Published on 06/06/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease.
Laura B Oehlman et al. Front Genet 2024 151398887 -
Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.
Patricia Birch et al. Genet Med 2024 101173 -
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
Kaukab Rajput et al. Otolaryngol Head Neck Surg 2024
Cancer Genomics
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Deleterious alterations in homologous recombination repair genes and efficacy of platinum-based chemotherapy in biliary tract cancers.
Carmen Belli et al. Oncologist 2024 -
Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.
Robert John Walsh et al. Front Oncol 2024 141342346 -
Genetic Testing Utilization: Discrepancies Between Somatic and Germline Results in Patients With Cancer Reviewed at the UW Health Precision Medicine Molecular Tumor Board.
Isaac P Horn et al. JCO Precis Oncol 2024 8e2300466
Hereditary Cancer
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Results from the Delivery of a Community Health Worker Training to Advance Competencies in Cancer Genomics.
Caitlin G Allen et al. Public Health Genomics 2024 -
Downstream Revenue Generated by Patients With Hereditary Cancer in the Multigene Panel Testing Era.
Caitlin B Mauer Hall et al. JCO Oncol Pract 2024 OP2300817 -
Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients.
Rachel Hodan et al. J Community Genet 2024 -
The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis.
Edward Kurnia Setiawan Limijadi et al. PLoS One 2024 19(5) e0299276 -
Impact of barriers and motivators on intention and confidence to undergo hereditary cancer genetic testing.
Sarah Austin et al. J Genet Couns 2024 -
MAGENTA: a Multinational patient survey assessing the Awareness, perceptions and unmet needs in GENetic Testing and counselling among patients with breAst cancer.
Sarah Powell et al. Front Oncol 2024 141380349
Chronic Disease
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Clinical and genetic factors affecting diagnostic timeline of amyotrophic lateral sclerosis: a 15-year retrospective study.
Ton Fang et al. Neurol Res 2024 1-9 -
Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity.
Michael V Zuccaro et al. Curr Obes Rep 2024 -
Clinical phenotypes of adults with monogenic and syndromic genetic obesity.
Mila S Welling et al. Obesity (Silver Spring) 2024 -
Variants of Unknown Significance (VUS) in Maturity-Onset Diabetes of the Young (MODY): High Rate of Conundrum Resolution via VUS Reanalysis.
Guido Alarcon et al. Horm Res Paediatr 2024
Ethics/Policy/Law
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Understanding the Gap: A Cross-Sectional Survey of ELSI Scholars' Dissemination Practices and Translation Goals.
Deanne Dunbar Dolan et al. AJOB Empir Bioeth 2024 1-7
Practice
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Genetic tests as the strongest motivator of cooperation between participants and biobanks-Findings from cross-sectional study.
Anita Majchrowska et al. Front Genet 2024 151321690 -
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates.
Jane W Liang et al. NPJ Genom Med 2024 9(1) 30 -
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Adam S Gordon et al. Genet Med 2024 101142 -
The genetic landscape of substance use disorders.
Zachary F Gerring et al. Mol Psychiatry 2024 -
Candidate Genes from an FDA-Approved Algorithm Fail to Predict Opioid Use Disorder Risk in Over 450,000 Veterans.
Christal N Davis et al. medRxiv 2024 -
The Importance of Nutrigenetics and Microbiota in Personalized Medicine: From Phenotype to Genotype.
Gulsen Meral et al. Cureus 2024 16(5) e61256 -
Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.
Holly Ellard et al. Eur J Hum Genet 2024
Heart, Lung, Blood and Sleep Diseases
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Update on the practice of premarital screening for sickle cell traits in Africa: a systematic review and meta-analysis.
Priscilla Peter Dilli et al. BMC Public Health 2024 24(1) 1467
Newborn Screening
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Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening.
Yvonne Kellar-Guenther et al. Int J Neonatal Screen 2024 10(2)
Reproductive Health
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Is nuchal translucency of 3.0-3.4 mm an indication for cfDNA testing or microarray? - a multicenter retrospective clinical cohort study.
Magda Rybak-Krzyszkowska et al. Fetal Diagn Ther 2024 -
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Saurav Guha et al. Genet Med 2024 101137 -
Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.
Dongfang Lu et al. Front Med (Lausanne) 2024 111335649 -
Beyond severity: utility as a criterion for setting the scope of RGCS.
Lisa Dive et al. Eur J Hum Genet 2024 -
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers.
Shuo Zhang et al. J Med Genet 2024