Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences.

Date:
1974
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Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences. Source: Wellcome Collection.

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    14 M. LAPPÉ AND R. O. ROBLIN Even now where one central testing facility serves an entire state, problems may exist in communication of positive results to parents of infants with PKU and their doctors and in appropriate follow-up. There are at least two potential sources of difficulty. First, because of the geographic separation of the testing center and the patient's location, effecting the repeated testing and follow-up required to unambiguously establish the PKU diagnosis will be more laborious and time-consuming. Treatment poses similar problems since clinical experience has demon¬ strated that individual requirements for phenylalanine among PKU patients vary greatly[and] one child may require 3 times as much dietary phenylalanine as another to maintain the same blood level [of phenylalanine] Thus, periodic monitoring of the effects of the low phenylalanine diet is an essential component of the care of phenyl- ketonurics. Many local medical facilities may lack the necessary equipment to do this periodic monitoring. Second, if genetic counseling of the parents is viewed as an essential component of the neonatal genetic screening program (as we believe it should be), delivering this health care component will require either visits by parents of PKU infants to the central testing and counseling center, or a roving genetic counselor. The organization of neonatal genetic screening programs is intimately connected to the source of the funds for testing programs. To date, although state governments have shown themselves willing to mandate PKU testing, they are less willing to appropriate adequate funds to finance the screening programs. For example, the above cited Massachusetts Metabolic Disorder Screening Program receives only about 20% of its annual budget from the Massachusetts Department of Public Health. Without the federal grant which covers the remaining 80% of its costs, the Massachusetts screening program could not continue (H. Levy, personal communications). If the Massachusetts situation is typical, state legis¬ latures have yet to face the true costs of neonatal genetic screening programs for PKU. Given the present funding pinch for most state legislatures, it may prove difficult to induce them to increase their appropriations for neonatal genetic screening programs. If federal funds continue to take up the slack in paying for genetic screening programs, one must ask whether there is an equal distribution of such funds so that all neonates share equally in the benefits from PKU diagnosis and treatment, and whether other medical priorities have been considered. Cost-Effectiveness and Priorities in Neonatal Screening Programs Many evaluations of neonatal genetic screening programs, including this one, are permeated by references to their cost-effectiveness.