Sickle Cell Disease Treatments and Education

Sickle Cell Anemia: Ethical Considerations
The only known cure for sickle cell disease is hematopoietic stem cell transplant (HSCT). Survival rates after HSCT are high, almost 100%, with cure rates of more than 90% (Nickel, Hendrickson & Haight, 2014; Nickel & Kamani, 2017). To receive HSCT most successfully, the donor is ideally a HLA-identical sibling. This raises several ethical concerns. The most pressing of all ethical concerns related to HSCT is whether the procedure should be offered to children with “less severe” cases of sickle cell disease (Nickel, Hendrickson & Haight, 2014; Nickel & Kamani, 2017). Less severe cases have been defined as those that do not have overt complications. However, Nickel, Hendrickson & Haight, (2014) point out that many “less severe” cases may become more severe over time, compelling healthcare workers to offer HSCT to all children with sickle cell disease. The same issue of access to HSCT is related to adult cases of sickle cell, cases from low income countries, or cases where the potential recipient has “social problems” that might significantly impact health outcomes (Nickel & Kamani, 2017). Another potential ethical issue has to do with the deliberate use of reproductive technologies to create the HLA-identical donor (Nickel & Kamani, 2017). Healthcare workers should take care to preserve the principles of procedural and distributive justice in healthcare, while also ascribing fully to the fundamental tenets of beneficence, patient autonomy, and non-maleficence. Resources are scarce with HSCT, until new research in cryobiology and cryopreservation reduces the ethical and financial burden, as well as the physical and psychological burden of donor transplants.
Genetics for Improving Health Outcomes
Sickle cell disease is “characterized by a single point mutation in the seventh codon of the ?-globin gene,” (Hoban, Cost, Mendel, et al, 2015, p. 2597). As a genetic condition, sickle cell disease is responsive to genetic interventions. Few have been widely tested. One study shows the potential efficacy for zinc finger nucleases (ZFNs) to “precisely cleave and disrupt the erythroid enhancer of the BCL11A gene,” (Holmes, Reik, Rebar, et al, 2017, p. 2066). However, few studies offer promising solutions for reducing overall costs of treatment, with HSCT remaining the only viable intervention. The cultivation of specialized stem cells for the treatment of sickle cell disease may be on the horizon, but in the meantime, cryopreservation of patients’ oocytes is a means of at least preserving the patient’s fertility after treatment for the disease (Lavery, Islam, Hunt, et al, 2016). Genetic testing may also help reduce overall costs, while also improving public health outcomes. Predating the ZFN research being conducted by Holmes, Reik, Rebar, et al (2017), Hoban, Cost, Mendel et al (2015) also found “site-specific correction of the sickle mutation in hematopoietic stem cells would allow for permanent production of normal red blood cells,” (p. 2597). To date, no genetic treatments for prevention or intervention promise cost reductions.
Change Management
Healthcare workers need to remain responsive to changes in approaches to care when new evidence warrants evaluation of all available treatment interventions or options for care. Options for improving individual patient outcomes may not be the same as options for decreasing adverse events. The availability of a HLA-identical donor remains the crucial concern, because of the proven success of HSCT in treating sickle cell disease. When new evidence related to medical ethics or to treatment efficacy becomes available, the institution may need to change its policies regarding who is eligible for the intervention and which interventions are indicated in which cases. From a public health and population health perspective, healthcare workers, policymakers, and patient advocates also need to consider socioeconomic and social justice issues in care delivery (Nickel & Kamani, 2017). New technologies that facilitate evidnece-based practice will help healthcare institutions and healthcare workers be more responsive to emerging tools and technologies, including pharmacological and genetic interventions, genetic testing, and other types of screening.
Education and Communications Plan
1. Promoting Science Literacy. Educating colleagues and patients on sickle cell disease requires strong media literacy and science literacy. Distilling an abundance of emerging research on sickle cell disease into plain language also requires patience. Information should be translated into as many languages as possible, too, distributed to partner healthcare organizations but also to international governmental and non-governmental institutions dedicated to healthcare and public health.
2. Compiling Fact Sheets. Digital and printed fact sheets should be distributed to public health organizations, as well as to private healthcare institutions. The fact sheet should outline not just the prevalence and basic facts of sickle cell disease, but also the core treatments and technologies being used, and how to access them. Patients need to be aware of their options and how to communicate with their doctors and nurses.
3. Social Justice and Outreach. To acquire funding for research and treatment interventions, healthcare workers and patient advocates need to actively lobby the private sector and also apply for government grants on a regular basis. The private sector can be encouraged to incorporate funding into their social responsibility marketing programs. This will require the preparation of more detailed reports than the fact sheets, along with case studies and spokespeople from the patient population.




References

Hoban, M.D., Cost, G. J., Mendel, M, C., et al (2015). Correction of the sickle cell disease mutation in human hematopoietic stem/progenitor cells. Blood 2015(125): 2597-2604.
Holmes, M.C., Reik, A., Rebar, E.J., et al (2017). A potential therapy for beta-thalassemia (ST-400) and sickle cell disease. Blood 2017(130): 2066.
Lavery, S.A., Islam, R., Hunt, J., et al (2016). The medical and ethical challenges of fertility preservation in teenage girls. Human Reproduction 31(7): 1501-1507.
Nickel, R.S., Hendrickson, J.E. & Haight, A.E. (2014). The ethics of a proposed study of hematopoietic stem cell transplant for children with “less severe” sickle cell disease. Blood 2014(124): 861-866.
Nickel, R.S. & Kamani, N. (2017). The ethics of hematopoietic stem cell transplantation for sickle cell disease. In Meier E., Abraham A., Fasano R. (eds) Sickle Cell Disease and Hematopoietic Stem Cell Transplantation, Springer, pp. 199-219.