Published on 05/18/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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"I Have Fought for so Many Things": Disadvantaged families' Efforts to Obtain Community-Based Services for Their Child after Genomic Sequencing.
Sara L Ackerman et al. AJOB Empir Bioeth 2023 1-10 -
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Noura S Abul-Husn et al. Genet Med 2023 100880
Cancer Genomics
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Cost-effectiveness analysis of molecular testing in minimally invasive samples to detect endometrial cancer in women with postmenopausal bleeding.
Paula Peremiquel-Trillas et al. Br J Cancer 2023 -
The Maine Cancer Genomics Initiative: Implementing a Community Cancer Genomics Program Across an Entire Rural State.
Jens Rueter et al. JCO Precis Oncol 2023 7e2200619 -
TP53 Gain-of-Function and Non-Gain-of-Function Mutations Are Associated With Differential Prognosis in Advanced Pancreatic Ductal Adenocarcinoma.
Minggui Pan et al. JCO Precis Oncol 2023 7e2200570 -
Performance of Ultra-Rapid Idylla™ EGFR Mutation Test in Non-Small-Cell Lung Cancer and Its Potential at Clinical Molecular Screening.
Kenichi Suda et al. Cancers (Basel) 2023 15(9) -
The Prognostic Value and Clinical Utility of the 40-Gene Expression Profile (40-GEP) Test in Cutaneous Squamous Cell Carcinoma: Systematic Review and Meta-Analysis.
Razan Masarwy et al. Cancers (Basel) 2023 15(9)
Hereditary Cancer
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Effect of the COVID-19 pandemic on endoscopic surveillance in Lynch syndrome in the Netherlands.
Elsa L S A van Liere et al. Lancet Gastroenterol Hepatol 2023 8(6) 504-506 -
Evaluating attributes of a collaborative model of service delivery for hereditary cancer risk assessment.
Stephanie A Cohen et al. J Genet Couns 2023 -
Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome.
Sayoni Lahiri et al. Cancer Control 2023 3010732748231175011 -
Electronic medical record documentation of germline genetic evaluations in patients with ovarian cancer.
Melissa Batson et al. J Genet Couns 2023 -
Pivotal Role of Genetic Counselors in the Uptake of Germline Genetic Testing in Non-Metastatic Breast Cancer and the Impact of Testing on Surgical Decision Making.
Richard A Erali et al. Am Surg 2023 31348231175097 -
The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer: Tumor-First or Germline-First?
Vera M Witjes et al. Gynecol Oncol 2023 174121-128 -
Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program.
Jeremy C Jones et al. Cureus 2023 15(4) e37428 -
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic.
Samantha Williams et al. Hered Cancer Clin Pract 2023 21(1) 6 -
Racial disparities in cascade testing for cancer predisposition genes.
Nawal M Kassem et al. Prev Med 2023 107539 -
Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome.
Po-Han Lin et al. J Gynecol Oncol 2023 -
Colorectal surveillance outcomes from an institutional longitudinal cohort of lynch syndrome carriers.
Gabriel Del Carmen et al. Front Oncol 2023 131146825
Chronic Disease
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Challenges of Integrating APOL1 Genetic Test Results into the Electronic Health Record.
Luke V Rasmussen et al. Appl Clin Inform 2023 14(2) 321-325 -
Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.
Paolo Abondio et al. Curr Issues Mol Biol 2023 45(4) 2817-2831 -
Advantages of routine next generation sequencing over standard genetic testing in the ALS clinic.
Jakub Scaber et al. Eur J Neurol 2023 -
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Rowida Almomani et al. Int J Mol Sci 2023 24(9) -
Genetic prediction of lifetime risk of fracture.
Thao P Ho-Le et al. J Clin Endocrinol Metab 2023
Ethics/Policy/Law
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Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations.
Fiona Lynch et al. Eur J Hum Genet 2023 -
How are health technology assessment bodies responding to the assessment challenges posed by cell and gene therapy?
Michael Drummond et al. BMC Health Serv Res 2023 23(1) 484 -
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.
Jane Tiller et al. Eur J Hum Genet 2023
Practice
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Clinical, genomic, and neurophysiological correlates of lifetime suicide attempts among individuals with alcohol dependence.
Peter B Barr et al. medRxiv 2023 -
Clinical and laboratory genetic counseling assistants: Comparing background experiences, responsibilities, satisfaction, and career goals.
Cassidy Gagne et al. J Genet Couns 2023
Heart, Lung, Blood and Sleep Diseases
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Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia.
Elena Olmastroni et al. J Am Heart Assoc 2023 e029223 -
A systematic literature review of economic evaluations and cost-of-illness studies of inherited cardiomyopathies.
Isabell Wiethoff et al. Neth Heart J 2023
Pharmacogenomics
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Confirmatory DPYD Testing in Patients Receiving Fluoropyrimidines who are Suspected DPYD Variant Carriers Based on a Genetic Data Repository.
Amy L Pasternak et al. Clin Pharmacol Ther 2023 -
Implementation of DPYD Genotyping in Admixed American Populations: Brazil as a Model Case.
Guilherme Suarez-Kurtz et al. Clin Pharmacol Ther 2023 -
Child and adolescent psychiatrists' use, attitudes, and understanding of genetic testing and pharmacogenetics in clinical practice.
Takahiro Soda et al. Psychiatry Res 2023 325115246 -
Effect of CYP2D6 pharmacogenetic phenotype and phenoconversion on serum concentrations of antidepressants and antipsychotics: a retrospective cohort study.
Maike Scherf-Clavel et al. Int J Clin Pharm 2023
Reproductive Health
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Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion.
et al. Fertil Steril 2023 -
Supporting healthcare professionals to offer reproductive genetic carrier screening: a behaviour change theory approach.
Stephanie Best et al. Aust J Prim Health 2023 -
Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study.
Xiying Yuan et al. BMC Pregnancy Childbirth 2023 23(1) 351