Assessing Patient Preferences for Treatment Options for Pediatric Sickle Cell Disease: A Critical Review of Quantitative and Qualitative Studies

Sickle cell disease (SCD) resulting from a mutation of the β-globin gene results in sickle deformation of the red blood cell with consequent vaso-occlusion and intravascular hemolysis. SCD results in substantial morbidity, with impaired quality of life and premature mortality. Comprehensive and supportive care, disease modifying therapies and treatments with curative intent are each associated with asymmetrical costs, burden of care, and impact on survival and quality of life. There is thus a considerable decisional dilemma regarding treatment among patients and caregivers. The objective of this review is to evaluate the literature regarding quantitative and qualitative studies of patient preferences in therapy for SCD. Numerous survey-based studies have been performed evaluating SCD patients' treatment preferences. These studies are limited, however, as they are purely descriptive in nature with limited quantitative information on the relative value of treatment alternatives. Time trade-off and standard gamble studies and health state utility studies have also been utilized to quantify patient utility especially for curative hematopoietic cell transplant. However, these studies suffer from inaccurate assumptions regarding patient preferences. Qualitative studies have garnered the patient and caregiver perspective. Qualitative studies may be limited by selective and purposive sampling, and lack of representativeness due to sample size.