title: 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 anaemia (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 leukaemia, but incurs substantial risks. Little is known about factors influencing SCT decision making.
  
  
  OBJECTIVE
  The study objective was to explore factors influencing patients' with FA and family members' decision making about SCT.
  
  
  METHODS
  Using a mixed-methods exploratory design, we surveyed US and Canadian patients with FA and family members who were offered SCT.
  
  
  METHODS
  Closed-ended survey items measured respondents' beliefs about the necessity, risks and concerns regarding SCT; multivariable 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.
authors.affiliation: College of Nursing, University of Tennessee, Knoxville, TN, USA.|Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services (DHHS), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, MD, USA.
authors.forename: Sadie P
authors.initials: SP
authors.lastname: Hutson
authors.affiliation: Center for Outcomes Research and Evaluation, Maine Medical Center Research Institute, Scarborough, ME, USA.
authors.forename: Paul K J
authors.initials: PK
authors.lastname: Han
authors.affiliation: Cancer Prevention Fellowship Program, Center for Cancer Training, NCI, NIH, DHHS, Rockville, MD, USA.
authors.forename: Jada G
authors.initials: JG
authors.lastname: Hamilton
authors.affiliation: Department of Psychology, Kent State University, Kent, OH, USA.
authors.forename: Sean C
authors.initials: SC
authors.lastname: Rife
authors.affiliation: Department of Pediatrics, University of Illinois College of Medicine at Peoria, Peoria, IL, USA.
authors.forename: Mohamad M
authors.initials: MM
authors.lastname: Al-Rahawan
authors.affiliation: Science of Research and Technology Branch, Division of Cancer Control and Population Sciences, NCI, NIH, DHHS, Rockville, MD, USA.
authors.forename: Richard P
authors.initials: RP
authors.lastname: Moser
authors.affiliation: College of Nursing, East Tennessee State University, Johnson City, TN, USA.
authors.forename: Seth P
authors.initials: SP
authors.lastname: Duty
authors.affiliation: Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USA.
authors.forename: Sheeba
authors.initials: S
authors.lastname: Anand
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services (DHHS), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, MD, USA.
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
mesh_terms: D000293:Adolescent; D000328:Adult; D002170:Canada; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003657:Decision Making; D005190:Family / Q000523:psychology*; D005199:Fanconi Anemia / Q000628:therapy*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D010817:Physician-Patient Relations; D036301:Qualitative Research; D011788:Quality of Life; D012307:Risk Factors; D014481:United States; D055815:Young Adult
keywords: Fanconi anaemia; decision making; genetics; psychosocial factors; stem cell transplantation