<p>The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective</p>

Abstract

To date, there has been a global lack of data regarding the prevalence of conditions falling under the Inherited Retinal Diseases (IRD) classification, the impact on the individuals and families affected, and the cost burden to economies. The absence of an international patient registry, and equitable access to genetic testing, compounds this matter. The resulting incomplete knowledge of the impact of IRDs hinders the development and commissioning of clinical services, provision of treatments, and planning and implementation of clinical trials. Thus, there is a need for stronger evidence to support value for money to regulatory bodies for treatments approved, and progressing through clinical trials. To ensure a strategic approach to future research and service provision, it is necessary to learn more about the IRD landscape. This review highlights two recent cost-of-illness reports on the socioeconomic impact of 10 IRDs in the Republic of Ireland (ROI) and the United Kingdom (UK), which demonstrate the comprehensive impact of IRDs on individuals affected, their families, friends and society. Total costs attributable to IRDs in the ROI were estimated to be £42.6 million in 2019, comprising economic (£28.8 million) and wellbeing costs (£13.8 million). Wellbeing costs were estimated using the World Health Organization (WHO) burden of disease methodology, a non-financial approach, where pain, suffering and premature mortality are measured in terms of disability-adjusted-lifeyears (DALYs). In the UK, wellbeing costs attributable to IRDs were £196.1 million, and economic costs were £327.2 million amounting to £523.3 million total costs in 2019. Accounting for over one-third of total costs, the wellbeing burden of persons affected by IRDs should be emphasized and factored into reimbursement processes for therapies and care pathways. This targeted review presents the most current and relevant data on IRD prevalence in the ROI and the UK, and the impacts (financial and non-financial) of IRDs in terms of diagnosis, wellbeing, employment, formal and informal care, health system costs, deadweight losses and issues surrounding payers and reimbursement. This review demonstrates IRD patients and their families have common issues including, the need for timely equitable access to genetic testing and counselling, equality in accessing employment, and a revision of the assessment process for reimbursement of therapies currently focused on the cost-of-illness to the healthcare system. This review reveals that IRD patients do not frequently engage the healthcare system and as such suggests a cost-of-illness model from a societal perspective may be a better format.

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

“…2 ) and delivered via a subspecialty service. Thus far, 1482 IRD patients (and unaffected relatives) of an estimated 2600 IRD patients in Ireland (Republic of Ireland and Northern Ireland) [ 16 ] have been clinically assessed/phenotyped (see B in Fig. 2 ).…”

“…DR, 1.7% of global population [ 14 ], age-related macular degeneration, 7.2% of Irish population > 50 years [ 15 ]), while IRDs do not have a standardized approach. Despite IRDs being rare diseases, they accrue an €80 million per annum socioeconomic burden [ 16 ], with patients often seeking out and paying for expertise abroad at their own initiative. Ophthalmologists (and all eye care professionals) are obliged to advocate for the IRD population (3:10,000) by striving for a similar world-class standard of care with efficient use of available resources.…”

“…The second requirement was psychological support (i.e., in adjusting to and coping with diagnosis) and the third was practical physical supports (e.g., financial, education, low vision). Respondents to this survey and a recent Irish study expressed dissatisfaction at the lack of integration between health and social care, which may explain lack of representative engagement between people with IRDs and health services [ 4 , 16 ]. A set of core goals was distilled to best utilise the limited resources available for IRD management in Ireland: Genetically resolve IRD pedigrees, Act on modifiable disease, Offer relevant supports, and Provide access to clinical trials of novel therapeutics when appropriate.…”

Identifying haplotypes in recessive inherited retinal dystrophies using whole‐genome linked‐read sequencing

“…Genetic testing is crucial to resolve causative gene variants for accurate clinical and genetic counseling. 3 Here we report the clinical characteristics and genetic findings of two patients with inherited retinal dystrophies. Both patients were initially identified with potential disease-causing variants using conventional NGS.…”

“…They are caused by over 300 different genes and loci, making individual diseases rare (RetNet, https://sph.uth.edu/RetNet/). Genetic testing is crucial to resolve causative gene variants for accurate clinical and genetic counseling 3 …”