Genetic and biochemical screening for endocrine disease: III. Costs and logistics

The cost of screening tests in endocrine disease can be determined in a number of ways, including the charge or billed cost, the production cost, or most appropriately the cost to achieve the intended aim of the test (cost-effectiveness). Cost-effectiveness analysis allows clinicians to determine whether an added benefit of a test comes at an acceptable cost. For example, analysis of the cost-effectiveness of routine thyroid function tests prior to surgery in elderly patients with nodular thyroid disease shows that the cost per life saved is only US $405, making the tests clearly cost-effective. Cost-effectiveness does not always equate with affordability, however, especially in developing countries. Thyroid function testing prior to surgery represents only 0.8% of the average household income in Australia and is therefore both cost-effective and affordable, whereas in Sri Lanka the same screening test represents up to 50% of the average monthly income. A survey of membership of the International Association of Endocrine Surgeons worldwide showed that molecular genetic screening for endocrine disease is readily available in 67% of institutions, with all of those having facilities for the rearrangement during transfection (RET) proto-oncogene testing, and lesser numbers having access to the Menin gene, the von Hippel-Lindau syndrome (VHL) gene, or linkage analysis for familial pheochromocytoma. The median cost of screening for the RET proto-oncogene was $290 (range $100-3000). Cost-effectiveness analysis of molecular genetic screening for MEN-II syndrome demonstrates that the cost per life saved is only $5175. This compares favorably with reliance on screening based on annual pentagastrin testing, where the cost per life saved is as high as $76,315. Molecular genetic screening for endocrine disease (e.g., the MEN-II syndrome) is not only cost-effective but the therapy required (total thyroidectomy) is both acceptable and well tolerated.