Edition of 17 July 2026

A recent narrative review published in Health Policy and Technology explores how early health economic modelling (EHEM) can be used to assess economic aspects of innovative health technologies early on in development. By integrating evidence such as early technical data and outcomes from small clinical studies, EHEM allows developers to clarify investment risks and strengthen communication with payers, regulators, and other stakeholders. The authors found that implementing EHEM as early as possible in the development process can allow developers to ensure that innovative health technologies have well-aligned value propositions, and are best equipped to achieve favourable HTA outcomes.

A new study has been published in European Journal of Human Genetics, exploring how patients decide whether or not rare disease and cancer patients decide to accept genomic testing.

In the framework of an evaluation study of patient experience, researchers from Melbourne Genomics Health Alliance evaluated the experiences of 1,690 Australian patients offered genomic testing during clinical care for a rare disease or cancer. Of the patients included in the study, 90% accepted genomic testing. The most common reasons given for declining testing were a lack of interest in genetic/genomic testing, and being overwhelmed by current concerns. Participants who declined also raised concerns regarding data storage and reidentification, as well as financial impacts.

The study highlighted equity concerns with regards to the delivery of genetic counselling services. In particular, patients who spoke English as an additional language were less likely to have received sufficient information at pre-test counselling, and were less likely to correctly answer questions about potential genomic test results. Speaking English as an additional language was also found to be a predictor of moderate-to-high decision regret.

Despite equity challenges, the authors found that genomic test results provide more value than harm to patients. However, they highlight the need to address such challenges in order to ensure that all patients can benefit from the potential value of genomic testing. These findings serve as an evidence base which can be used to inform future genomic health technology assessments.

Recently, an article was published in Journal of Rare Diseases exploring the mental health challenges and psychosocial impact experienced by children and adolescents living with a rare disease. Through a systematic review of the literature, researchers found that children and adolescents with RD face significant emotional distress, including anxiety, depression, and a diminished quality of life. These are further exacerbated by factors such as physical limitations, frequent hospitalisations, and social exclusion. Their primary caregivers also experience significant emotional and financial burdens as a result of the challenges associated with their dependents’ conditions.

This review found that, despite the clear need for support and the various coping mechanisms adopted by families, there are systemic gaps in psychosocial support and access to interdisciplinary care. These findings highlight the need for integrated, family-centred care models that address the multifaceted challenges of living with a RD.

Findings from the initial implementation assessment of Poland’s first national non-commercial clinical trial (NCT) programme have been published in Health Policy and Technology. In this study, researchers used publicly-available data from the Medical Research Agency (MRA) trial search engine, alongside official reports, to perform a retrospective cohort analysis of all NCTs funded under the programme’s first call.

In 2019, Poland introduced a national funding programme for NCTs designed to answer clinically important research questions which are not driven by industry priorities. Under the programme’s first call for projects, a total of 33 trials were funded. As of September 2025, recruitment had been completed in 11 trials, all of which were still in the follow-up or final analysis stages; no trial had been fully completed. The trials varied widely in terms of recruitment achievement, with some having met or exceeded their target, while others had enrolled fewer than 30% of the planned participants.

Overall, the study found that the MRA’s role as a funding agency needs to be redefined as an active operator, providing centralized operational support. The authors also highlight the need for evaluation criteria to be adjusted to emphasise operational feasibility, in order to more effectively allocate public funds. Furthermore, development of NCTs will only be possible through the establishment of sustainable, long-term public funding to enhance institutional capacity, professionalise research sites, and support the planning of large-scale trials which have a systemic impact.

A recent study published in the Journal of Community Genetics describes the process of developing a re-consent survey for genomic data sharing aimed at adolescents.

In Japan, adolescents who were registered in genomic research projects under proxy consent are required to re-consent to the use of any newly collected data when they reach 16. However, public perspectives on re-consent and data sharing are not well understood. To ensure the appropriateness of the questionnaire and information sheet provided to adolescents in the context of this re-consent, researchers conducted four stages of public and patient involvement (PPI) to inform the revision of the documents. Overall, the study found that PPI enhanced the clarity, cultural relevance, and acceptability of re-consent materials for paediatric genomic data sharing.

New research has been published in the Orphanet Journal of Rare Diseases which uses the epidemiological data contained in Orphanet to estimate the point prevalence and burden of rare diseases in South Africa.

The study included a total of 3,728 rare diseases, for which the estimated mean point prevalence was found to be approximately 5%. This corresponds to a total of approximately 3 million people living with a rare disease in South Africa. 98% of this patient burden is attributed to only 11% of the conditions included in the study. Researchers found that, furthermore, approximately 1.33 million patients are estimated to experience moderate to severe functional disabilities related to a rare disease.