The World Health Organization is currently promoting a plan of action for the prevention and care of congenital disorders through Resolution WHA63.17 adopted at the 63rd World Health Assembly in May 2010.
Globally, WHO promotes the collection of data on the frequency rates, morbidity and mortality burden of congenital disorders through strengthening epidemiological research.
At regional level, WHO can organize consultations attended by representatives from Member States (e.g. geneticists, Ministry of Health and other policy-makers) and international experts to discuss the programming and implementation of the action plan and any foreseen problems or limitations.
At national level, WHO can support Member States in forming a national committee with a designated focal person to formulate plans and strategies for the care and prevention of congenital disorders at primary health-care level.
WHO can also support Member States in developing ethical and legal guidelines in relation to congenital disorders in line with local culture, social and religious norms and can help organize training and education courses for primary health-care providers to increase genetics literacy.
WHO can play a crucial role in helping low- and middle-income countries plan and implement, with equity and quality, community genetics services to all those in need. Moreover, WHO can lead the initiative in encouraging collaborations among these countries in the fields of clinical and diagnostic laboratory genetics services. WHO can also play an important role in disseminating information to promote synergistic actions and collaborations in different countries.
Several steps are required for the further expansion of current genetics services to include community-based operations in primary care. Firstly, epidemiological research must be stimulated to provide better data on the prevalence and types of congenital disorders, genetic diseases and genetic predisposition to common diseases. Genetics professionals must be educated in community health and public health genetics, and public health professionals in the goals and methods of community genetics. Interactions between clinical geneticists, public health personnel, primary health-care workers and community organizations must be stimulated. Duplication of services can be avoided by appropriate regionalization.
Public health officials must become familiar with the applications of medical genetics for the public’s health, and define realistic goals for genetics services, centred on the health and well-being of individuals and families, not on rigid population goals. The voluntary nature of genetic testing and cultural diversity in reproductive decision-making must be respected, and discrimination by genetic characteristics rejected.
A comprehensive effort is needed in medical genetics education. Attention should be directed towards training in medical genetics, including genetic counselling, for general physicians and allied health professionals, such as nurses, psychologists, social workers, etc. Practical aspects of medical genetics, with a community-based approach, need to be taught both in medical schools and in schools of public health. Health officials need to become involved in the design and implementation of community-based programmes for care and prevention of birth defects and genetic disabilities. Finally, the public at large needs to be educated in medical genetics to address common misconceptions and fears, and to inform them of available services.
There is a necessity for transition from tertiary care-based genetics services to a more sustainable model based in primary care. A public health infrastructure is essential for the development of community genetics services. Interestingly, that structure is largely present in many LMIC, and certainly in most Latin American countries. However, it is inefficient and underfunded, and clear goals and political will are essential for the successful prevention and care of genetic disorders at community level.
The accomplishment of this goal requires the synergistic action of all stakeholders mentioned in this section. A strategy worth supporting is that of partnerships between institutions and organizations of LMIC with similar LMIC institutions and organizations (South–South collaborations) and of high-income countries (North–South collaborations).
WHO is the world leader in establishing health priorities and in identifying the principal determinants of health and disease, particularly in developing countries.
WHO has also been the world leader in introducing the need to address congenital disorders and genetic diseases as targets for prevention and care in developing countries. It is essential that WHO now uses its leadership and reputation to ensure that the scientific and technological developments in genomics and allied disciplines are used equitably. This will serve to guarantee improvement in the means for early detection, treatment and prevention of diseases and conditions influenced by genetic factors, to benefit all populations irrespective of their economic means. To this end, WHO needs to bring together all other stakeholders for high-level discussions on the most efficient ways to proceed in the care and prevention of congenital disorders and genetic diseases at community level. Given the cultural, historical, economic and health status heterogeneity in the different regions of the world, it would be more appropriate and effective for this activity to be conducted by WHO regional offices in the countries of their regions. Initial steps could involve workshops, organized by each regional office, with the participation of the ministries of health of the countries of each WHO region, to which the other stakeholders would be invited.
During the years 2007 to 2009, WHO Regional Office for the Americas conducted a series of sub- regional workshops in community genetics and public health in Latin America and the Caribbean. These delivered excellent results in terms of commitment by ministries of health to the support of community genetics programmes (Penchaszadeh 2009, unpublished).
In 2010, WHO Eastern Mediterranean Regional Office (NCDs) prepared a report on the situation analysis of congenital disorders in their region. The principal objective of the report was the collection of available data from countries of the Eastern Mediterranean region on the epidemiological profile and available genetics services for congenital disorders. The aim also was to direct planning of appropriate future strategies for the care and prevention of congenital disorders in Eastern Mediterranean region countries (Hamamy 2010, unpublished).
The involvement of WHO Collaborating Centers should be pursued. At present, there are 12 collaborating centers in Human Genetics.
International experts have a significant role to play, particularly in discussing with local authorities and health professionals in the host countries the experiences of other countries in the development of community genetics services. Care should be taken, however, to ensure that the experts in those countries are recognized and take the lead.
Academic institutions need to engage in the teaching of community genetics at all levels of their educational programs for health professionals. They will, thus, become excellent resources when it comes to designing and implementing education programs in community genetics to policy-makers, other stakeholders and the general public. They can also lead research projects related to community genetics in their countries.
It is important that professional organizations, dealing with medical genetics and public health in different countries, support the notion of genetics services at community level (as defined above in this document), as being the best strategy to convey the benefits of genetics to the population. Public health professional organizations are essential in achieving consensus on the importance of autonomy and freedom of choice for individuals and couples, and in establishing priorities, cost– benefit considerations, resource allocation, and predicted outcomes of interventions. Partnerships with similar institutions and organizations in high-income countries have been considered valuable for both professional and parent–patient associations.
Public–private partnerships need to be developed to allow the private sector to return a proportion of their earnings to the public. However, a democratic decision needs to be made by the populations of the relevant countries, in line with evidence-based criteria, as to the policies, priorities and methodologies of the use of these funds, so that they benefit local communities.
Parent–patient associations strive to make government officials and political leaders aware of the needs of patients and families afflicted by congenital disorders and genetic diseases. These organizations tend to work closely with academic clinical genetics centres and, with their support, are able to produce comprehensive educational materials for the general public. The materials include audio-visual presentations, audiotapes and lesson packages of teaching materials for schools. Parent–patient associations establish public awareness campaigns that distribute information on the availability of genetics services. Recent campaigns addressed the importance of folic acid in primary prevention in the pre-conception period and described the available services making use of free publicity, advertisements etc. Parent–patient associations also take a stand on topics such as patenting of genetics material, the various international declarations pertaining to the human genome in the context of human rights, and the need for genetics services at community level.
The media and the political leaders have shown an increasing interest in the opinions of parents and adult patients, who, due to their own personal experiences, have become experts themselves. Parent–patient associations also contribute to research efforts by encouraging their members to participate in biomedical research. In most countries the alliances are recognized by governmental bodies. They have increasing political influence because of the large numbers of individuals whom they represent.
Some parent–patient associations, such as the World Federation of Hemophilia, have successfully developed twinning programmes worldwide 1.
Parent–patient associations in developed and developing countries play an important role in a number of ways in the well-being of individuals affected with congenital disorders and genetic diseases. They should be partners in any program to develop community genetics services.