Genetics services continue to evolve with improved knowledge and advancements in technology and genetic testing. To keep up with trends and improvements, the national Department of Health set out to review the Policy Guidelines for the Management and Prevention of Genetic Disorders, Birth Defects and Disabilities (2001). The current status of maternal, neonatal, child and reproductive health in South Africa motivated for a paradigm shift in the provision of genetic services due to their significant impact on outcomes. To optimise this impact, genetic services must be integrated into maternal, neonatal, child and reproductive health and other public health programmes across the continuum and levels of care, ranging from community to tertiary and quaternary services.
The primary focus of the guidelines are to promote the prevention, screening, diagnosis (clinical and laboratory) and management of congenital disorders, including genetic counselling and palliative care services where necessary. The secondary focus is the reduction of morbidity and mortality due to congenital disorders and improving the quality of life of affected individuals. Patient-centred care is a core principle of service provision in these guidelines, ensuring that care is accessible, coordinated and integrated, respects patients’ values, preferences and expressed needs, offers emotional support, involves family and friends and offers continuity and transition. Care is further expanded to include the patient’s experience of care including informed decision making, consent and confidentiality.