Public Health Service to build national genomic database as testing ramps up to 3,500

Malta’s public health service is conducting market research for a national genomic record system that will track and analyze the family pedigrees of hospitalized patients.

The cloud-hosted system will replace the existing record keeping system, allowing the NHS to provide geneticists, biomedical scientists and healthcare professionals with a powerful setup to track data on genetic diseases, among other things.

The number of genetic testing requests has increased dramatically, reaching approximately 3,500 per year, and this number is expected to continue to grow as genomic technology and genomic knowledge advances.

Highly specialized, multidisciplinary environments require effective communication between the various medical professionals involved, but currently this communication remains largely paper-based.

The NHS wants to build a cloud-based system that can streamline family history data, merge different families if a link is found, and automatically generate disease recommendations based on phenotypic information and through cancer risk mapping algorithms.

Patient questionnaires will be administered remotely via a GDPR-compliant mobile app or patient web portal, and answers to the questionnaires will be fed into the pedigree generation algorithm.

Enabling two-way sharing by integrating patient and family medical history and genetic data with existing hospital information systems is critical to providing high-quality services.

Mater Dei Hospital is a major public hospital and is the National Coordinating Centre for 24 existing European Reference Networks for Rare Diseases. Laboratory services provide testing for a wide range of genetic diseases such as thalassemias and haemoglobinopathies, cystic fibrosis, gangliosidosis and other metabolic disorders, hereditary cancer syndromes and hereditary cardiovascular diseases.

The World Health Organization (WHO) consistently ranks Malta’s healthcare services as one of the top in the world, and the island’s different government departments regard state healthcare as a key social pillar, which is closely guarded and free to patients when delivered.