Should we be assessing the impact of rare diseases on patients’ siblings?

As well as exploring the impact of diseases on patients, many of Vitaccess’ studies investigate the burden experienced by informal caregivers of individuals with rare diseases, to provide a more holistic picture of their impact.

The National Institute for Health and Care Excellence (NICE) includes guidance on including caregiver outcomes in their health technology evaluation manual¹. However, there is little guidance on whether NICE and other health technology assessment (HTA) bodies consider evidence on sibling burden in their decision making.

During the ISPOR EU 2023 conference, the emotional impact of rare diseases on healthy siblings was discussed. Panelists and attendees at the Rare Disease Special Interest Group meeting discussed whether to generate disutilities based on the financial and emotional impact on siblings of patients with a rare disease and, if so, how.

There is limited research on the impact of being a sibling of an individual with a rare diseases^2,3. Most research focuses on siblings of patients diagnosed with more common diseases, such as pediatric cancer, diabetes, Down syndrome, and autism spectrum disorder². Additionally, the majority of research on the topic is qualitative and does not involve comparison with control participants (i.e., individuals with healthy siblings). In a 2021 study, Haukeland et al. investigated the psychosocial functioning of siblings of children in Norway with rare disorders compared with that of controls. The findings revealed significant differences between the two groups, with siblings of children with rare disorders reporting worse mental health, parent-child communication, child-parent relationships, and social support than controls².

Haukeland et al. highlighted that these results echo research on the psychosocial impact on siblings of individuals with chronic diseases, which implies that these siblings may benefit from interventions for psychological wellbeing^4-7. Many studies call for additional research with more robust methodologies, including longitudinal assessment⁴. To identify suitable interventions and support for siblings of those with a rare disease, further research could investigate the contributing factors (e.g., disease severity, family structure, medical treatments received, symptoms, and impact on sleep)³.

It is yet to be determined whether HTA bodies will consider the potential need for interventions by siblings of those with rare diseases in the wider evidence of the overall impact of a disease. Vitaccess will continue to assess the guidance from HTA bodies and emerging literature on the topic to assess whether there are opportunities to include the sibling experience in future research studies.

By Akosua Ofori

References

1. NICE health technology evaluations: The manual. NICE. October 31, 2023. Accessed February 28, 2024. https://www.nice.org.uk/process/pmg36/chapter/introduction-to-health-technology-evaluation.

2. Haukeland YB, Vatne TM, Mossige S, Fjermestad KW. Psychosocial Functioning in Siblings of Children With Rare Disorders Compared to Controls. Yale Journal of Biology and Medicine. 2021;94(4):537-544. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686778/. Accessed February 28, 2024.

3. Atkins JC, Padgett CR. Living with a rare disease: Psychosocial impacts for parents and family members – a systematic review. Journal of Child and Family Studies. Published online February 1, 2024. doi:10.1007/s10826-024-02790-6

4. Vermaes IPR, van Susante AMJ, van Bakel HJA. Psychological functioning of siblings in families of children with chronic health conditions: A meta-analysis. Journal of Pediatric Psychology. 2011;37(2):166-184. doi:10.1093/jpepsy/jsr081

5. McKenzie Smith M, Pinto Pereira S, Chan L, Rose C, Shafran R. Impact of well-being interventions for siblings of children and young people with a chronic physical or mental health condition: A systematic review and meta-analysis. Clinical Child and Family Psychology Review. 2018;21(2):246-265. doi:10.1007/s10567-018-0253-x

6. Incledon E, Williams L, Hazell T, Heard TR, Flowers A, Hiscock H. A review of factors associated with mental health in siblings of children with chronic illness. Journal of Child Health Care. 2013;19(2):182-194. doi:10.1177/1367493513503584

7. Murphy LK, Murray CB, Compas BE. Topical review: Integrating findings on direct observation of family communication in studies comparing pediatric chronic illness and typically developing samples. Journal of Pediatric Psychology. 2017;42(1):85-94. doi:10.1093/jpepsy/jsw051