Genetic Testing

Dave Amber1 reviewed the public's risks in genetic DNA testing and the potential need for federal oversight to ensure the accuracy and predictability of these tests to avoid erroneous preventive surgical and medical care. The added user cost to the public for this Food and Drug Administration surveillance is yet to be determined. DNA testing has become more complicated than expected in that the variations of genetic mutations are numerous. A negative DNA test for a known hereditary cancer syndro

Sep 4, 2000
Ramon Fusaro

Dave Amber1 reviewed the public's risks in genetic DNA testing and the potential need for federal oversight to ensure the accuracy and predictability of these tests to avoid erroneous preventive surgical and medical care. The added user cost to the public for this Food and Drug Administration surveillance is yet to be determined. DNA testing has become more complicated than expected in that the variations of genetic mutations are numerous. A negative DNA test for a known hereditary cancer syndrome does not always indicate an absence of that syndrome as the kindred may have a previously unrecognized mutation. If a hereditary cancer syndrome has been identified in a kindred and DNA testing of its members is requested, multiple members of the kindred will need to be tested for the establishment of the presence of that mutation. It is only then that a negative DNA test in other members of the kindred would be valid for the absence of that specific mutation in the individuals.

Alternatively, the presence of a hereditary cancer syndrome can be established with an extremely high degree of certainty with informatics analyses of phenotypic cancer occurrence patterns in the pedigrees of families under observation.2 Cancer clinics employing such services can identify in kindreds either the presence or absence of almost all specific hereditary cancer syndromes. If the informatics analysis shows the absence of a hereditary cancer pattern in a family, then the kindred under consideration has only the cancer risks of the general population. One such service using informatics analyses has been shown to be extremely cost-effective in identifying with extremely high likelihood the presence of any specific hereditary cancer syndrome in kindreds.2 Because of continuous updating of the database of the program, it outlines to the patients' physicians the most current preventive cancer care strategies, both medical and surgical, for the specific cancer syndrome detected to reduce the cancer risks for the members of the kindred. Its recommendations of preventive cancer care for all members of a high-cancer-risk kindred avoids the psychological interpersonal guilt and hostility that can result from DNA testing of individuals.

The economic public health advantage for health maintenance organizations and other health insurance carriers authorizing [these] informatics analyses is its immediate practical availability of accurate diagnostic results at very low cost and its potential use at all economic levels of the public. By identifying those kindreds with high hereditary cancer risks, we can presently institute cost-efficient and effective current preventive cancer care strategies to reduce cancer occurrences while awaiting the future resolution of DNA testing and its need for both quality control and quality assurance. In the future, informatics analyses will allow us to cost-efficiently apply DNA testing and minimize indiscriminate expensive DNA testing.

Ramon M. Fusaro, M.D., PhD
Professor, Hereditary Cancer Institute
Department of Preventive Medicine and Public Health
Creighton University School of Medicine
Omaha, NE 68178-0403
rmfusaro@Creighton.edu

1. D. Amber, "Oversight of genetic testing," The Scientist, 14[15], 24, July 24, 2000.

2. S. Evans et al., "Clinical results using informatics to evaluate hereditary cancer risks," Proceedings of the Annual Symposium on Computer Applications in Medical Care, R.M. Gardner, editor, Philadelphia, Hanley & Belfus, pages 834-8, 1995.