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.

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A 28-year-old Hispanic woman presented to the emergency department with pneumonia and bilateral pulmonary oedema, requiring admission to the intensive care unit. Additional history included type 1 diabetes mellitus, End Stage Renal Disease on haemodialysis and Hashimoto’s disease. On further diagnostic evaluation, she was found to have systemic lupus erythematosus (SLE) with overlap syndrome. The goal of this case report was twofold: to share our holistic investigative processes and to explore how racial identity and experiences play a role in health disparities present in SLE. The diagnostic process was difficult because of language and socioeconomic barriers our patient experienced. Additionally, SLE in the Hispanic population has only recently been researched, limiting specifics about presentation and disease course. In the Hispanic population, SLE has increased morbidity and mortality when compared with the Caucasian population. Thus, our patient’s case highlights the need for holistic practices when diagnosing patients, particularly in historically and presently marginalised identities.