This thesis explores stakeholders' perspectives on decision making in hematopoietic stem cell transplantation (HSCT). HSCT is an established, curative treatment option for patients with a... Show moreThis thesis explores stakeholders' perspectives on decision making in hematopoietic stem cell transplantation (HSCT). HSCT is an established, curative treatment option for patients with a hematologic disease, inborn error of immunity or metabolism, or bone marrow failure syndrome. Despite improved outcomes, HSCT carries significant risks, making decision-making complex, especially when comparing oncological or acute non-oncological diseases with non-acute conditions. For oncological or acute cases, HSCT is often a life-saving option. At the same time, it may be chosen over conservative treatments due to its curative potential in non-acute diseases like transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD). However, while HSCT is standard for TDT, no global consensus exists for its use in SCD, leading to varied clinical practices and personal preferences. This creates a need for shared decision-making (SDM), involving patients and healthcare professionals (HCPs) in the treatment process, especially in cases where there is no clear best option. This thesis aims to enrich the existing knowledge on decision making for (pediatric) patients with in-depth insights into the perspectives of patients, caregivers, and healthcare professionals considering an HSCT when there is no clear-cut answer on the best option for the individual patient. Show less
Mekelenkamp, H.; Zanten, H. van; Vries, M. de; Lankester, A.; Smiers, F.; SCORE Consortium 2021
Hematopoietic stem cell transplantation decision-making for hemoglobinopathy patients is a complex process, and it remains difficult for health care professionals to decide whether and when a... Show moreHematopoietic stem cell transplantation decision-making for hemoglobinopathy patients is a complex process, and it remains difficult for health care professionals to decide whether and when a hematopoietic stem cell transplantation should be offered. Gaining insight into health care professionals' considerations is required to understand and optimize this decision-making process. A qualitative interview study using semi-structured interviews with eighteen health care professionals. Data were thematically analyzed. Two main themes emerged from the data: (1) Experiencing the influence of a frame of reference and (2) Feeling responsible for a guided decision-making. The frame of reference, meaning the health care professionals' knowledge and experiences regarding hematopoietic stem cell transplantation, influenced the guided decision-making process. Subsequently, three subthemes evolved from the second theme: (a) weighing up disease severity against possible complications, (b) making an effort to inform, and (c) supporting the best fitting decision for the individual patient. The health care professionals' frame of reference determined the hematopoietic stem cell transplantation decision-making process. This demands reflection on the health care professionals' own frame of reference and its influence on decision-making. Furthermore, reflection on the frame of reference is needed by exchange of knowledge and experiences between referring and referred-to healthcare professionals in an open and two-way direction. The transplantation teams have a responsibility of keeping the frame of reference of their referring colleagues up to date and referring health care professionals should share their feelings regarding hematopoietic stem cell transplantation. To guide patients, a shared decision-making approach is supportive, in which eliciting the patients' preferences is highly important. Health care professionals can refine the decision-making process by guiding patients in eliciting their preferences and including these in the decision. Show less
Hemoglobinopathies (HbP) are recessive hereditary disorders of hemoglobin, characterized by microcytic hypochromic anemia. HbP diagnostics encompasses three specialties: hematological, biochemical... Show moreHemoglobinopathies (HbP) are recessive hereditary disorders of hemoglobin, characterized by microcytic hypochromic anemia. HbP diagnostics encompasses three specialties: hematological, biochemical and molecular testing. Results of all tests together form the complete diagnosis. The main objective of this thesis was to improve post- and prenatal diagnostics of the hemoglobinopathies. Several molecular assays have been designed, tested and validated. In addition, a number of informative hemoglobinopathy cases have been studied in detail. Diagnostics for hemoglobinopathies is strongly improved over the recent years. In particular the implementation of the MLPA technique made it possible to detect deletions and duplications in the globin gene clusters in patients who remain undiagnosed by applying the conventional techniques. The aCGH technology was developed in order to characterize the breakpoints of novel deletions detected by MLPA more precisely. This has led to the design of several relatively simple gap-PCR assays, which are useful in laboratories where MLPA and aCGH is not available. In addition, gap-PCR can be used for quick screening for the more locally occurring deletions or in family studies. A non-invasive prenatal diagnosis assay for hemoglobinopathies was developed by combining the PAP and MCA techniques. This method will be implemented in the current flow for prenatal diagnosis and will eventually make 50% of the invasive procedures redundant. Show less
