Inclusion of medical genetics in primary health care: report of a pilot project in Brazil

Over the past few decades, several advances have been made in our knowledge of the genetic basis of diseases, prompting particular attention to the prevention and control of this determinant and to the adequate management of those affected or at risk of developing genetic conditions. The causes of genetic disease are manifold, and a variety of approaches are thus required for their prevention and to ensure better care of patients and families. In 2000, the World Health Organization (WHO) proposed that interventions for prevention and control of genetic disorders and congenital malformations should be added to the primary health care (PHC) framework (WHO 2000). The main characteristic of PHC is its status as the first contact to the health system, providing comprehensive, continuous care over time and coordinating the care received by individuals and families at the various points of care throughout the health system. Other defining characteristics of PHC include its family- and community-oriented nature and cultural competence (Starfield 1992). At the interface between genetics and PHC is the field of community genetics. In 1998, Leo ten Kate defined community genetics as “bringing genetic services to the community as a whole.” (ten Kate 1998) The author later expanded this definition, describing community genetics as “the art and science of the responsible and realistic application of health and disease-related genetics and genomics knowledge and technologies in human populations and communities to the benefit of individuals therein. Community genetics is multi-, inter- and transdisciplinary and aims to maximize benefits while minimizing the risk of harm, respecting the autonomy of individuals and ensuring equity” (ten Kate et al. 2010). Within this context, several efforts have been made in the direction of integrating basic knowledge of genetics into the framework of PHC. Education is viewed as the key for preparing primary care providers for a reality in which genetics will be present in the daily routine of health care and disease prevention (Khoury 2003). Genetic diseases contribute significantly to the population-wide disease burden, and primary care providers have an important role to play in their prevention and in the identification of patients that could benefit from referral to medical genetics services, as they will remain responsible for the care of these patients throughout the life course (Burke and Emery 2002). In 2009, the Brazilian government published its national policy for comprehensive clinical genetics care (Brasil 2009). This policy includes both specialty medical genetics care and primary care. In the latter setting, the policy provides for identification and follow-up of families with conditions related to congenital anomalies and genetically determined diseases. The objective of this study was to ascertain whether implementation of a medical genetics education program produced for primary care providers could contribute to the integration of concepts and attitudes related to the identification, management, and prevention of congenital malformations and genetic diseases into the care provided at primary health care units.