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

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