Towards Achieving Equity and Innovation in Newborn Screening across Europe.

Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programmes varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced. To help improve the equity of provision of NBS and ensure that all children can be offered high-quality screening regardless of race, nationality and socio-economic status, a technical meeting, endorsed by the Slovenian Presidency of the Council of the European Union, was held in October 2021. In this article, we present experiences from individual EU countries, stakeholder initiatives and the meeting's final conclusions, which can help countries attempting to establish new NBS programmes or expand existing provision.

Shaping national plans and strategies for rare diseases in Europe: past, present, and future.

Addressing the many challenges posed by rare diseases to patients, families, and society at large demands a specific national (as well as transnational) focus. Historically, the practice of elaborating and adopting national plans and strategies for rare diseases, following a request from the European Commission in 2009, has been an essential means of ensuring this focus, with 25 European Member States having adopted a plan or strategy at some stage. However, from the vantage point of late 2020, there are signs that momentum and commitment to the development, implementation, and renewal of national plans is waning, in some cases. In this article, we examine the status quo and explore the trend for national plans and strategies to expire without clear commitments or timelines for replacement. We also examine the factors and institutions which supported the initial drive towards the adoption of national plans and strategies in Europe and consider the very different climate in which the next generation of national policies may-or may not-be shaped.

Patient empowerment of people living with rare diseases. Its contribution to sustainable and resilient healthcare systems.

The notion of empowerment is linked to patients' everyday life and is the base allowing for the patient engagement through which individuals and communities are able to express their needs, are involved in decision-making, take action to meet those needs. In the field of rare diseases, empowerment strategies have greater value due to low prevalence, lack of expertise, poor quality of life. Avenues to patient empowerment are: health literacy and capacity-building; shared decision-making; support to self-management. Patient empowerment is recognised as key enabler in creating sustainability as addressing challenges faced by modern healthcare systems in terms of effectiveness, access and resilience. It is recommended to develop a comprehensive EU roadmap on patient empowerment including specific recommendations, taking stock of good practices. This holistic approach should lead to a society where all actors are fulfilled human beings and unmet needs are addressed in compliance with fundamental human rights.