Public health service to create national genomic databank as tests grow to 3,500

Malta’s public health service is carrying out market research for a national genomic record system that will track and analyse the family pedigrees of resident patients.

The cloud-hosted system will replace current records systems to allow the national health service to have a robust set-up for geneticists, biomedical scientists and healthcare professionals to track data on inherited diseases, amongst other needs.

Genetic testing has seen an exponential surge in requests to around 3,500 a year, which is expected to keep growing with the advancement of genomic technologies and genomic literacy.

The highly specialised, multidisciplinary environment requires efficient communication between the various healthcare professionals involved, but currently it is still largely paper-based.

The NHS wants a cloud-based system that can streamline family history data, with subsequent merges of different families if these are found to be related and generating automatic disease suggestion based on phenotyping information as well as through algorithms mapping cancer risk.

Patient questionnaires will be administered remotely via GDPR-compliant mobile app or a patient web portal, with answers of the questionnaire feeding into the pedigree-generating algorithm.

The two-way sharing of patient and family history and genetic data will be essential for the provision of a high-quality service, by integrating this data with existing hospital information systems.

Mater Dei Hospital, the main public hospital, is the national coordination hub with the 24 existing European Reference Networks for rare diseases. Lab services provided testing for a vast repertoire of hereditary diseases, such as thalassaemias and haemoglobinopathies, cystic fibrosis, gangliosidosis and other metabolic disorders, hereditary cancer syndromes and hereditary cardiovascular conditions.

The World Health Organization (WHO) consistently ranks Malta’s health care service amongst the top nations worldwide, and the island’s different administrations have made national healthcare a cardinal social pillar that is jealously guarded, at no charge to the patient at the point of delivery.