programs, undertaken to assess the value of screening for management or the provision of reproductive options.

Criteria for Testing

Tests should be of benefit to the individual tested, and if offered to anyone they should be offered to everyone. Singling out of subpopulation groups for genetic testing raises the potential for stigmatizing such groups. The tests should be reliable and accurate, being reasonably specific and highly sensitive. Results should be communicated quickly and under circumstances that take into account the implications of the news and its impact on the feelings of those receiving it. Standards should be uniform throughout the Nation. Mechanisms to ensure consistency and continuous evaluation should be instituted. Centralization of screening laboratories is desirable to maintain standards. Screening should not be undertaken in the absence of pilot studies or facilities for follow-up.

(summarized from NAS, 1975)

The committee finds itself in strong agreement with these criteria, especially the principle that tests should be of benefit to the individual being tested. This principle has several applications. In newborn screening, it means that testing should be undertaken only to benefit the newborn. In screening for disease management, the interventions that follow the test should benefit those screened, and not be used against them. The committee was concerned that some uses of genetic test information may represent harmful and unwarranted intrusions on individual privacy. For example, in adoption cases, information from genetic screening programs should not be used in a detrimental way to determine suitability as adoptive parents or as a potential adopted child. Obviously, the use of genetic information, as well as other medical information, in adoption is a complex subject, and requires further study (see Chapter 9).

The committee also agrees that there should be equal access to testing, with the further condition that equal access should be provided for people at approximately equal risk of having a genetic disorder. If there are wide discrepancies in risks to subsegments of the population, there would be no need to screen those at lower risk; the committee believes that the mere availability of a genetic test should not mean that it should necessarily be offered to everyone. Such a policy might be difficult to implement, but—if a low-risk group can be delineated—the committee does not believe that it would be necessary to offer them testing. This will help to hold down the costs per case averted at a time when neither the states nor the federal government is as likely to finance an expansion of genetic testing or screening as they were for PKU and sickle cell anemia. Equal access may also depend on reforms in our health insurance system that will either pay for, or reim-

The National Academies | 500 Fifth St. N.W. | Washington, D.C. 20001
Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement