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Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States

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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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Author information

Authors and Affiliations

  1. St. Christopher’s Hospital for Children, Philadelphia, PA, USA

    Jordy Salcedo-Giraldo & German Lozano

  2. Drexel University College of Medicine, Philadelphia, PA, USA

    Jordy Salcedo-Giraldo, Brandon Whitmire & German Lozano

  3. Drexel University Dornsife School of Public Health, Philadelphia, PA, USA

    Brandon Whitmire

  4. Phoenix Children’s Hospital, Phoenix, AZ, USA

    Joshua Zaritsky

Authors
  1. Jordy Salcedo-Giraldo
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  2. Brandon Whitmire
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  3. German Lozano
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  4. Joshua Zaritsky
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Corresponding author

Correspondence to Jordy Salcedo-Giraldo.

Ethics declarations

Ethics approval

Approval for this retrospective study was obtained by the Institutional Review Board (IRB) of St. Christopher’s Hospital for Children and Drexel University Office of Research and Innovation on August 15, 2022. The IRB also determined at this time that the use of de-identified data for this study qualified for waiver of HIPAA Authorization. This study and its approval are filed under Protocol Number 2203009126.

Competing interests

Dr. Jordy Salcedo-Giraldo, Brandon Whitmire, and Dr. German Lozano have no conflicts of interest to disclose at this time. Dr. Joshua Zaritsky is a member of the NATERA Speaker Bureau.

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Salcedo-Giraldo, J., Whitmire, B., Lozano, G. et al. Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States. Pediatr Nephrol 38, 4061–4068 (2023). https://doi.org/10.1007/s00467-023-06057-y

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  • DOI: https://doi.org/10.1007/s00467-023-06057-y

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