Published on 05/23/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.
Claus H Gravholt et al. Eur J Endocrinol 2024 -
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.
Asem Berkalieva et al. Qual Life Res 2024
Cancer Genomics
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Genomic sequencing research in pediatric cancer care: Decision-making, attitudes, and perceived utility among adolescents and young adults and their parents.
Amanda M Gutierrez et al. Genet Med 2024 101168 -
Real-World Impact of Comprehensive Genomic Profiling on Biomarker Detection, Receipt of Therapy, and Clinical Outcomes in Advanced Non-Small Cell Lung Cancer.
Jeanna Wallenta Law et al. JCO Precis Oncol 2024 8e2400075 -
Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer.
Umberto Malapelle et al. Br J Cancer 2024 -
Prospective Study of Homologous Recombination Repair Gene Mutation Prevalence in Patients With Advanced Prostate Cancer From Latin America: Challenges and Future Approaches.
Ray Manneh et al. JCO Precis Oncol 2024 8e2300628 -
Inappropriate Ordering of Multitarget Stool DNA Tests for Colon Cancer Screening.
Aaron B Ahn et al. J Am Board Fam Med 2024 37(2) 328-331
Hereditary Cancer
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Risk Factors and Mortality Among Women With Interval Breast Cancer vs Screen-Detected Breast Cancer.
Huiyeon Song et al. JAMA Netw Open 2024 7(5) e2411927 -
Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline.
Nadine Tung et al. J Clin Oncol 2024 JCO2400662 -
Feasibility and cost-effectiveness of genetic counselling for all patients with newly diagnosed ovarian cancer: a single-centre retrospective study.
Saskia Schlootz et al. Swiss Med Wkly 2024 1543386 -
Cascade genetic testing: an underutilized pathway to equitable cancer care?
Roni Nitecki Wilke et al. Fam Cancer 2024 -
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.
Sophia Hammer-Hansen et al. Eur J Hum Genet 2024
Chronic Disease
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Apolipoprotein ɛ4 is associated with increased risk of fall- and fracture-related hospitalisation: the Perth Longitudinal Study of Ageing Women.
Jedd Pratt et al. J Gerontol A Biol Sci Med Sci 2024
Ethics/Policy/Law
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Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges.
Padraig Dixon et al. Health Econ Policy Law 2024 1-13
Practice
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Design and Pilot Results from Million Veteran Program Return Of Actionable Genetic Results (MVP-ROAR) Study.
Jason L Vassy et al. Am Heart J 2024 -
Familial communication and cascade testing following elective genomic testing.
Sophia M Adelson et al. J Genet Couns 2024
Heart, Lung, Blood and Sleep Diseases
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Barriers and facilitators to community acceptability of integrating point-of-care testing to screen for sickle cell disease in children in primary healthcare settings in rural Upper East Region of Northern Ghana.
Samuel T Chatio et al. PLoS One 2024 19(5) e0303520 -
Increased risk of venous thromboembolism in young and middle-aged individuals with hereditary angioedema: a family study.
Linda Sundler Björkman et al. Blood 2024 -
Cardiovascular outcomes in patients with homozygous familial hypercholesterolaemia on lipoprotein apheresis initiated during childhood: long-term follow-up of an international cohort from two registries.
M Doortje Reijman et al. Lancet Child Adolesc Health 2024 -
The highest-cost Medicaid enrollees with sickle cell disease had annual health care expenditures nearing $200 000.
Junelle Speller et al. Health Aff Sch 2024 2(4) qxae029
Newborn Screening
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Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.
Wei Wang et al. Clin Lab 2024 70(5)
Pharmacogenomics
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Cost-effectiveness analysis of CYP3A5 genotype-guided tacrolimus dosing in solid organ transplantation using real-world data.
Kimberly M Deininger et al. Pharmacogenomics J 2024 24(3) 14 -
A systematic review of pharmacogenetic testing to guide antipsychotic treatment.
Noushin Saadullah Khani et al. Nat Ment Health 2024 2(5) 616-626
Reproductive Health
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Prevalence threshold and positive predictive value of noninvasive prenatal testing.
Aditi Sivakumar et al. Int J Gynaecol Obstet 2024 -
Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals.
Molly Johnston et al. BMC Pregnancy Childbirth 2024 24(1) 355