Recent advances in the understanding of how genetic factors contribute to disease susceptibility, the progression of disease, and responses to treatment, pose new challenges for health services.
The underlying DNA defects responsible for many rare single-gene diseases have been pinpointed, and DNA-based diagnostic and predictive tests have been developed. Progress is now being made in identifying some of the normal DNA variants (“polymorphisms”) that, together with environmental and lifestyle factors, determine susceptibility to common illnesses such as cardiovascular disease, diabetes and cancer. Information stemming from the Human Genome Project seems certain to accelerate discovery in this area.
Genetic scientists are pushing back the boundaries of what is possible, but there are many other factors that must be taken into account before scientific discoveries can be translated into service intervention.
Not least among these are the economic consequences. For example, what are the costs of implementing genetic testing services for an increasing number of rare single-gene diseases? What are the potential costs of new genetically-based technologies such as gene therapy? How might the introduction of tests for genetic predisposition to disease perturb current patterns of expenditure on prevention and treatment? What will be the balance between costs and benefits?
The area of genetics that is arguably the closest to service implementation is that of pharmacogenetics: the tailoring of drug therapy to the individual by testing for DNA variants that affect the safety and efficacy of different drugs. Under what circumstances will pharmacogenetic testing be cost-effective and how will it affect the pricing of drugs?
It was with such questions in mind that a one-day workshop was convened to discuss the health-economic consequences of advances in genetic science.
