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A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective

Abstract

Purpose

Genetic laboratory test reports can often be of limited computational utility to the receiving clinical information systems, such as clinical decision support systems. Many health-care interoperability (HC) standards aim to tackle this problem, but the perceived benefits, challenges, and motivations for implementing HC interoperability standards from the labs’ perspective has not been systematically assessed.

Methods

We surveyed genetic testing labs across the United States and conducted a semistructured interview with responding lab representatives. We conducted a thematic analysis of the interview transcripts to identify relevant themes. A panel of experts discussed and validated the identified themes.

Results

Nine labs participated in the interview, and 24 relevant themes were identified within five domains. These themes included the challenge of complex and changing genetic knowledge, the motivation of competitive advantage, provided financial incentives, and the benefit of supporting the learning health system.

Conclusion

Our study identified the labs’ perspective on various aspects of implementing HC interoperability standards in producing and communicating genetic test reports. Interviewees frequently reported that increased adoption of HC standards may be motivated by competition and programs incentivizing and regulating the incorporation of interoperability standards for genetic test data, which could benefit quality control, research, and other areas.

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Data Availability Statement

Institutional review board (IRB) restrictions do not permit the sharing of individual data. However, aggregate data are available within the article and in the Supplemental material.

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Acknowledgements

We thank all the participants who took part in the study. C.C.M. was funded by the Pediatric Cancer Program, which is supported by the Intermountain Healthcare and Primary Children’s Hospital Foundations and the Department of Pediatrics at the University of Utah.

Author information

Affiliations

Authors

Contributions

Conceptualization: A.K., J.H.G., M.S.W., G.D.F., S.B.B., S.M.H. Data curation: A.K. Formal analysis: A.K., C.C.M., J.H.G., M.S.W., G.D.F., B.R.J., S.B.B., S.M.H. Investigation: A.K., C.C.M., J.H.G., M.S.W., G.D.F., B.R.J., S.B.B., S.M.H. Methodology: A.K., J.H.G., M.S.W., G.D.F., S.B.B., S.M.H. Resources: A.K., J.H.G., M.S.W., S.M.H. Supervision: S.M.H. Validation: A.K., C.C.M., J.H.G., M.S.W., G.D.F., B.R.J., S.B.B., S.M.H. Writing—original draft: A.K., S.M.H. Writing—review & editing: A.K., C.C.M., J.H.G., M.S.W., G.D.F., B.R.J., S.B.B., S.M.H.

Corresponding author

Correspondence to Aly Khalifa.

Ethics declarations

Competing interests

B.R.J. receives salary support from ARUP Laboratories, a nonprofit enterprise of the University of Utah. S.B.B. is an employee of Genome Medical Incorporated and he has stock options in the company. C.C.M. was funded by the Pediatric Cancer Program, which is supported by the Intermountain Healthcare and Primary Children’s Hospital Foundations and the Department of Pediatrics at the University of Utah. The other authors declare no competing interests.

Ethics Approval

The present study was approved as exempt by the University of Utah Institutional Review Board in May 2018. The consent process was handled as follows: The preinterview survey included the following statement at the beginning of the survey: “Consent information—by completing this survey you agree and consent to participate in this study and to use the collected information (except contacts and identifiers) for research purposes.” For the semistructured interview, the interviewer had declared the following statement before starting the interview: “By agreeing to participate in this study interview, you consent for us to use the provided data for this research. This study is completely voluntary and you may withdraw at any point. Do you consent to participate?” All interviewees had agreed to participate.

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Khalifa, A., Mason, C.C., Garvin, J.H. et al. A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective. Genet Med (2021). https://doi.org/10.1038/s41436-021-01301-y

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