# Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral Genetics

> **NIH NIH RM1** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $150,762

## Abstract

Project Summary
Advances in genetic technologies have made it possible to develop therapies individualized for specific
patients with rare genetic diseases. Consistent with the focus of our CEER on identifying and exploring
emerging issues in the ELSI of neuropsychiatric genetics, this project will explore some of the critical ELSI
issues raised by individualized treatments for rare genetic disorders. These include substantial societal, ethical,
regulatory, and conceptual questions. From a societal perspective, when does the potential benefit to a single
patient warrant the resources involved, including a sustained time investment by an entire research team, the
costs of developing an individualized intervention, and the ongoing expense of administration? In terms of
traditional medical ethics concerns, how can we determine when the possible benefits to the patient exceed
the risks of a treatment never before used in humans? This is likely to be a difficult task when, as will often be
the case, benefit is seen in some degree of symptom improvement, but not cure, and risks are difficult to
anticipate. Even when the physicians involved believe use is warranted, since it will often be parents of a
severely affected child making a decision about whether to proceed, what concerns should we have about their
abilities to make fully informed decisions? In the regulatory context, who should be overseeing individualized
genetic therapies and what standards should they use for review and approval? Can current regulatory and
oversight procedures accommodate such cases, or will new procedures need to be developed? From a
conceptual perspective, is this best understood as clinical research, medical innovation, or treatment? Or some
hybrid of the three? To begin to address these questions, we propose a combined empirical study and ELSI
analysis (with a focus on societal, ethical, regulatory, and conceptual questions). We will use a hypothetical
case example of a genetic disorder with childhood onset and severe neurological symptoms. We will undertake
interviews with patients and parents of children with similar rare genetic disorders, clinical geneticists who
diagnose and treat such conditions, and IRB members who will have come face-to-face with new ethical
challenges as a result of these approaches (7-10 in each group). After being presented with the hypothetical
case, they will be asked to identify the conceptual, ethical, societal, and regulatory issues they perceive, the
solutions they envision, and what additional data would be useful in shaping policy. Interviews will be coded
and analyzed, with their results forming the basis for our mapping of the issues, conceptual analysis, and
proposed research agenda.

## Key facts

- **NIH application ID:** 10131385
- **Project number:** 3RM1HG007257-08S1
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Paul Stuart Appelbaum
- **Activity code:** RM1 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $150,762
- **Award type:** 3
- **Project period:** 2013-09-17 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10131385

## Citation

> US National Institutes of Health, RePORTER application 10131385, Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral Genetics (3RM1HG007257-08S1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10131385. Licensed CC0.

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