Appl Clin Inform 2020; 11(05): 755-763
DOI: 10.1055/s-0040-1718753
State of the Art/Best Practice Paper

Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

Shibani Kanungo
1  Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, Michigan, United States
,
Jayne Barr
2  Internal Medicine-Pediatrics, MetroHealth, Cleveland, Ohio, United States
,
Parker Crutchfield
3  Medical Ethics, Humanities, and Law, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, Michigan, United States
,
Casey Fealko
1  Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, Michigan, United States
,
Neelkamal Soares
1  Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, Michigan, United States
› Author Affiliations
Funding None.

Abstract

Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results.

Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians.

Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data.

Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

Protection of Human and Animal Subjects

No human subjects were involved in the preparation of this manuscript.




Publication History

Received: 24 June 2020

Accepted: 08 September 2020

Publication Date:
11 November 2020 (online)

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany