The future of thalassemia care

With Androulla Eleftheriou, executive director of the Thalassemia International Federation

The impact of genomics on global healthcare is one to watch. Genomic testing is improving the diagnosis and treatment of diseases. Next-generation sequencing technologies enable noninvasive prenatal testing (NIPT) to screen for diseases early, including thalassemia.

We spoke with Androulla Eleftheriou, executive director of the Thalassaemia International Federation on the future of thalassemia diagnosis and treatment.

What inspired you to work in the field of thalassemia, and be involved with the Thalassemia International Federation (TIF)?

The many and multiple unmet needs for more than 80% of the global thalassemia patient population and the transparency, passion, and patient-centered, reliable ways that TIF utilizes to support its patients, their families and healthcare professionals involved in safeguarding their rights to equal access to quality and decent health, social and other care, were the true driving tools to get me deeply involved.

Moreover, thalassaemia in Cyprus has long been considered a “national” disease, with one of the highest carrier rates in the world. This was an incentive for most scientists in this country to get more involved, particularly as the headquarters of the global Federation (TIF) was and still is constitutionally established in Cyprus.

How has the diagnosis and care of thalassemia evolved and what advancements have been made? 

Accurate diagnosis and appropriate management evolved over the last five decades, since the early 1970s and in the last 15 – 20 years in particular, where optimal care was first described in TIF’s International Guidelines in 1999 (since then updated regularly to date) covering all aspects of management of this complex, chronic, multi-organ related disorder of the blood.

This was indeed a very successful scientific journey with a number of important milestones and strengthened with, or on occasion even ignited by, the continued empowerment and contribution from the patient community. The scientific advances led to methods that contribute to the accurate and prompt diagnosis and appropriate treatment and care of this disorder.

Where such advances were integrated into nationally funded and coordinated programmes within national healthcare systems, the results have been very impressive: reduction in morbidity and mortality rates of the patients and a significant increase in their survival, quality of life and social integration.

Science has now reached such heights that not only have patients’ lifespans been extended and their quality of lives improved, but holistic care and cure can actually be offered to them as well.

How do you see emerging technologies such as gene therapy and non-invasive prenatal testing (NIPT) shaping thalassemia diagnosis and treatment in the next decade? 

Gene-based therapies have been long waited for by the patients, their families and their treating healthcare professionals. Patients are looking forward to having safe and effective, with long durability, therapies to take them off the hook of lifelong attachments to hospitals and transfusion dependency. However, there is an urgent need to make these therapies affordable and less complex in their application to patients.

There is an urgent need for health technology assessments to integrate more appropriately the patients’ perspective and the significant component related to quality of life. Moreover, competent authorities need to be educated about the transformative changes these therapies can bring about, first to the patients and then to the sustainability and resilience of health and social systems themselves. 

For certain gene therapies, there may be a need to “accept some level of uncertainty” at the time of approval around questions like side-effects over long-term and safety during administration, and post-marketing tools such as safety monitoring and the possible use of extra clinical trials may be the future key.

Non-invasive prenatal testing (NIPT) will have a huge added-value to early and accurate diagnosis, providing the choice to “at risk” couples on how to continue with their reproductive and family lives, particularly as this is related to totally non-invasive methodologies associated with less physical and emotional pain but also reduced costs and human resources needs.

What do you think are the unmet global needs for thalassemia patients and carriers? How do challenges in delivering on those needs compare in developing countries and more developed ones?

In developing economies, unmet needs are many and complex – from basic transfusion therapies, safety, quality and adequacy of blood to the existence of multidisciplinary care. Unmet needs are translated or reflected in the low average age (25 years or younger) of patients in the majority of these countries. Their governments have other political and/or health priorities (including communicable diseases) and are not primarily focused on chronic, hereditary genetic diseases despite the exceedingly high burden borne at the national and international level by these disorders on medical, public health, social and economic components.

In the developed parts of the world, on the other hand, unmet needs are more confined but, in many of these countries disease specific strategies need to be well integrated into national prevention programmes and must go a step further from basic medical care to well-organised multidisciplinary care and the establishment of reference centres. The existence of a robust healthcare infrastructure does not ensure quality care without the above prerequisites. A major and common weakness across all countries is the lack of national registries and patient health records.

What are the current priorities for TIF and how is the organisation working or partnering to tackle the disease at a global level?

TIF’s ultimate goal is for every patient to have access to quality and appropriate care at any time needed, irrespective of where they live, and to benefit from new scientific and research advances through productive partnerships with official international and regional bodies such as the WHO and others (e.g. European Council, Council of Europe, UN-ECOSOC), professional medical/scientific bodies/regulatory authorities (e.g. ERNs, ISBT, EHA, ASH, EASL, EBA, EMA, FDA, CDC, ECDC etc.*) and multi-stakeholder initiatives (e.g. TRANSFORM, Blood and Beyond, Patients’ Rights).

Through our work, we continue to pursue the integration of fully funded national disease-specific programmes that encompass educational, awareness raising and patient empowerment components and that provide timely, appropriate and quality care to all our patients. 

*European Reference Networks (ERNs), International Society of Blood Transfusion (ISBT), European Health Association (EHA), American Society of Hematology (ASH), European Association for the Study of the Liver (EASL), European Blood Alliance (EBA), European Medicines Agency (EMA), U.S. Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDC), European Centre for Disease Prevention and Control (ECDC).

Hear more from Rebecca Middleton at the Cell and Gene Therapy Summit by the Economist Impact on 24-25 April 2023 in Brussels.

For more global data and analysis on the state of clinical NGS, explore our IVD Gateway solution.