy Borle et al. Clin Ther 2023 -
Applications of artificial intelligence in clinical laboratory genomics.
Swaroop Aradhya et al. Am J Med Genet C Semin Med Genet 2023 -
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.
Timothy D O'Brien et al. Am J Hum Genet 2023 -
Motivations to learn genomic information are not exceptional: Lessons from behavioral science.
Jennifer M Taber et al. Clin Genet 2023 -
Adolescents' and Parents' Perspectives on a Novel Decision-Making Process for Return of Results in Genomic Research.
Kelly A Matula et al. J Empir Res Hum Res Ethics 2023 15562646231190826
Heart, Lung, Blood and Sleep Diseases
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Cost-effectiveness analysis of implementing polygenic risk score in a workplace cardiovascular disease prevention program.
Deo Mujwara et al. Front Public Health 2023 111139496 -
Barriers and Facilitators of Premarital Genetic Counseling for Sickle Cell Disease in Northern Nigeria.
Aisha A Galadanci et al. J Pediatr Hematol Oncol 2023 45(6) e716-e722
Newborn Screening
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Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.
Birgit Odenwald et al. Int J Neonatal Screen 2023 9(3) -
The Future of Newborn Genomic Testing.
John D Lantos et al. Children (Basel) 2023 10(7)
Pharmacogenomics
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Real-world pharmacogenetics of statin intolerance: effects of SLCO1B1, ABCG2, and CYP2C9 variants.
K Ivar Lönnberg et al. Pharmacogenet Genomics 2023
Reproductive Health
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Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis.
Andrea Busnelli et al. Genet Med 2023 100943 -
Fertility Preservation as an Option for Women with Genetic Disorders: Insights from a SWOT Analysis on Elective Oocyte Freezing and Preimplantation Genetic Testing.
Greta Chiara Cermisoni et al. Life (Basel) 2023 13(7)