Highlights Through the Years

UNESCO–Human Variome Project Workshop Series: Introduction to Genetic and Genomic Counselling

Led by UNESCO and the Human Variome Project with the UNESCO Chair on Human Genetics of Thalassaemia at Universiti Sains Malaysia, this series set out to build practical capability in genetic and genomic counselling among future health and science professionals — with a deliberate focus on the Global South, where formal training in it is hardest to come by.

Twenty-five participants from six countries worked through eight interactive modules delivered one session a week across four months: seven expert lectures on the core principles and practice of counselling, each followed by a quiz, and a case-based role-play simulation that gave participants direct counselling experience. A reflective writing exercise afterwards asked them to examine how they had handled it.

The curriculum ran from an introduction to genetic and genomic counselling through human genetics, pedigree drawing, inheritance and risk calculation, genetic and genomic testing, counselling and communication skills, and the ethical, legal and psychosocial issues that surround the work. Six speakers and three facilitators contributed across the programme.

Alongside the teaching, the series did something the Project values just as highly: it put practitioners from very different healthcare systems and regions in the same room, opening up the kind of cross-cultural learning and professional networks that outlast the course itself.

Global Globin 2020 Challenge Meeting and Conference

The third and largest GG2020 conference convened at UNESCO Headquarters in Paris under the theme Enhancing Partnership in Genomic Capacity and Equitable Healthcare.

Around eighty researchers, scientists, clinicians and specialists took part across plenary lectures, scientific symposia, oral presentations and posters. The framing was deliberate: genomic capacity is unevenly distributed, and closing that gap depends on partnerships rather than technology alone.

GG2020 had been established under the Human Variome Project in 2014 to strengthen the collection, consolidation and sharing of genomic data on haemoglobinopathies, thalassaemia among them. Pooling genetic and clinical information across populations lets researchers and clinicians see how variants, phenotypes and differences between ethnic groups actually relate — something no single cohort can show on its own.

Global Globin 2020 Challenge Conference: Precision Medicine in Thalassaemia

The second GG2020 conference took Precision Medicine in Thalassaemia as its theme and drew experts from Malaysia and around the world for two days of sessions.

The programme ranged widely: gene therapy, molecular diagnostics, translational genomics, prevention and screening, G6PD deficiency, sickle cell disease, and the day-to-day management of thalassaemia. Contributors included Professor Sir John Burn, Professor Dr Antonio Piga, Professor Emeritus Dr Suthat Fucharoen, Dr Carsten Lederer, Dr TP Baskaran and Dr Michael Angastiniotis of the Thalassaemia International Federation, among many others from the international haemoglobinopathy community.

Professor Dr Zilfalil Alwi served as Organising Chair. Discussion concentrated on translational genomics and on the partnerships needed to turn genomic findings into better outcomes — the point at which precision medicine stops being a research agenda and becomes clinical care.

Global Globin 2020 Challenge Conference: Moving Towards Zero Thalassaemia

The inaugural GG2020 conference ran under the theme Moving Towards Zero Thalassaemia, following the annual GG2020 members’ meeting held at the same venue the previous day.

That members’ meeting brought together representatives from nine countries to set out future projects, plan international collaboration and develop the GG2020 Thalassaemia Kit. The conference that followed covered thalassaemia epidemiology, prevention, clinical guidelines, ethics and education, along with emerging ground such as stem cell therapy.

Fifteen speakers travelled from Malaysia, Indonesia, Singapore, Thailand, India, Italy, Cyprus, Egypt and Pakistan, and 42 e-posters gave researchers and health professionals a route to share their own work with the international community. Professor Dr Zilfalil Alwi chaired.