Different sources of uncertainty have different effects on Fanconi anemia treatment decisions, which may be mediated by parents' emotional reactions. Further research is needed to elucidate these effects and help Fanconi anemia families cope with uncertainty.

Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders’ rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57% of items assessing general genetic knowledge and 49%–59% of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resources.

Fertility preservation (FP) for patients with cancer is an emerging field. With the advancement of technology, patients may face a complex decision-making process about whether to preserve fertility. The purpose of this article is to explore how young women with cancer perceive patient–provider communication in FP decision making. In this study, 25 women between the ages of 18 and 39 were interviewed retrospectively. They were interviewed one time to learn about their decision-making process related to FP. Results of this analysis indicate that patients seek support and involvement from providers throughout the process of decision making. They prefer providers to be directive when referring to the fertility clinic. Later in the process, they expect a supportive style of communication from providers. Patient-accessible language, supportive and reassuring styles of communication, and an existing relationship with providers may enhance well-being of the patients.

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