Published on 01/18/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Assessing management practices for variants of uncertain significance among genetic counselors in pediatrics.
Chloe Cheung et al. J Genet Couns 2024 -
Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.
Jamie C Fox et al. J AAPOS 2024 -
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada.
Dean A Regier et al. Genet Med 2024 101069 -
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Alexandra Santana Almansa et al. Ann Clin Transl Neurol 2024 -
Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
Blake Vuocolo et al. Res Sq 2024 -
Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.
Robert Klitzman et al. J Autism Dev Disord 2023
Cancer Genomics
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Effectiveness of next-generation sequencing for patients with advanced non-small-cell lung cancer: a population-based registry study.
D-W Kang et al. ESMO Open 2024 9(1) 102200 -
Importance of Patient Health Insurance Coverage and Out-of-Pocket Costs for Genomic Testing in Oncologists' Treatment Decisions.
K Robin Yabroff et al. JCO Oncol Pract 2024 OP2300153 -
Exploring the Cost Effectiveness of a Whole-Genome Sequencing-Based Biomarker for Treatment Selection in Patients with Advanced Lung Cancer Ineligible for Targeted Therapy.
Zakile A Mfumbilwa et al. Pharmacoeconomics 2024 -
Comprehensive Genomic Analysis of Patients With Non-Small-Cell Lung Cancer Using Blood-Based Circulating Tumor DNA Assay: Findings From the BFAST Database of a Single Center in Taiwan.
Hsin-Yi Wang et al. JCO Precis Oncol 2024 8e2300314 -
Application of a 21-Gene Recurrence Score in a Swiss Single-Center Breast Cancer Population: A Comparative Analysis of Treatment Administration before and after TAILORx.
Elena Diana Chiru et al. Diagnostics (Basel) 2024 14(1) -
Clinical Utility of the 31-Gene Expression Profile Test on the Management of Cutaneous Melanoma by Nurse Practitioners and Physician Assistants.
Renata Block et al. J Adv Pract Oncol 2024 14(7) 586-596 -
Reduction in Breast Cancer Death With Adjuvant Chemotherapy Among US Women According to Race, Ethnicity, and the 21-Gene Recurrence Score.
Hsiao-Ching Huang et al. J Natl Compr Canc Netw 2024 1-14 -
Patient experiences with tissue-based genomic testing during active surveillance for prostate cancer.
Michael S Leapman et al. BJUI Compass 2024 5(1) 142-149 -
Utilizing Human Genetics to Develop Chemoprevention for Cancer-Too Good an Opportunity to be Missed.
Ulrike Peters et al. Cancer Prev Res (Phila) 2024 17(1) 7-12 -
Benefits of Implementing Reflex Genomic Analysis for Nonsmall Cell Lung Cancer.
Benjamin F Smith et al. J Appl Lab Med 2024 9(1) 28-40
Hereditary Cancer
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Counselling and management of women with genetic predisposition to gynaecological cancers.
Naushabah Malik et al. Eur J Obstet Gynecol Reprod Biol 2024 29444-48 -
Risk-management decision-making data from a community-based sample of racially diverse women at high risk of breast cancer: rationale, methods, and sample characteristics of the Daughter Sister Mother Project survey.
Tasleem J Padamsee et al. Breast Cancer Res 2024 26(1) 8 -
A cost-effectiveness analysis of an integrated clinical-radiogenomic screening program for the identification of BRCA 1/2 carriers (e-PROBE study).
A Di Pilla et al. Sci Rep 2024 14(1) 928 -
Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population.
Marian J Gilmore et al. Transl Behav Med 2024 -
Prophylactic Interventions for Hereditary Breast and Ovarian Cancer Risks and Mortality in BRCA1/2 Carriers.
Taoran Liu et al. Cancers (Basel) 2024 16(1) -
Genetic Testing for Successful Cancer Treatment.
Desh Nidhi Singh et al. Cureus 2024 15(12) e49889 -
Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data.
Joshua Shain et al. Semin Oncol 2024 -
Surveillance Compliance and Quality of Life Assessment Among Surgical Patients with Familial Adenomatous Polyposis Syndrome.
Noura Alhassan et al. J Epidemiol Glob Health 2024 -
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.
Giovanni Innella et al. J Med Genet 2023
Chronic Disease
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Evaluating ApoL1 Genetic Testing Policy Options for Transplant Centers: A Delphi Consensus Panel Project with Stakeholders.
Tristan McIntosh et al. Clin J Am Soc Nephrol 2024 -
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.
Thomas Robert et al. Clin Kidney J 2024 17(1) sfad099 -
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease.
Mincheol Park et al. Neurol Genet 2024 10(1) e200115 -
Interest in genetic susceptibility testing and disclosure of AD dementia risk in cognitively normal adults: a survey study.
Lisa Waterink et al. Alzheimers Res Ther 2024 16(1) 1
Practice
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Accessing and utilizing clinical and genomic data from an electronic health record data warehouse.
Cosby G Arnold et al. Transl Med Commun 2024 8 -
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study.
Zoe Fehlberg et al. Eur J Hum Genet 2024 -
Combined population genomic screening for three high-risk conditions in Australia: a modelling study.
Paul Lacaze et al. EClinicalMedicine 2024 66102297 -
Release of reclassified VUS results of now deceased patients to family members: Practices and opinions.
Seth Lascurain et al. J Genet Couns 2024 -
Systematic review of the uptake and outcomes from returning secondary findings to adult participants in research genomic testing.
Lucas A Mitchell et al. J Genet Couns 2024 -
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
Laura K Wiley et al. Am J Hum Genet 2024 111(1) 11-23 -
Clinical Utility and Long-Term Feasibility of Exome and Genome Reanalysis: From the Perspectives of a Clinical Laboratory.
Jianling Ji et al. J Appl Lab Med 2024 9(1) 162-167 -
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9 -
Embedding genomics across the NHS: a primary care perspective.
Judith Hayward et al. Future Healthc J 2024 10(3) 263-269
Heart, Lung, Blood and Sleep Diseases
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The frequency of gene variant reclassification and its impact on clinical management in the inherited arrhythmia clinic.
William J Young et al. Heart Rhythm 2024 -
Clinical and genetic diagnosis of familial hypercholesterolaemia in patients undergoing coronary angiography: the Ludwigshafen Risk and Cardiovascular Health Study.
Stefan Molnar et al. Eur Heart J Qual Care Clin Outcomes 2024 -
Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening.
Rebeca Lorca et al. J Clin Med 2024 13(1) -
Predictive improvement of adding Coronary Calcium Score and a Genetic Risk Score to a Traditional Risk Model for cardiovascular events prediction.
Margarida Temtem et al. Eur J Prev Cardiol 2024 -
Two-Dimensional Ultrasound Assessment of Long-Term Intra-Abdominal Organ Changes in Children with Sickle Cell Anemia during Steady State: A Comparative Study.
C S Nwosu et al. Niger J Clin Pract 2023 26(12) 1861-1867 -
Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.
Abdullah Al-Ashwal et al. J Clin Lipidol 2023 -
Assessment of ethnic inequalities in diagnostic coding of familial hypercholesterolaemia (FH): A cross-sectional database study in Lambeth, South London.
Mariam Molokhia et al. Atherosclerosis 2023 388117353
Newborn Screening
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ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Nicole R Kelly et al. Mol Genet Metab Rep 2024 38101037 -
Evaluation of newborn hearing screening results of infants with phenylketonuria.
Fatih Yüksel et al. Int J Pediatr Otorhinolaryngol 2024 177111840 -
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
Alayne P Meyer et al. J Neuromuscul Dis 2023 11(1) 129-142
Pharmacogenomics
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Implementing HLA-B*58:01 testing prior to allopurinol initiation in Malaysian primary care setting: A qualitative study from doctors' and patients' perspective.
Wei Leik Ng et al. PLoS One 2024 19(1) e0296498 -
Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study.
Elise Koch et al. Neuropsychopharmacology 2024
Reproductive Health
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Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population.
Lauren Isley et al. F S Rep 2024 4(4) 384-389 -
Challenges experienced by genetic counselors while they provided counseling about mosaic embryos.
Olivia M Moran et al. F S Rep 2024 4(4) 353-360 -
Genetic contributions to risk of adverse pregnancy outcomes.
Zachary H Hughes et al. Curr Cardiovasc Risk Rep 2024 17(11) 185-193 -
Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
Carly Eichten et al. J Genet Couns 2024 -
Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.
Eva Van Steijvoort et al. J Assist Reprod Genet 2024 -
Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.
Harriet T Rothschild et al. Prenat Diagn 2023