Edition of 25 May 2023

International News

Australia: RVA releases 2023 status report on National Action Plan implementation

As the lead for the collaborative implementation of Australia’s National Strategic Action Plan for Rare Diseases, Rare Voices Australia has released a report which gives insight into current activities which align with the Action Plan’s Pillars and Priorities. Launched in 2020, the Action Plan represents the first nationally coordinated effort to address rare diseases in Australia.

Between September and October 2022, and again in February 2023, RVA conducted an activity scan which invited the rare disease sector to share the projects, initiatives and achievements they had undertaken since the Plan’s launch. They captured hundreds of different activities from inputs to impacts, and mapped them to the 8 key themes in the Action Plan. As the first measure of its progress, these findings provide a baseline for future monitoring of the Plan’s implementation. They also enable the identification of areas of strength and weakness within Australia’s current rare disease strategy.

Despite the promising number of activities found during the activity scan, there is still a need for ongoing oversight of the Plan’s implementation. Furthermore, the Action Plan should be reviewed regularly to ensure it continues to support a responsive, dynamic, transformative and targeted approach to rare diseases. In particular, the status report identifies a number of priorities that should be kept at the centre of the Plan’s implementation moving forward. These include ensuring activities address priorities across more than one Pillar; translating input, activities and outputs into outcome and impact; and ensuring cross-system collaboration and partnerships, among others.

Egypt: Current status and opportunities in rare diseases

A new article published in the Journal of Rare Diseases provides a review of the current state of rare diseases in Egypt, including recent achievements and efforts within the field.

With a level of consanguinity higher than the worldwide average, Egyptians are at an increased risk for developing rare diseases. As such, there is a significant amount of public awareness for rare diseases in the country, as evidenced by past widespread celebrations of Rare Disease Day.

However, Egypt on the whole does not currently have the capacity necessary to meet the needs of their rare disease population. There is no national patient registry, which hinders monitoring activities; additionally, there are significant barriers related to physician training, molecular diagnosis, standard treatment protocols, and drug availability.

In an attempt to overcome these barriers, efforts have been made in recent years by the Ministry of Health and Population (MoHP) to better support rare disease research and care. In 2021, enhancements to neonatal screening and other initiatives helped improve early diagnosis of rare diseases. Additionally, a multi-criteria decision analysis tool was recently developed to aid in the reimbursement of orphan drugs, improving their availability nation-wide. There have also been recent efforts to increase clinical research activities with Egyptian participants, which is important given the country’s specific genetic profile.

Despite these efforts, there is still work that needs to be done to support Egypt’s rare disease community. In particular, there is a need to improve molecular diagnostic services and strengthen genomics overall. One potential avenue for accomplishing this is through devoting more resources to the Egyptian Genome Project, which aims to link genotypic and phenotypic data to create a diagnostic target panel tailored to the Egyptian population.

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New Zealand: RDNZ report finds a lack of data on rare diseases

On 10 May 2023, Rare Disorders New Zealand (RDNZ) published a report titled “Rare Disorders Insights Report: Pathways towards better health outcomes.” The report was commissioned to explore the likely prevalence of rare diseases in New Zealand, given the available data on both diagnosed and undiagnosed incidences.

Ultimately, the report was unable to reach such an estimate. Instead, it was found that it is impossible to accurately estimate the national prevalence, due to a lack of available data on rare diseases.

These findings reflect the importance of national registries for rare diseases, which New Zealand does not currently have. The current disease classification system does not include most rare diseases, and as such it is extremely difficult to perform rare disease research. This also leads to a significant economic burden of disease, as when left untreated, rare disease patients are extremely costly for health systems.

James McGoram, Chair of RDNZ, expressed the need for a system which better captures data on rare disease patients: “We have repeatedly asked for rare disorder data to be captured…having data is the first step to creating meaningful change for the rare community, and will ultimately lead to the health system saving millions.”

One particular barrier to data collection discussed in the report is the reliance on the ICD-10 disease coding system, which does not have specific codes for the vast majority of rare diseases. The Orphanet ORPHAcodes serve as a potential solution to this problem, by offering a comprehensive classification system for rare disorders. The report discusses in particular the recent efforts to include ORPHAcodes in Australia's data collection activities, as an example of how policy can improve rare disease data collection.

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European News

Cyprus: Lessons learned from the RARE-e-CONNECT project for collective intelligence tools in rare diseases

A recent article published in the Orphanet Journal of Rare Diseases describes the development and implementation of a collective intelligence network for rare diseases in Cyprus. The authors identify the parameters that matter for different stakeholders, and discuss opportunities for how telehealth services can be used to more effectively provide rare disease care.

Collective intelligence (CI) refers to the expertise that is generated through knowledge-sharing. In the case of rare diseases, the rise of telehealth services has enabled the creation of collaborative networks which facilitate the development of such intelligence by connecting healthcare professionals across disciplines and regions. However, there is a need for more formalised tools which can help centralise geographically scattered expertise.

The RARE-e-CONNECT network project was co-financed by the European Regional Development Fund and the Republic of Cyprus from 2019-2022 under a 3-year grant, and sought to drive CI by creating electronic collaborative spaces for both national and international partnerships in Cyprus’ rare disease care. The RARE-e-CONNECT platform is an online space which contains patient and healthcare professional communities organised by disease group. For patients, the forums provide a space to share personal stories and acquired expertise; for professionals, there are opportunities for collaboration on topics such as complex case management.

In this study, researchers employed a mixed-methods approach to identify the needs, experiences, and attitudes of platform users. This included healthcare professionals, including ERN members; patient representatives; and competent bodies in Cyprus, such as the Ministry of Health. While several challenges for implementation were identified, the findings confirmed that RARE-e-CONNECT was largely effective at generating CI.

Overall, this article demonstrates the potential of networks such as RARE-e-CONNECT to improve rare disease care and the overall patient experience when organised within a socioculturally relevant, comprehensive framework. In order to improve the acceptability of this and similar tools, it is vital to provide adequate training and technical assistance; take advantage of automatizations and artificial intelligence mechanisms when available; and develop national and EU-level policy which supports the use of CI technologies.

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Orphan Drugs

Quality of Care

A new structured pathway for transitioning from paediatric to adult care

A new study published in the Orphanet Journal of Rare Diseases evaluates a structured, patient-focused pathway for managing the transition from paediatric to adult care services in rare diseases.

The majority of rare diseases are chronic with a paediatric onset, meaning they begin in childhood and then continue to affect individuals for the rest of their life. As such, many rare disease patients undergo transition, whereby they switch from paediatric to adult healthcare services. This transition is challenging for both patients and their care teams, as paediatric teams struggle to deliver adolescent-appropriate information and structures, and patients must learn to navigate the role and responsibilities of being an adult patient.

To help ease this transition, a German multi-centre, structured transition pathway (TRANSLATE NAMSE) was developed for rare diseases. Funded by the innovation fund of the German Federal Joint Committee and launched in 2017, the pathway aims to facilitate a quality-assured transfer of information from the paediatric treatment team to the adolescent patient, as well as to the adult care team. Through activities such as disease-specific training and counselling services, patients are given the tools they need to navigate care as an adult.

The results of this evaluation found that TRANSLATE NAMSE was effective at improving health literacy among adolescents with rare diseases, and that it helped facilitate patient empowerment through individualised training and counselling. Overall, this pathway helped support adolescent patients during transition, and provides a framework which can easily be adapted for use in any rare disease.

Ethical, Legal and Social

Ultra-rapid genomic sequencing in paediatric critical care: Opportunities and ethical challenges

An article has been published in Children exploring health professionals’ perspectives on the ethical challenges associated with the use of ultra-rapid genomic sequencing (urGS) in neonatal and paediatric intensive care (NICU/PICU) settings.

urGS refers to whole exome or whole genome sequencing which is completed in less than 5 days. It was developed specifically for use in NICU/PICU, to support rapid diagnosis of critically ill patients with underlying genetic conditions. Many such conditions are rare, and a urGS diagnosis can enable access to life-saving treatment, avoid more invasive testing, and provide informed reproductive options for families. However, ethical concerns have been raised, such as the implications for parent-child bonding and exacerbating existing moral dilemmas.

Researchers conducted focus groups to better understand the experiences of healthcare professionals using urGS in NICU/PICU settings, and the ways in which it impacts their clinical decision making. Participants were sampled from the Australian Genomics Acute Care Genomics program, which is evaluating the use of urGS in diagnosis of critically ill children with a rare disease.

The focus group participants reported challenges associated with setting realistic expectations for urGS outcomes among families, which could potentially be mitigated through modified pre-test counselling services. They also discussed concerns about the timing of the test, and moral dilemmas arising from uncertain prognoses and the misalignment of treatment goals between clinicians and families. One opportunity identified by the authors was to provide more specialised training to the genomics workforce, to better support urGS-associated decision-making.

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International News

European News

Orphan Drugs

Quality of Care

Study Design

Bioinformatics and Biotechnology

Epidemiology

Summary of the edition of 25 May 2023

Editorial

Political news

Scientific news

And also...

International News

Australia: RVA releases 2023 status report on National Action Plan implementation

Egypt: Current status and opportunities in rare diseases

New Zealand: RDNZ report finds a lack of data on rare diseases

IRDiRC nomination call: Diagnostics scientific committee

European News

European mental health week: What significance for rare diseases?

EMA publishes draft guidance on evidence from single-arm clinical trials

Cyprus: Lessons learned from the RARE-e-CONNECT project for collective intelligence tools in rare diseases

Orphan Drugs

Challenges and opportunities for generic orphan drugs

Quality of Care

A new structured pathway for transitioning from paediatric to adult care

Ethical, Legal and Social

Ultra-rapid genomic sequencing in paediatric critical care: Opportunities and ethical challenges

Study Design

Protocol for evaluating the effectiveness of patient-centric care models in low and middle-income countries

Bioinformatics and Biotechnology

Using artificial intelligence to identify rare disease patients: An approach using retrospective EHR

PheLR: A new approach to phenotype-driven diagnostic support tools

Visualising biomarker interactions to support inherited metabolic disorder diagnostics

Epidemiology

Estimating rare disease incidence using internet search data

Summary of the edition of 25 May 2023

Editorial

Political news

Scientific news

And also...