Genetic Information‐Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes

Abstract

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.

Parents’ Understanding of Genetics and Heritability

“…Analysis of knowledge questions found that participants with higher levels of education scored higher in tests of genetic knowledge. The finding that education levels are associated with knowledge of genetics is consistent with that of previous research (Haga et al 2013a;Hamilton et al 2015;Henneman et al 2004;Smerecnik et al 2008). Interestingly participants' confidence in their genetic knowledge was negatively related to scores on genetic knowledge questions.…”

“…When considering factors that may contribute to differences in knowledge or perspectives, higher levels of education are most tightly linked to more advanced knowledge of genetics and heritability (Haga et al 2013a;Hamilton et al 2015;Henneman et al 2004;Smerecnik et al 2008). Members of the public derive most of their knowledge from the internet and health care providers, particularly genetic counselors and family practitioners (Bannon et al 2014).…”

“…Members of the public derive most of their knowledge from the internet and health care providers, particularly genetic counselors and family practitioners (Bannon et al 2014). Written materials, support groups, and medical journals were also referenced, although less often (Bannon et al 2014;Hamilton et al 2015). Finally, individuals with a family history of disease or communities with known genetic diseases may have more knowledge due to personal experience (Tabor et al 2011).…”

How Are Information Seeking, Scanning, and Processing Related to Beliefs About the Roles of Genetics and Behavior in Cancer Causation?

“…Information seeking was related to increased genetic knowledge among family members and patients with inherited bone marrow failure syndromes in one study (Hamilton et al, 2015), and increased awareness of direct-to-consumer (DTC) genetic testing in another (Agurs-Collins et al, 2015). Research about the association between information scanning and genetics-related knowledge is lacking, and similarly, no research has examined how information seeking or scanning may be related to the endorsement of multifactorial beliefs about cancer.…”

Discussing and managing hematologic germ line variants

“…1 However, awareness that cancer can be related to inherited factors is now increasing significantly in the general population, and rather than adding to the burden on families, discussing family history may be a welcomed chance to address concerns and questions. 4,5 Key information to gather when collecting family history includes any occurrence of cancer in first-, second-, and ideally third-degree relatives. Documentation in the medical record should include all cancers and should also include the type, age at diagnosis, and parental lineage.…”