Rebecca French’s Research on Niemann-Pick Community Perspectives on Cure vs. Prevention in Rare Diseases
Rebecca French, a fourth-year student at the University of Bath, is conducting research titled “What are the Niemann-Pick Community in England’s perspectives and policy implications of investing in gene therapy cures versus pre-emptive genetic testing for rare diseases?” This ethics-approved study (reference: 13681-17873) explores the economic, ethical, and societal debates surrounding cure versus prevention in rare diseases, with a focus on pre-emptive genetic testing. It aims to highlight how rare diseases are prioritised in policy, politics, and society, while addressing a gap in literature by capturing the views of those directly affected by conditions like Niemann-Pick.
Researcher and Supervisors
- Researcher: Rebecca French (rf633@bath.ac.uk)
- Supervisors/Co-Investigators: Piotr Ozieranski (po239@bath.ac.uk) and Diana Teggi (dt527@bath.ac.uk)
Who Can Participate?
The study invites individuals in England connected to Niemann-Pick UK or those who care for or know someone with ASMD Niemann-Pick (types A, A/B, or B) or Niemann-Pick type C. This includes parents, siblings, extended family, carers, researchers, scientists, or charity organisers. Participants must be aged 18 or over and reside in England.
Participation Details
Participation is entirely voluntary, with no obligation to join. Interested individuals can review the information sheet and contact the researcher with questions before consenting. Withdrawal is possible at any time without explanation.
The study involves:
- A short survey on views and perceptions of genetic testing at individual and societal levels (multiple-choice or open-text questions, with “prefer not to say” options). It does not delve into personal family experiences or specific medical details.
- An optional 1-hour follow-up interview (in-person or online) for deeper discussion, with questions provided in advance and audio recording for accurate transcription (recording optional).
- Post-survey debrief available upon request.
Exclusion criteria: Non-England residents, those under 18, or individuals without a connection to Niemann-Pick through family, work, or charity.
Benefits and Risks
There are no direct benefits, but contributions may reveal community consensus on genetic testing, influencing whether policies align with the experiences of rare disease communities.
Risks are minimal: Survey questions can be skipped if uncomfortable. Interviews can be paused or stopped if upsetting, with referrals to support services. For support, contact Niemann-Pick UK’s Advocacy Lead, Louise Metcalfe (louise@npuk.org or 07423 106 595).
Data Handling and Confidentiality
Only the research team and relevant University staff access provided information, treated as confidential. Data is stored securely on University of Bath servers for up to 10 years, per UK data protection laws. Results may be shared anonymously in presentations or publications. Raw data (audio and questionnaires) will be destroyed in Summer 2026. Participants can request a summary of overall findings post-study.
Review and Withdrawal
The project received a favorable ethics opinion from the University of Bath’s Social Sciences Research Ethics Committee.
Participants can withdraw anytime before or during the study. Data can be removed within two weeks of completion; after that, it may be anonymised or analysed.
Privacy and Concerns
View the University of Bath privacy notice here.
For issues, contact the researcher first. Unresolved concerns can go to supervisors or the Research Governance and Compliance Team (research-ethics@bath.ac.uk).
Next Steps
If interested in the follow-up interview or more details, email Rebecca French at rf633@bath.ac.uk.
Take the survey here
For full details, read/download the following documents: University of Bath Research Survey Information