Subscribe Now

By entering these details you are signing up to receive our newsletter.

Survey launched for UK-based rare disease patient advocacy groups on gene therapy decision aids

A new survey has been launched to better understand how rare disease patient advocacy groups (PAGs) in the UK account for their members’ socioeconomic position (SEP) when developing patient education resources and decision aids, specifically for gene therapy.

The survey is part of a dissertation, in the framework of a service improvement research project, being undertaken on the Health Policy Masters programme atImperial College London,with endorsement fromThe Haemophilia Society.

Inclusive access and use of decision aids for gene therapy

TheNational Institute for Health and Care Excellence (NICE)in the UK defines shared decision making as ‘a collaborative process that involves a person and their healthcare professional working together to reach a joint decision about care’1. This approach recognises the right of individuals to be involved in making choices about their treatment, as underpinned by theNational Health Service (NHS)Constitution for England2. NICE promotes the use of patient decision aids that are quality-assured and linked to the best available data in order for individuals to discuss the risks, benefits and consequences of each treatment option¹.

With gene therapy becoming an ever-increasing clinical reality to treat those affected by rare diseases, including haemophilia3, its complexity necessitates individuals and their carers to actively participate in a process of SDM with their healthcare team about the substantive risks and benefits (see blog post‘Improving informed consent for gene therapy’30 September, 2021). Some empirical evidence suggests that patients’ SEP has practical implications for SDM, including influencing patient-physician communicative behaviours and interaction quality4,5.

Rare disease PAGs play a crucial role in fostering empowerment and knowledge sharing at both the individual and population level to reduce health disparities through the production of reliable, evidence-based educational materials6. The survey – and by extension the research project – seeks to evaluate and determine best practice approaches of accounting for members’ SEP by rare disease PAGs when developing resources and decision aids for gene therapy in the UK.

The results will serve to inform future practices of The Haemophilia Society, whilst having broader applicability to the rare disease community.

Quick clarity on definitions

In the survey, SEP refers to the socially derived economic factors that influence the position individuals hold within society. It is often used interchangeably with ‘social class’ or ‘socioeconomic status’. However, health inequality experts, such as Professor Sir Michael Marmot7, argue that SEP is more neutral-sounding and does not carry the same political baggage as these other terms.

Gene therapy is used as an umbrella term to describe treatment strategies that strive to directly address the genetic drivers of a disease, either by replacing a missing gene function (e.g., gene transfer) or the direct repair of disease-causing gene defects (e.g., gene editing)³.

Reducing barriers to evidence-informed patient choice

Laurence Woollard, Director of On The Pulse and the sole researcher, commented on the importance of undertaking the project:

“Given the irreversible nature of current gene therapies, rare disease PAGs have an ethical and social responsibility to ensure fair and inclusive availability of easily comprehensible patient resources and decision aids that promote informed choice and minimise decisional regret. Yet, the existence of a social gradient effect on patient-physician communication, influenced by an individual’s SEP, is a significant barrier to healthcare utilisation. This is an integral aspect relevant to the wider health equity debate surrounding access to these potentially transformative treatments.

Through this survey and research, I hope to look at the type of information that rare disease PAGs in the UK collect about their members’ SEP and the extent to which this is considered if or when producing an educational resource and decision aid on gene therapy. The key findings and recommendations will be delivered to The Haemophilia Society to compliment their service improvement strategy, together with facilitating knowledge sharing through formal channels so that other rare disease PAGs can ensure the learning and communication needs of their members from across the social spectrum are better met.

I wish to thank The Haemophilia Society for endorsing the research project and in particular Debra Morgan, Head of Policy and Campaigns, for supporting its development and the launch of the survey.”

How to take part in the survey

The survey is open to representatives of rare disease PAGs in the UK (one representative per PAG) with responsibility for or involvement in patient education resources and decision aids. Specifically, these PAGs are those whose members have either a gene therapy approved for use on the NHS or a gene therapy in human clinical trials, whether in the UK or elsewhere.

The survey is online and will take approximately five minutes to complete. You can access the surveyhere. Deadline for responses is 5pm on Friday 3rd May 2024.

More information

If you would like more information about the survey and research project, please view or download the participant information formhere.

For any questions about taking part, please contact Laurence directly via his university email account

For all work-related enquiries, please

  1. National Institute for Health and Care Excellence. Share decision making [NG197]. 2021. [Accessed 18th April 2024].
  2. Department of Health and Social Care. The NHS Constitution for England. 2023. [Accessed 18th April 2024].
  3. Schambach A, Buchholz CJ, Torres-Ruiz R, Cichutek K, Morgan M, Trapani I, et al. A new age of precision gene therapy. Lancet 2023;403(10426):568-582.
  4. Verlinde E, De Laender N, De Maesschalck S, et al. The social gradient in doctor-patient communication. Int J Equity Health 2012;11(12):1-14.
  5. Job C, Adenipekun B, Cleves A, et al. Health professional’s implicit bias of adult patients with low socioeconomic status (SES) and its effects on clinical decision-making: a scoping review protocol. BMJ Open 2022;12(12):e059837.
  6. Patterson AM, O’Boyle M, VanNoy GE, et al. Emerging roles and opportunities for rare disease patient advocacy groups. Ther Adv Rare Dis 2023;4:1-18.
  7. Marmot M. Social justice, epidemiology and health inequalities. Eur J Epidemiol 2017;32:537-546.

Skip to content