Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

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.

Challenges of Integrating APOL1 Genetic Test Results into the Electronic Health Record

“…Challenges include the large size of certain results (e.g., whole genome sequencing) and the lack of (or adoption of) standards to represent the results for both transmission to and display in the EHR. [4][5][6][7] Successful studies have provided strategies for transmitting genomic data using the Fast Healthcare Interoperability Resources (FHIR) standard, 8 integrating genetic and genomic results in the EHR, 9 and their subsequent use to trigger CDS for genetics care delivery, 10 pharmacogenomics, 11,12 and clinical trial matching for molecular tumor boards. 13 Genetic test results must be integrated into the EHR in a way that enables providers and patients to access the results as they would with any other test result in their current workflows.…”

Patient Portal Privacy: Perspectives of Adolescents and Emerging Adults Living with HIV and the Parental/Guardian Role in Supporting Their Care

“…strategies to protect patient confidentiality, such as modifying clinical documentation practices within the portal. 30 Such findings highlight the responsibility of HCWs and electronic health record portal administrators to understand the various patient preferences for sharing access with parents/guardians.…”

Future perspectives on neonatal brain injury

“…Several ethical issues will arise regarding acceptable quality of life, who should make decisions about life-sustaining treatments, and when treatment should be withheld or withdrawn [40,41]. There will be ethical considerations surrounding the appropriate use of genetic information, who should have access to it, and how to safeguard the privacy of the neonate and its family [42]. The best interests of the neonate shall be prioritized while respecting various cultural customs and traditions [43].…”