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Understanding individualised genetic interventions as research-treatment hybrids
  1. Josephine Johnston1,2,
  2. Kathryn Tabb3,
  3. Danielle Pacia1,
  4. Sandra Soo-Jin Lee4,
  5. Wendy K Chung5,
  6. Paul S Appelbaum6
  1. 1Hastings Center, Garrison, New York, USA
  2. 2Bioethics Centre, University of Otago, Dunedin, New Zealand
  3. 3Department of Philosophy, Bard College, Annandale-on-Hudson, New York, USA
  4. 4Department of Medical Humanities and Ethics, Columbia University, New York, New York, USA
  5. 5Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA
  6. 6Department of Psychiatry, Columbia University, New York, New York, USA
  1. Correspondence to Ms Josephine Johnston, Hastings Center, Garrison, NY 10524, USA; johnstonj{at}thehastingscenter.org

Abstract

Until recently, medicine has had little to offer most of the millions of patients suffering from rare and ultrarare genetic conditions. But the development in 2019 of Milasen, the first genetic intervention developed for and administered to a single patient suffering from an ultrarare genetic disorder, has offered hope to patients and families. In addition, Milasen raised a series of conceptual and ethical questions about how individualised genetic interventions should be developed, assessed for safety and efficacy and financially supported. The answers to these questions depend in large part on whether individualised therapies are understood as human subjects research or clinical innovation, different domains of biomedicine that are regulated by different modes of oversight, funding and professional norms. In this article, with development and administration of the drug Milasen as our case study, we argue that at least some individualised genetic therapies are not, as some have argued, either research or treatment. Instead, they are research-treatment hybrids, a category that has both epistemological and pragmatic repercussions for funding, ethics oversight and regulation.

  • Genetic Therapy
  • Child
  • Ethics- Research
  • Ethics- Medical

Data availability statement

No data are available. This manuscript does not present new data. Any data or research referred to in the manuscript is published as cited via a reference.

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Data availability statement

No data are available. This manuscript does not present new data. Any data or research referred to in the manuscript is published as cited via a reference.

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Footnotes

  • X @bioethicsjosie

  • Contributors JJ, KT and DP conceptualised and drafted the manuscript as part of a team project involving SS-JL, WKC and PSA and for which PSA is the principal investigator. The article draws on empirical research conducted by this same team. Drafts of the article were edited by all authors multiple times. JJ can act as guarantor regarding the veracity of this statement.

  • Funding This study was funded by the National Human Genome Research Institute (grant number: 3RM1HG007257-08S1).

  • Competing interests WKC is on the Board of Directors for Prime Medicine and the Board of Directors for Rallybio.

  • Provenance and peer review Not commissioned; externally peer reviewed.