The first individualized therapy was administered in the United States just 2 years ago, when milasen, a therapeutic adapted from a Food and Drug Administration (FDA)-approved antisense oligonucleotide technology, was developed for a young girl with an extremely rare genetic mutation associated with Batten disease. Since then there has been an explosion of enthusiasm in developing customized treatments for extremely rare genetic conditions. These interventions raise some of the ethics concerns characteristic of novel therapeutics while simultaneously challenging existing legal, regulatory, and ethical understandings. Their individualized aspect blurs to the point of erasing the historically distinct line separating research from treatment, leading regulators and ethics oversight bodies to reevaluate existing policies. As experimental therapeutics, they raise the potential for both compromised informed consent and conflicts of interest, and their considerable expense provokes serious justice concerns. This article examines these challenges, urges multidisciplinary stakeholder engagement to address them in a transparent and practicable manner, and recommends initial policy responses.
Keywords: drug regulation; ethics; health policy; investigational; oligonucleotide; precision medicine; rare diseases; therapies.