Published on 06/13/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Erin Thorpe et al. Am J Hum Genet 2024 -
"It's hard to wait": Provider Perspectives on Current Genomic Care in Safety-Net NICUs.
Alissa M D'Gama et al. Genet Med 2024 101177 -
Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.
Susan E Matesanz et al. Neurol Clin Pract 2024 14(4) e200312 -
Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.
Pamela Bowman et al. Dev Med Child Neurol 2024
Cancer Genomics
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Cost-Effectiveness Analysis of the Oncotype DX Breast Recurrence Score Test from a US Societal Perspective.
Vladislav Berdunov et al. Clinicoecon Outcomes Res 2024 16471-482 -
Successive next-generation sequencing strategy for optimal fusion gene detection in non-small-cell lung cancer in clinical practice.
Simon Garinet et al. Pathology 2024
Hereditary Cancer
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Implementation of and Systems-Level Barriers to Guideline-Driven Germline Genetic Evaluation in the Care of Patients With Myelodysplastic Syndrome and Acute Myeloid Leukemia.
Lauren G Banaszak et al. JCO Precis Oncol 2024 8e2300518 -
Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.
Paula Isabel Franco et al. JCO Glob Oncol 2024 10e2400019 -
Recommendations of Health Care Professionals on the Issue of Breastfeeding in BRCA Carriers.
Moran Echar et al. Breastfeed Med 2024 -
A pilot randomized controlled study to determine the effectiveness of video educational tool in BRCA1/2 pre-test counseling for Japanese breast cancer patients.
Haruna Nakamura et al. J Genet Couns 2024 -
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Elizabeth K Bancroft et al. BJU Int 2024 -
Population-Level Identification of Patients With Lynch Syndrome for Clinical Care, Quality Improvement, and Research.
Ravi N Sharaf et al. JCO Clin Cancer Inform 2024 8e2300157 -
Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach.
Hikmat Abdel-Razeq et al. Sci Rep 2024 14(1) 12820
Ethics/Policy/Law
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Perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research.
Faith Musvipwa et al. BMC Med Ethics 2024 25(1) 67 -
Ethical issues in the application of genome-wide association studies to US military recruitment and personnel assignments.
Daniel J Hurst et al. BMJ Mil Health 2024 -
Future-proofing genomic data and consent management: a comprehensive review of technology innovations.
Adrien Oliva et al. Gigascience 2024 13 -
Ethical preparedness in the clinical genomics laboratory: the value of embedded ethics expertise.
Gabriel Watts et al. J Med Ethics 2024
Practice
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What do cancer genetic providers want us to know about variant reclassification and recontact that we are not asking? A thematic analysis of open-ended survey responses.
Kerri Brown et al. Cancer 2024 -
Satisfaction with Mode of Delivery of Genomic Sequencing Results in a Diverse National Sample of Research Participants through the Clinical Sequencing Evidence-Generating Research Consortium.
Sarah Scollon et al. Genet Med 2024 101176
Heart, Lung, Blood and Sleep Diseases
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Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting.
Nilesh J Samani et al. Eur Heart J 2024 -
Evinacumab in homozygous familial hypercholesterolaemia: long-term safety and efficacy.
Daniel Gaudet et al. Eur Heart J 2024 -
MSGene: a multistate model using genetic risk and the electronic health record applied to lifetime risk of coronary artery disease.
Sarah M Urbut et al. Nat Commun 2024 15(1) 4884 -
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.
Catia Mio et al. Clin Genet 2024
Newborn Screening
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Newborn Screening in Developing Countries: The Need of the Hour.
Sarika Gaikwad et al. Cureus 2024 16(5) e59572
Reproductive Health
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Implementation of an Enhanced Prenatal Checklist to Increase Rates of Counseling of Prenatal Fetal Aneuploidy Testing.
Elizabeth Cochrane et al. Cureus 2024 16(6) e61654