selection of particular biomarkers for a specific research or public health purpose would need to include careful consideration of such factors as the ease of collecting a particular biological specimen and the cost of biological analyses.

Biomarkers of Susceptibility

Biomarkers of susceptibility include such factors as biological measures of health and genes. A child’s current health as reflected in his or her level of immunity or level of cortisol production may also serve as a valuable indicator of biological susceptibility. Under certain circumstances, age can serve as a proxy for developmental susceptibility, such as the age of risk for sudden infant death syndrome (infants) or testicular cancer (adolescents). The composition of ages in a population, obtainable from the U.S. Census Bureau, can be used as an indirect indicator of susceptibility in the population for specific age-related health conditions. However, most measures of biological susceptibility require some form of biological assay.

As discussed in Chapter 3, polymorphisms (variations from person to person in a gene’s molecular structure) in certain genes may impart susceptibility to certain environmental exposures. A biomarker of susceptibility for the individual would be the specific genotype of that gene, while the biomarker of susceptibility for the population would be the frequency of that genotype. An example of an existing database for genes of susceptibility includes newborn screens. Newborn screen testing varies from state to state, but most states include screening for hyperphenylalaninemia (PKU), hypothyroidism, classical galactosemia, and hemoglobinopathies.1 While congenital hypothyroidism is not always caused by a genetic polymorphism, the screen identifies cases that are genetic in origin. The newborn screen is the only universal population-based database in the United States for children’s genetic susceptibilities.

Biomarkers of Exposure

There are several measurement activities for internal dose/body stores/body burdens. Two major programs are being conducted by the Centers for Disease Control and Prevention (CDC): the biomonitoring program and the National Health and Nutrition Examination Survey (NHANES) survey. The process of expanding biomonitoring capability to select state laboratories is currently under way (Federal Register, Vol. 68, No. 64/Thursday, April 3, 2003/Notices p. 16287).


A listing of the tests done in each state, as well as the summary results of the screening, can be found at the following web site:

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