Creating Sibling Donors for Hematopoietic Cell Transplantation in Sickle Cell Disease: A Study of Patient and Caregiver Views.

Allogeneic hematopoietic cell transplantation (HCT) is the only proven cure for pediatric patients with sickle cell disease (SCD). Because rates of disease-free survival are highest with human-leukocyte-antigen-(HLA)-matched siblings, the paucity of suitable donors has limited its use. Hundreds of cases of HLA-matched embryo selection have been reported using in-vitro fertilization (IVF) combined with pre-implantation genetic diagnosis (PGD) for diseases that are significantly less prevalent than SCD. Despite the wide availability of these procedures, few families of children with SCD have undergone IVF and PGD for HCT purposes.

To elicit SCD patient and caregiver understandings of SCD, IVF, PGD, and HCT, including their opinions on using these technologies to produce genetically ideal HCT donors for existing children with SCD.

Adult patients and parents of children with the Hb-SS genetic variant of SCD were recruited from outpatient pediatric hematology clinics and the pediatric inpatient unit of a New York City hospital. Participants first completed a questionnaire and received written information on IVF, PGD, and HCT. A 40-minute, semi-structured interview was conducted at a following appointment. Individual interviews were recorded, transcribed, and analyzed using qualitative methods with three independent coders.

To date, 23 participants have completed the interview process. In this ethnically diverse sample, 14 participants had Medicaid, 5 had Medicare, 3 had private medical insurance, and 1 had no insurance. 7 participants were unaware of HCT as a potential cure for pediatric SCD, and 17 did not realize IVF and PGD could be combined to prevent SCD before pregnancy. Only 2 had heard of IVF/PGD being used to select HLA-matched embryos for potential HCT of an existing child with SCD.

After receiving basic information, the participants unanimously supported discussing them to all SCD families as a potential cure of SCD. As anticipated, a significant minority (6) of participants expressed strong ethical, religious, and/or moral misgivings about undergoing IVF/PGD for HCT purposes and stated that, if offered, they would likely decline the procedures. However, the majority of participants (17) concluded that, while the rights of the donor child should be considered, the potential to perform curative HCT for a child with SCD would justify their decision to undergo IVF and PGD. Regardless of their position, all participants identified the primary barrier to accessing IVF and PGD as financial. Interestingly, preliminary data analysis suggests that the procedures would increase in acceptability if IVF and PGD were made financially accessible via medical insurance coverage.

The selection and implantation of HLA-matched embryos for the purpose of collecting ideal umbilical cord blood for HCT has engendered worldwide debate. However, these discussions rarely incorporate the perspectives of those who would directly benefit from these procedures: people who suffer from diseases curable by HCT or have children who do. Though our single-institution study was limited by our reliance on hypothetical scenarios to elicit participants' opinions, our interviews voiced the attitudes that 23 SCD patients or their families had about IVF, PGD, and HCT. As anticipated, opinions were divided. Yet, regardless of their beliefs, the sample unanimously claimed that lack of awareness and high cost are the two fundamental barriers that patients and families affected by SCD face to accessing these procedures. These findings suggest not only that medical professionals have neglected to adequately educate the SCD population about available treatment options, but that medical insurance has failed to provide adequate coverage for preventive procedures and curative therapies for SCD patients. Only through increased patient education and more comprehensive medical insurance can SCD families make informed decisions that could impact the prognosis of their, or their children's, disease.

No relevant conflicts of interest to declare.