Following the call of the WHO 2010 report on Community Genetic Services (CGS), this initiative seeks to continue and expand education and dialogue related to genetic services in underserved areas.
Genetics is an important, and often under-recognized, contributing factor to disease and ill health worldwide. Inherited conditions affect millions of families throughout the world. It is estimated that about 5% of all pregnancies result in the birth of a child with a significant congenital disorder, many of which are due in part to genetic factors. In developing countries hereditary conditions account for about 15% to 25% of perinatal and infant mortality. At least 7.6 million children are born annually with a severe congenital and/or genetic disorder. In the absence of appropriate facilities and care, most of these children die undiagnosed, early in life. The overriding ethical issue is the lack of accessible, affordable, safe, medical care and services for these children and their families.
WHO/CGS has identified the need to ensure that health professionals have an adequate understanding of genetics and genetic services, national governments should require that genetics is a significant component of all medical training, and that health professionals have regular opportunities to access continuing education to update their knowledge about genetics, available medical genetic services, and the relevant ethical, legal, social and human rights issues.
National governments should foster dialogue and cooperation among policy makers, patients and families, clinicians, geneticists, religious leaders and other stakeholders, to establish and implement genetic services in a manner that is culturally acceptable and maximizes the health benefit to patients.
Regarding the development of genetic counseling, it is the responsibility of national governments to ensure that genetic testing and screening programmes have trained genetic counsellors available to provide genetic counselling. Due to the significant shortages of genetic counsellors in developing countries, short-term courses should be implemented as an interim measure to increase capacity in genetic counselling. These should be directed at existing primary health care workers (nurses, physicians, geneticists and other health care personnel providing medical genetic services). Graduate programmes in genetic counselling, though the accepted standard in developed countries, are unlikely to be feasible for many developing countries in the short to medium term.
WHO/CGS further recommends that international organizations, in collaboration with civil society and relevant experts, should develop guidelines specifying the minimum skills required for genetic counselling to assist developing countries in designing short-term training in genetic counselling in order to scale-up local capacity.
Maternal and Child Health Applications
The convergence of genetics and public health is not a comfortable occurrence, particularly for those in public health. Human genetic technologies represent capacities to alter and improve human biology and to intervene in the natural world, in short, to extend human control over ourselves and our environment(s). Such technical intervention is nothing new, it is part of our human nature, and thus might not be restricted but embraced.
On the one hand, an unconditional approach would affirm the technological imperative (the fact that we can do something means that we should), holding that technical capacities are self-justifying, and that using such technologies is part of our nature as humans as tool-making, tool-using animals. This unconditional affirmation of human genetic technology recognizes a social obligation to foster the development and use of these technologies. On the other hand, a conditional approach might affirm human genetic technologies unless there is a preponderance of evidence that potential harms would outweigh any potential benefits (it would incorporate some cost benefit assessment).
Cutting-edge technology is now available that can test newborns for more diseases than has ever been possible. CDC is working to harness the latest advances in science and technology so that more disorders can be detected accurately and treated quickly. For example, the US Centers for Disease Control (CDC) has established the Newborn Screening Translation Research Initiative (NSTRI), working with corporate, academic, and Foundation partners to assure the quality of research methods during both pilot studies and routine screening.
Recommended Goals for such screening include:
developing new screening tests for specific disorders.
adapting innovative methods such as DNA testing and nanotechnology for screening and quality assurance.
transferring new screening technologies to state public health laboratories.
assisting states with pilot studies related to new screening tests for newborns.
supporting state laboratory functions when states add disorders to their current panel of tests.
The Role of Mobile Health
Mobile technology has great potential to revolutionize how populations interact with national and emerging global health services. Mobile wireless technologies for public health, for example, have been shown to increase access to health information, services and skills, as well as promote positive changes in health behaviors to prevent the onset of acute and chronic diseases. In order to realize these gains, WHO Member States are seeking to identify standardized approaches for applying mHealth in health systems and services.
Recognizing the potential role of mobile health (mHealth) to support genetic screening and health care, the ISfTeH Mobile Health Working Group, in collaboration with the New York Institute of Technology/College of Osteopathic Medicine, serves as a resource and clearinghouse for information on mHealth and e-health applications for maternal screening and community genetics.
Following WHO priorities and recommendations, this includes support for ongoing efforts to build evidence-based guidance on the use of mobile technologies, in order to advance integrated person-centered health services and universal health coverage.
The Working Group on mHealth promotes and identifies innovative research and best practices in mobile health around the world, such as the World Health Organization’s Global Observatory for eHealth (GOe) and Community Genetic Services initiatives, and the New York Regional Technology Project (NYRTP).