Published on 04/04/2024
Human Genomics across the Lifespan
Cancer Genomics
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Effectiveness and Cost-Effectiveness of Colorectal Cancer Screening With a Blood Test That Meets the Centers for Medicare & Medicaid Services Coverage Decision.
Rosita van den Puttelaar et al. Gastroenterology 2024
Hereditary Cancer
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IMPACT OF ENDOSCOPIC TREATMENT IN SEVERE DUODENAL POLYPOSIS: A NATIONAL STUDY IN FAMILIAL ADENOMATOUS POLYPOSIS PATIENTS.
Pierrine Le Bras et al. Clin Gastroenterol Hepatol 2024 -
A scoping review of web-based, interactive, personalized decision-making tools available to support breast cancer treatment and survivorship care.
Kaitlyn M Wojcik et al. J Cancer Surviv 2024
Chronic Disease
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Physical Activity and Incident Obesity Across the Spectrum of Genetic Risk for Obesity.
Evan L Brittain et al. JAMA Netw Open 2024 7(3) e243821
Ethics/Policy/Law
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FAIR Header Reference genome: a TRUSTworthy standard.
Adam Wright et al. Brief Bioinform 2024 25(3) -
Clinician perspectives on policy approaches to genetic risk disclosure in families.
Amicia Phillips et al. Fam Cancer 2024 -
Ethical implications of developing RNA-based therapies for cardiovascular disorders.
Mihaela Hostiuc et al. Front Bioeng Biotechnol 2024 121370403
Practice
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Clinical Strategies in Gene Screening Counseling for the Healthy General Population.
Hae Yeon Kang et al. Korean J Fam Med 2024 45(2) 61-68 -
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Jessica Gold et al. medRxiv 2024 -
Genetically guided precision medicine clinical decision support tools: a systematic review.
Darren Johnson et al. J Am Med Inform Assoc 2024
Heart, Lung, Blood and Sleep Diseases
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Integration of a polygenic score into guideline-recommended prediction of cardiovascular disease.
Ling Li et al. Eur Heart J 2024 -
The Health History of First-Degree Relatives' Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia.
Tomoharu Tokutomi et al. Genes (Basel) 2024 15(3) -
Characterizing genetic profiles for high triglyceride levels in U.S. patients of African ancestry.
Lan Jiang et al. medRxiv 2024
Newborn Screening
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Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.
Alessia Mauri et al. Mol Genet Metab Rep 2024 39101074 -
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study.
Najibah Galadanci et al. Int J Neonatal Screen 2024 10(1) -
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Ryan Jilek et al. Int J Neonatal Screen 2024 10(1) -
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
Lieke M van den Heuvel et al. Int J Neonatal Screen 2024 10(1)
Pharmacogenomics
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Implementation of CYP2C19 and CYP2D6 genotyping to guide antidepressant use in a large rural health system.
Natasha J Petry et al. Am J Health Syst Pharm 2024 -
A New Cloud-Native Tool for Pharmacogenetic Analysis.
David Yu Yuan et al. Genes (Basel) 2024 15(3)
Reproductive Health
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A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples.
Hong Su et al. Medicine (Baltimore) 2024 103(13) e37610 -
Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.
Kara Bellai-Dussault et al. JAMA Netw Open 2024 7(3) e243689