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Excerpted From: Vence L. Bonham and Lisa E. Smilan, Somatic Genome Editing in Sickle Cell Disease: Rewriting a More Just Future, 97 North Carolina Law Review 1093 (June 2019) (309 Footnotes) (Full Document)

Vence L BonhamApproximately 1,000 children in Africa are born with SCD every day and more than half will die before they reach five. In 1910, Dr. James Herrick described a blood cell irregularity in his article, “Peculiar Elongated and Sickle-Shaped Red Blood Corpuscles in a Case of Severe Anemia,” in the Archives of Internal Medicine: this “peculiar” phenomenon later came to be known as SCD. The identification of this disease within the Western medical community was an important milestone in the science of human genetics. Today, SCD is used to describe several inherited blood disorders, including sickle cell anemia, HbSC, and HbS -thalassaemia. Throughout the history of SCD--the most common single-gene disease--treatment of this community has been intertwined with race and inequities in health care.

While the pharmacological revolution of the last twenty-five years failed to benefit the SCD community, during the last five years promising new drugs and genetic curative treatments have emerged. While acknowledging the promise and potential of novel genetic therapies to end suffering of those with SCD, this Article considers the historical context of the disease and how that history affects current ethical, legal, and social implications of the research.

The National Academies of Sciences, Engineering, and Medicine 2017 Report on Human Genome Editing identifies fairness as an important principle, requiring 

that like cases be treated alike, and that risks and benefits be equitably distributed (distributive justice). Responsibilities that flow from adherence to this principle include (1) equitable distribution of the burdens and benefits of research and (2) broad and equitable access to the benefits of resulting clinical applications of human genome editing. Fairness, which includes equitable access, must be at the forefront in developing both policies and clinical trials. The commitment of every stakeholder engaged in the research, development, production, and provision of the new technology will be required to address this challenging goal-- essentially, that grand scientific advances in biotechnology must translate into health care for underserved patients. The pharmaceuticals industry, government regulators and policymakers, legislators, bioethicists, health-care professionals, and insurers cannot operate in isolation; each must invite the voices of patients and their advocates to join in collaborative dialogue and policymaking.

This Article describes the discrimination that SCD patients have faced in the past and proposes a fairness-based framework to guide future treatment and research to ensure equitable access to somatic gene editing in the SCD community.

Part I of the Article discusses current advances in gene editing and its potential to cure disease.

Part II provides an overview of SCD and how somatic genome editing may someday cure individuals with the disease.

Part III contemplates the legacy of discrimination endured by the SCD community, which may inform the community's concerns regarding inequitable access to new treatments.

Part IV considers the importance of engaging in conversations with the SCD community about its thoughts, beliefs, hopes, and fears relating to curative genetic therapies and how such engagement may forestall perpetual health inequities.

Part V provides an overview of current legal protections relating to genetic information and its limitations concerning diagnosed genetic diseases.

Part VI considers the idea of equity and gene editing, spotlighting new approaches to ensure inclusion and affordability for the SCD community.

[. . .]

The promise of genome editing to address the burden of SCD is profound. The possibility that it will cause harm and will not equitably benefit those living with SCD in high-income countries, such as the United States, is real. With an eye toward ensuring equitable access, scientists, ethicists, economists, lawyers, and policymakers must develop new approaches to implement this new and expensive treatment in a population recognized to have been underserved.

The stakes are high. The challenge is to foresee obstacles to access and affordability now, as Phase I clinical trials are being conducted so that the SCD community is not left with a solution and no means of using it to solve this life-and-death problem. Currently, in low-income countries with the highest burden of SCD, the potential to benefit from genetic curative therapies and genome editing is unrealistic when those countries do not even have resources to implement newborn screening and preventive care. If the United States and other scientifically advanced countries are able to get the science right, we can and must share our knowledge and resources with low-income countries carrying the highest burdens of the disease.

The National Academies of Sciences 2017 Report identified seven principles that should undergird the oversight systems, research on, and eventual clinical uses of human genome editing:
(1) promoting well-being,
(2) transparency,
(3) due care,
(4) responsible science,
(5) respect for persons,
(6) fairness, and
(7) transnational cooperation.

Each principle is essential to implementation of genome editing for SCD. The first five reflect requirements or aspirations clearly articulated in existing U.S. laws and policies relating to human subjects research. The last two, fairness and transnational cooperation, more easily have been bypassed in the race to develop new treatments for ailments in high-income countries.

The future will be bright for those who carry the burden of SCD as an everyday life experience ... provided that we prioritize the development of strategies to equitably integrate these new curative genetic therapies. With commitment, cooperation, and careful planning, we could forever reduce the burden of this disease.

Vence L. Bonham is Associate Investigator, Social and Behavioral Research Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health.

Lisa E. Smilan. JD, George Washington University Law School. LLM, University of Maryland Francis King Carey School of Law.