Details

Autor(en) / Beteiligte

• Sam, Jordan
• Reble, Emma
• Kodida, Rita
• Shaw, Angela
• Clausen, Marc
• Salazar, Mariana Gutierrez
• Shickh, Salma
• Mighton, Chloe
• Carroll, June C.
• Armel, Susan Randall
• Aronson, Melyssa
• Capo-Chichi, José-Mario
• Cohn, Iris
• Eisen, Andrea
• Elser, Christine
• Graham, Tracy
• Ott, Karen
• Panchal, Seema
• Piccinin, Carolyn
• Schrader, Kasmintan A.
• Kim, Raymond H.
• Lerner-Ellis, Jordan
• Bombard, Yvonne

Titel

A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings

Ist Teil von

• Human genetics, 2022-12, Vol.141 (12), p.1875-1885

Ort / Verlag

Berlin/Heidelberg: Springer Berlin Heidelberg

Erscheinungsjahr

2022

Link zum Volltext

Quelle

Springer Nature

Beschreibungen/Notizen

• Genomic sequencing (GS) can reveal secondary findings (SFs), findings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically significant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically significant primary and SF results. A genomic test report with accompanying patient and provider letters were developed in three phases: review of current clinical reporting practices, consulting with genetic and non-genetics experts, and iterative refinement through circulation to key stakeholders. The genomic test report and consultation letters present a myriad of clinically relevant GS results in distinct, tabulated sections, including primary (cancer) and secondary findings, with in-depth details of each finding generated from exome sequencing. They provide detailed variant and disease information, personal and familial risk assessments, clinical management details, and additional resources to help support providers and patients with implementing healthcare recommendations related to their GS results. The report and consultation letters represent a comprehensive approach to communicate all clinically significant SFs to patients and providers, facilitating clinical management of GS results.