Journal article
Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States
PEDIATRIC NEPHROLOGY, v 38(12), p4061
Dec 2023
PMID: 37430021
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Background Genetic testing is at the forefront of medical diagnosis, management, and preventative care particularly within the field of nephrology, but such testing can be prohibitively expensive for patients from disadvantaged backgrounds. This study is aimed at exploring how use of a low-cost, comprehensive commercial panel could increase availability of genetic testing to patients served by an inner-city American hospital and overcome many of the obstacles faced by these patients, including lack of availability of pediatric geneticist and genetic counselors, leading to delay in care and management, cost of genetic testing, and inaccessibility of genetic testing to underserved populations.Methods Single-center retrospective analysis patients who underwent genetic testing with NATERA Renasight Kidney Gene Panels run between November 2020 and October 2021.Results Genetic testing was offered to 208 patients, with 193 tests performed, 10 pending, and 4 deferred. Seventy-six patients were found to have results of clinical significance; 117 patients were found to have a negative result, of which 79 were found to have a variant of unknown significance (VUS); and 8 of these 79 VUS were later determined to be clinically significant leading to a change in management. Patient payment data breakdown showed that of 173, 68% used public insurance coverage, 27% used commercial or private insurance, and 5% were unknown.Conclusions Genetic testing with the NATERA Renasight Panel provided a high positivity rate for genetic testing using next generation sequencing. It also allowed us to provide access to genetic testing to a larger population, specifically underserved and underrepresented patients.
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Details
- Title
- Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States
- Publication Details
- PEDIATRIC NEPHROLOGY, v 38(12), p4061
- Publisher
- SPRINGER; NEW YORK
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Drexel University
- Web of Science ID
- WOS:001026602400001
- Scopus ID
- 2-s2.0-85164327605
- Other Identifier
- 991021860731904721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Pediatrics
- Urology & Nephrology