Recommendations for the development of genetics services at community level should adopt the following procedures:
- Convene all appropriate stakeholders: Stakeholders include ministries of health, public health professionals, physicians and other health professionals, parent–patient organizations, medical geneticists, community leaders, and others according to the specifics of the country.
- Identify problems and needs: This involves conducting epidemiological studies and needs assessment analyses to determine the most prevalent congenital disorders and genetic diseases, the burden they impose on health and the existence of preventive and therapeutic interventions of proven validity and utility. Registers of congenital disorders and genetic diseases are the best instrument in the collection and analysis of such
- Establish clear and measurable objectives and goals: This involves training health professionals in basic concepts of genetics and their application to community genetics services, implementing specific interventions, such as preconception and prenatal care, genetics counselling, carrier detection and newborn
- Determine the most efficient interventions to achieve the goals: Experience and examples from different countries indicate that the most common genetics services at community level (i.e. “minimum package of interventions”) (WHO 2010) are:
- Training health professionals in basic concepts of genetics and their application to community genetics services;
- Use of family history as an instrument to detect genetic risks;
- Pre-conception and prenatal care, including folic acid fortification or supplementation, addressing the genetic risks of maternal age and consanguinity, genetic counselling when needed, prenatal ultrasound screening to detect fetal abnormalities, and referring detected genetic problems to a tertiary centre for proper management;
- Public education to avoid alcohol, tobacco and potential teratogens in gestation;
- Carrier detection for haemoglobinopathies in countries where these conditions are a significant burden to public health, followed by genetic counselling and the option of prenatal diagnosis where voluntary termination of affected pregnancies is acceptable;
- Clinical detection of congenital disorders in newborns and appropriate referrals to higher levels of care for diagnosis and treatment; and
- Newborn screening for congenital conditions in which early intervention is effective, such as congenital hypothyroidism, followed by treatment and other services for life. Newborn screening with proper management for genetic conditions common in each country could also be considered.
- Implement the interventions identified, following the ethical, legal and social guidelines, and evaluate outcomes.
From a WHO Human Genetics perspective it would be desirable to start by supporting the development of community genetics services in selected countries as demonstration projects (perhaps one country per WHO region), on the basis of demographics, politics, epidemiology, state of health services, cultural and religious factors, etc. Among the political aspects that must be considered are the motivation and political will of health policy-makers in implementing model community genetics programmes in their countries.
Health authorities need to create within the ministry of health of each country a particular interdisciplinary committee in community genetics, composed of specialists in clinical genetics, clinical medicine, epidemiology, public health, community health, bioethics, and other relevant disciplines, with the significant participation of parent–patient support groups. This task force would be in responsible for being in contact with the relevant country and WHO regional office, and thus have access to international expertise, preferably from the same region, or South–South collaborations.
On the basis of the objectives set out in the 2008–2013 NCDs Action Plan, the following could be applied similarly to the action plan for the care and prevention of congenital disorders:
- to raise the priority accorded to congenital disorders at global and national levels, and to integrate care and prevention of such diseases into policies across all government departments;
- to establish and strengthen national policies and plans for the care and prevention of congenital disorders;
- to promote interventions to reduce the modifiable risk factors for congenital disorders e.g. tobacco and alcohol use during pregnancy, micronutrient deficiencies, prevention and timely management of teratogenic infectious diseases, proper management of maternal illness such as diabetes and epilepsy, and control of occupational hazards to pregnant women;
- to promote research for the care and prevention of congenital disorders;
- to promote partnerships for the care and prevention of congenital disorders;
- to monitor the progress of the program for the care and prevention of congenital disorders at national, regional and global