Abstract for presentation at 11th International Congress of Human Genetics

Priority-setting for genetic services in developing countries

  • Dr Victor Penchaszadeh, Mailman School of Public Health, Columbia University, United States
  • Congenital anomalies and diseases associated with genetic factors are increasing their share of the burden of disease in developing countries, setting up debates on how much priority should these nations give to the prevention and care of those conditions. Complicating this debate is the fact that diseases of poverty (infectious and nutritional diseases) and other non-genetic conditions continue to be the major contributors to morbidity and mortality in these countries. Furthermore, resources allocated to the public's health tend to be scarce and inequitably distributed, usually to the detriment of the underprivileged. A corollary of these shortcomings is that the prevalence and impact of disorders associated with genetic factors are consistently underestimated, providing unwarranted justification for not developing services for the prevention and care of these conditions. In fact, a number of studies in the last two decades have consistently shown that (a) prevalence rates of congenital anomalies and other diseases associated with genetic factors in low-and-medium income countries are similar or higher than in industrialized countries, and that (b) there are a number of low-cost, high-efficiency interventions that can reduce the burden of disease due to some of these conditions, such as detection of genetic risks by family history, genetic counseling and testing, prenatal and newborn screening. These interventions should be based at the primary health care level and prioritized according to sound epidemiological data (prevalence and burden of disease, existing resources) and assessment of specified expected outcomes. Furthermore, they must be supported by public funding without detriment to other health priorities, to ensure equitable availability and access.

    Conference Organiser - ICMS Pty Ltd