The diagnostic trajectory of infants and children with clinical features of genetic disease

BE Schroeder, N Gonzaludo, K Everson… - NPJ Genomic …, 2021 - nature.com
We characterized US pediatric patients with clinical indicators of genetic diseases, focusing
on the burden of disease, utilization of genetic testing, and cost of care. Curated lists of …

From theory to reality: establishing a successful kidney genetics clinic in the outpatient setting

AL Lundquist, RC Pelletier, CE Leonard… - Kidney360, 2020 - journals.lww.com
Background Genetic testing in nephrology is increasingly described in the literature and
several groups have suggested significant clinical benefit. However, studies to date have …

Toward representative genomic research: the children's rare disease cohorts experience

ZJ Frazier, E Brown, S Rockowitz… - … Advances in Rare …, 2023 - journals.sagepub.com
Background: Due to racial, cultural, and linguistic marginalization, some populations
experience disproportionate barriers to genetic testing in both clinical and research settings …

Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system

P Grant, CB Cook, S Langlois, J Nuk… - Clinical …, 2023 - Wiley Online Library
When genetic tests are not funded publicly, out‐of‐pocket (OOP) pay options may be
discussed with patients. We evaluated trends in genetic testing and OOP pay for two publicly …

SNP array screening and long range PCR-based targeted next generation sequencing for autosomal recessive disease with consanguinity: insight from a case of …

F Nomura, A Shimizu, S Togi, H Ura, Y Niida - Genes, 2023 - mdpi.com
Advances in genetic technologies have made genetic testing more accessible than ever
before. However, depending on national, regional, legal, and health insurance …

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic

B Parekh, A Beil, B Blevins, A Jacobson, P Williams… - Genes, 2023 - mdpi.com
The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan
Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with …

Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas

H Streff, CL Uhles, H Fisher, R Franciskovich… - Genetics in …, 2023 - Elsevier
Purpose Little is known about how Medicaid coverage policies affect access to genetic tests
for pediatric patients. Building upon and extending a previous analysis of prior authorization …

Improving access to exome sequencing in a medically underserved population through the Texome Project

B Vuocolo, RJ German, SR Lalani, CN Murali… - Genetics in …, 2024 - Elsevier
Purpose Genomic medicine can end diagnostic odysseys for patients with complex
phenotypes; however, limitations in insurance coverage and other systemic barriers …

Understanding the clinical utility of genome sequencing in critically ill newborns

JD Lantos, L Brunelli, RZ Hayeems - The Journal of Pediatrics, 2023 - Elsevier
Diagnostic genome sequencing (GS) in newborns may have many benefits. More accurate
diagnosis could spur the development of innovative genomic therapies. A precise diagnosis …

A Rare Presentation of Aggressive Renal Cell Carcinoma and the Utility of Early Molecular Testing in Rapidly Progressing Malignancies: A Case Report

DE McLoughlin, N Chevalier, E Choy, GM Cote… - The …, 2023 - academic.oup.com
In rapidly progressing cancers, appropriate selection of first-line therapy is essential in
prolonging survival. Alongside immunohistochemistry (IHC), comprehensive genomics …