Table 1.

Content of the genomic results e-Booklet by section.

Section and Purpose	Content
Title Page Purpose: To provide organization and ease navigation.	•Table of contents with intra-document links •Instructions for use •Care provider contact information
Summary Page Purpose: To allow for efficient customization (via auto-population of expanded educational sections) and to serve as an extractable shareable document.	High-level summary of: •Test type: Exome vs. Genome vs. panel; singleton vs. trio •General outcomes, with impacted gene(s) and variants(s) and associated medical conditions for positive findings. •Whether there were any secondary/incidental findings
Background Genomic Information Purpose: To document testing and prime users for information about their results.	•Detailed general information on health, genomics, testing, and uncertainty. •Study/service-specific information. •Detailed personalized information on the type of testing received.
Genomic Testing Results Purpose: To deliver the results stepwise and in plain language as to help decipher a laboratory-generated genomic testing report.	For positive results only: the impacted gene and its known role; the variant and its associated medical condition; the laboratory classification, the clinical interpretation, and recommendations; inheritance and risk. For negative results only: The lack of genetic etiology versus the lack of ability to detect genetic etiology. For both: Limitations in analysis and interpretation, and the opportunity for re-testing or reanalysis in the future.
Resources and Next Steps Purpose: To provide non-judgmental and non-prescriptive direction and instruction for users seeking further support and resources.	•How to share results with family and healthcare providers. •Patient and provider tips and caveats. •General guidance in seeking support groups on social media, reliable information, government and financial resources, alliances and organizations, genetic databases, health management tools. •Results-specific resources recommended by care providers. •Patient-initiated next steps, including conversational prompts for patient-provider interactions.