Role and availability

Role and availability of community genetics services

Role of community genetics services

Community genetics services include a number of activities for the diagnosis, care and prevention of genetic diseases at community level (Alwan & Modell, 1997; Penchaszadeh 2002; Christianson & Modell, 2004):

  • diagnosis of congenital disorders and genetic diseases: clinical and laboratory (cytogenetics, biochemical assays, DNA testing, );
  • genetics counselling;
  • pre-conception care;
  • prenatal screening;
  • prenatal and pre-implantation genetic diagnoses;
  • newborn screening;
  • carrier screening;
  • population genetic screening according to other established


These activities are implemented with different emphases and complexities in the primary, secondary and tertiary levels of care. In addition, community genetics is concerned with:

  • improving genetics literacy and education among the public and health-care providers;
  • the epidemiology of congenital disorders and genetic diseases;
  • regionalization of genetics services with emphasis on primary care;
  • registries of congenital and genetic disorders;
  • special education and rehabilitation;
  • public consultation regarding genetics issues;
  • population medical genetics;
  • economic issues;
  • psychosocial issues;
  • ethical and legal issues;
  • policy


Availability of community genetics services

Availability of community genetics services in LMIC is less than adequate due to a number of issues, including the following (Penchaszadeh, 2004; Hamamy et al., 2007):

  • paucity of resources – genetic conditions not being considered priorities by the medical profession and public health officials;
  • numerous unaddressed needs in other areas of health care, such as infectious diseases, malnutrition, antenatal care, labour and delivery care, and newborn care;
  • the presence of other competing priorities, such as the needs for the control of communicable diseases and noncommunicable chronic disorders such as cardiovascular diseases, cancer and diabetes;
  • misconceptions that the control of common congenital disorders is too costly and linked to sophisticated technology, thus limiting its introduction to the general public; genetics services being misperceived as costly and dealing only with rare diseases;
  • low genetics literacy among the health sector and general public with lack of awareness of genetic risks and possibilities for prevention of congenital disorders;
  • community services possibly being restricted by certain cultural, legal and religious limitations such as the cultural fear of families with genetic diseases to be stigmatized within their community and the legal and religious restrictions to selective abortion of an affected fetus;
  • the public being largely unaware of genetic risks and the possibilities of prevention;
  • an insufficient number of trained health professionals;
  • inadequate data on the magnitude of the health and economic burden of congenital disorders.