Abstract
Cancer genetic testing is unlike other medical testing because results may guide recommendations not only for the patient, but also their family members. For this reason, it is important to understand how families communicate about hereditary cancer risks and identify areas of need. This study interviewed women with a PALB2 mutation about risk disclosure and cascade testing within their families. We found that our participants generally wanted their relatives to be informed about the PALB2 mutation for the good of their health or because of a sense of obligation. Participants reported factors such as closeness of relation, the age and/or gender of relatives, and difficult emotions influenced their disclosure decisions or experiences. There are both emotional barriers, such as fear and guilt, and logistical barriers, such as physical access and health insurance, to cascade testing for family members. Based on participants’ experiences, we identified areas in which genetic counselors and other healthcare professionals can offer additional support during the family communication process. Many participants found it difficult to identify reliable information to educate themselves and their families about PALB2. Participants also identified support as a necessary resource in the process of risk disclosure. Healthcare professionals should be prepared to provide PALB2-specific informational resources in patient-friendly language, support resources, and family communication resources. Cascade testing is essential to maximize the greatest benefits from genetic testing. As we continue to learn more about health management for individuals with hereditary cancer risks, we must investigate approaches to increasing cascade testing in families.