How I Communicate with Patients and Families about Germline Genetic Information

• Published in: Blood 2023-04
• Main Authors: Hamilton, Kayla V, Fox, Lucy C, Nichols, Kim E
• Format: Article
• Language: English
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.2022017379

As germline genetic testing is increasingly integrated into the clinical care of patients with hematologic malignancies, it is important for hematologists to effectively communicate with patients and families about the genetic testing process and to relay the results in a concise and understandable manner. Effective communication facilitates trust between patients and providers and allows patients to feel empowered to ask questions and actively participate in their healthcare. Especially for inherited conditions, patient understanding of germline genetic information is critical as it enables them to share this information with at-risk relatives, thereby promoting cascade testing and providing potentially life-saving information to family members who may be similarly affected. Accordingly, a hematologist's skills in understanding the importance and implications of germline genetic information and the ability to convey this information in patient-friendly language is a critical first step and can have a far-reaching impact. In this "How I Treat" article, we outline a straightforward approach to discussing genetic information and provide the reader with practical tips that can be used when consenting patients to germline genetic testing and disclosing subsequent test results. We also review special considerations and ethical concerns arising when offering genetic evaluation and germline testing to patients and related donors for allogeneic hematopoietic stem cell transplantation.