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Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics

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Abstract

Improvements in technology used for genetic testing have yielded an increased numbers of variants that are identified, each with a potential to return uninformative results. While some genetics providers may expect patients to be responsible for staying abreast of updates to their genetic testing results, it is unknown whether patients are even aware of the possibility of variant reclassification. Little research has assessed the comprehension and attitudes of parents of pediatric patients regarding reclassification of variants of uncertain significance (VUS). Semi-structured telephone interviews were conducted with parents (n = 15) whose children received a VUS from genetic testing in either the pediatric neurogenetics or developmental pediatrics clinics at Riley Hospital for Children in Indianapolis, Indiana. Most participants expressed understanding of the uncertainty surrounding their child’s VUS test result. However, nearly half of participants shared that they had no prior knowledge of its potential reclassification. When asked whose responsibility it is to keep informed about changes to their child’s VUS status, some participants stated that it belonged solely to healthcare providers — a distinctive finding of our study — whereas others felt that it was a joint responsibility between providers and the parents. We additionally found that some patients desire a support group for individuals with VUS. These results provide insight into the importance of pretest genetic counseling and the need for increased social and informational support for parents of children who receive inconclusive genetic testing results. We conclude that relying solely on the patient or guardian to manage uncertain results may be insufficient.

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Acknowledgements

The authors would like to thank the parents who participated in interviews as part of this study. We also thank Laurence Walsh, Celanie K Christensen, and Kerry White for their help in identifying eligible patients. Also, we thank the Indiana University School of Medicine Genetic Counseling Graduate Program for providing funding for incentives for study participants. The research presented in the paper was conducted while the first author was in training.

Funding

University School of Medicine Genetic Counseling Graduate Program.

Not applicable.

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Authors and Affiliations

  1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA

    Amy Margolin, Benjamin M. Helm, Kayla Treat & Sandra K. Prucka

  2. Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN, USA

    Colin M. E. Halverson

  3. Department of Medicine, Indiana University School of Medicine, 410 W. 10th St., HITS 3131, Indianapolis, IN, 46202, USA

    Colin M. E. Halverson

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  1. Amy Margolin
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Contributions

Authors Amy Margolin, Sandra K. Prucka, and Colin M. E. Halverson confirm that they had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Correspondence to Colin M. E. Halverson.

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Margolin, A., Helm, B.M., Treat, K. et al. Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics. J Community Genet 12, 663–670 (2021). https://doi.org/10.1007/s12687-021-00552-1

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