The use of haematopoietic stem cell transplantation in Fanconi anaemia patients: a survey of decision making among families in the US and Canada

Abstract

Background Fanconi Anemia (FA) is a rare genetic disorder associated with bone marrow failure (BMF), congenital anomalies, and cancer susceptibility. Stem cell transplantation (SCT) offers a potential cure for BMF or leukemia, but incurs substantial risks. Little is known about factors influencing SCT decision-making. Objective The study objective was to explore factors influencing FA patients’ and family members’ decision-making about SCT. Design Using a mixed-methods exploratory design, we surveyed U.S. and Canadian FA patients and family members who were offered SCT. Main variables studied Closed-ended survey items measured respondents’ beliefs about the necessity, risks, and concerns regarding SCT; multivariate logistic regression was used to examine the association between these factors and the decision to undergo SCT. Open-ended survey items measured respondents’ perceptions of factors important to the SCT decision; qualitative analysis was used to identify emergent themes. Results The decision to undergo SCT was significantly associated with greater perceived necessity (OR = 2.81, p = 0.004) and lower concern about harms of SCT (OR = 0.31, p = 0.03). Qualitative analysis revealed a perceived lack of choice among respondents regarding the use of SCT, which was related to physician influence and respondent concerns about patients’ quality of life. Conclusions Overall, study results emphasize the importance of the delicate interplay between provider recommendation of a medical procedure and patient/parental perceptions and decision-making. Findings can help providers understand the need to acknowledge family members’ perceptions of SCT decision-making and offer a comprehensive discussion of the necessity, risks, benefits, and potential outcomes.

Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned

“…Indeed, the question is whether more recent HSCT, performed according to 34 have improved the outcome of FA, as compared with natural history. One may anticipate that combining earlier therapeutic intervention with improved HSCT protocols may lead in the near future to improved long-term outcomes for FA patients, 35,36 especially if a lack of an increased risk of malignancies is confirmed.…”

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

“…Given the complex nature of the IBMFS and the varying risks, benefits, and limitations of existing treatment options (e.g., androgen therapy, hematopoietic stem cell transplantation), individuals affected with an IBMFS must make numerous challenging decisions regarding the medical management of their disorder (e.g., Hamilton et al, 2013; Hutson et al, 2013). These decisions demand a minimum level of genetic literacy, or sufficient knowledge and appreciation of genetics principles, to allow informed decision-making for personal well-being (Bowling et al, 2008).…”

Decision making in pediatric hematopoietic cell transplantation: Influential factors vary among diseases

“…Some stakeholders actually preferred supportive care strategies over HCT for SCD and MPS1 . Stakeholders considering HCT for malignancy felt there was no viable alternative outside of HCT, as death was the only alternative . Additionally, some with malignancy recognized HCT as a part of their upfront treatment plan and felt there was no decision to make at the time of HCT .…”

“…Additionally, some with malignancy recognized HCT as a part of their upfront treatment plan and felt there was no decision to make at the time of HCT . For those with FA, some felt there was an option, while others did not …”