The Implications of These Disorders

Most of the disorders sought by newborn screening are inherited, usually as autosomal recessive disorders. If parents have a child with one of these diseases, they have a one in four chance in each subsequent pregnancy of having another affected child. Children with such a disease can have affected children themselves if they have children with partners who have one or two copies of the same mutated gene. Some screening protocols, such as those for sickle-cell disease and cystic fibrosis, also detect carriers (children who have a single copy of a mutated gene). While these children do not have the disease, the presence of a mutated gene signals an increased risk of having a truly affected child, both for them and for their parents. From an ethical perspective, it seems obvious that parents should be told about all of these implications, but this sort of communication often does not occur.

One of the more difficult ethical questions is whether parents should be encouraged to alter their future reproductive plans in order to decrease the costs of disease to society.

The general consensus is that decisions about having children are to be made by the prospective parents according to their own values, and that genetic counseling is to be nondirective (Andrews, Fullerton, Holtzman, et al.).

Another complex issue is whether decreasing the number of affected children born, whether as a result of state intervention or even of independent decisions by prospective parents, should be seen as an additional goal or benefit of newborn screening. Some governmental officials have made this argument, even calculating the decreased healthcare expenditures that follow from the birth of fewer affected children in their efforts to calculate the cost efficacy of newborn screening (Cunningham). Others, including advocates of disability rights and opponents of prenatal diagnosis, find these arguments distasteful and potentially coercive (Asch).

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