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How neonatologists use genetic testing: findings from a national survey

Journal of Perinatology volume 42, pages 260–261 (2022)Cite this article

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Genetic testing is increasingly common in the neonatal intensive care unit (NICU) given the high prevalence of genetic conditions and risks [1], but how neonatologists use testing remains unclear. Critics have warned that the frequency and complexity of genetic tests may outpace the necessary supports to render results useful [2]. We therefore conducted a national survey of neonatologists regarding practices for genetic testing and counseling.

In the fall of 2020, we emailed a 16-item questionnaire on how neonatologists use genetic tests to approximately 3 600 neonatologists through the listservs of the American Academy of Pediatrics Section on Neonatal and Perinatal Medicine (SONPM) and the Children’s Hospitals Neonatal Consortium (CHNC). Data were collected and managed using REDCap tools hosted at the Children’s Hospital of Philadelphia (CHOP).

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All data are available upon request.

References

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Acknowledgements

This study was supported by T32 Training Grant No. HG009496 from the National Human Genome Research Institute (K.P.C.).

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Authors and Affiliations

  1. The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Katharine Press Callahan, John Flibotte, Cara Skraban, Katherine Taylor Wild, Steven Joffe, David Munson & Chris Feudtner

  2. Department of Medical Ethics and Health Policy, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Katharine Press Callahan, Steven Joffe & Chris Feudtner

Authors
  1. Katharine Press Callahan
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  2. John Flibotte
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  3. Cara Skraban
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  4. Katherine Taylor Wild
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  5. Steven Joffe
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  6. David Munson
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  7. Chris Feudtner
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Contributions

KPC conceptualized and designed the study, created the study instrument, collected and analyzed the data, drafted the initial manuscript, and reviewed and revised the manuscript. CF assisted in designing the study, creating the study instrument, analyzing the data, and reviewed and revised the manuscript. SJ, DM, KTW, and CS assisted in creating the study instrument, interpreting data, and reviewing and revising the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Katharine Press Callahan.

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Competing interests

Dr. Joffe received research funding from Pfizer through the University of Pennsylvania until May 2020. Drs. Callahan, Flibotte, Skraban, Wild, Munson, and Feudtner declare no potential competing interests.

Ethics declaration

The Children’s Hospital of Philadelphia Institutional Review Board deemed the study exempt from the requirement for approval.

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Callahan, K.P., Flibotte, J., Skraban, C. et al. How neonatologists use genetic testing: findings from a national survey. J Perinatol 42, 260–261 (2022). https://doi.org/10.1038/s41372-021-01283-4

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  • DOI: https://doi.org/10.1038/s41372-021-01283-4

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