Economic implications of genomics
Cost effectiveness and affordability of genetic services
Currently a variety of genetic services are available for the prevention, management and treatment of birth defects and conditions caused by genetic factors. They can be diagnostic, preventive or therapeutic in nature.
The use and delivery of genetic services has not kept pace with the many advancements in medical genetics and genetic technologies. In most countries genetic services are either lacking or in nascent stages of development. Further, the quality and availability of genetic services vary between high-income countries and low- to middle-income countries. In the United States, Canada, Australia, United Kingdom, and other European countries, genetic services are well established, advanced and widespread. These services include carrier identification screening, prenatal diagnosis, new-born screening, and reproductive technologies. Yet in many high-income countries, genetic services that are offered in multiple settings (including community clinics, academic health centres, public health departments, and private practice) still need improved systems of assessment. Genetic services have been implemented in developing countries since the 1970s and 1980s through teaching hospitals in major urban areas or as part of research projects, without coordination with related health services. The emphasis has been on clinical genetics, dysmorphology, cytogenetics, and prenatal diagnosis of chromosomal anomalies. Biochemical genetics laboratories are scarce and DNA-based diagnosis, which can be inexpensive, is available in only a few centres in low-income countries. Medical genetic specialities have been set up in Mexico, Cuba, Brazil and Argentina. Outside of United States, Canada and Europe, genetic clinics can be found in countries of Chile, India, Korea, Japan, Mexico, Netherlands, Singapore, and Turkey.
Lack of information on genomics and scarce health financing options, are some barriers among many, that also affect the use of genetic services among populations in both high income and low- to middle-income countries. In addition, due to the very nature of genomics, cultural norms play an important role in determining the beliefs, attitudes and behaviour of the individual towards the science and its implications.
Genetic technologies, applied on a broad-based regulatory model, can significantly improve the health and lives of millions across the globe. Health policy can play a pivotal role in the expansion of genetic services that can be made more accessible and affordable for the public. As the science matures, policy makers and planners world-wide are finding it increasingly hard to ignore the implications and relevance of genomics to future health challenges confronting the public. At this end, cost effective analysis of genomic technologies and services is needed to determine policies and programmes that yield the maximum health benefits. Such an analysis takes into account factors such as prevalence of the mutation and disease; burden of suffering; efficacy of treatment, accuracy of genetic testing, effectiveness of genetic screening; safety and adverse effects; and economic costs and should pre-empt the possible integration of genetics into primary health care. Although genetic research is presently under represented in health research, studies are being conducted to establish the feasibility of such services. At present genetic services are expensive and therefore not accessible by all.
While, there are several country based directories that offer listings of specific genetic testing services available, a centralised resource remains to be established to get an overall picture of the global status of genetic service provision. Present disparities in affordability and feasibility of genetic services between low-to middle-income countries is a cause of concern for the World Health Organization and other prominent international organizations that are centred around public health and development concerns.