Genetics and Public Health

Genetic testing and screening further public health goals of preventing and treating diseases in the population in many ways. Because many diseases and conditions result from interaction among genes, behavior, and environment, understanding the role genes play in contributing to diseases clarifies the ways in which environmental and behavioral influences may lead to the onset of diseases. With this knowledge public health professionals can shape their assessment, policy development, and assurance techniques more effectively. Public health professionals can promote the use of genetic tests and services when inexpensive and effective treatments are available to advance the collective health of the population. An example mentioned involves newborn screening programs, which are expanding in scope as new genetic causes and treatments of disorders are discovered.

Genetic testing and screening for multifactoral conditions such as cancer may allow susceptible persons to change their behaviors and environment, thus improving public health. Public health officials may be best equipped to conduct population research to evaluate the clinical validity and utility of genetic testing and screening. Also, those officials can play a substantial role in the dissemination of information to medical professionals and the public about the role of genetics in health (Gostin, Hodge, and Calvo).

The use of genetic tests and screening for public health purposes, however, can be problematic. Genetic tests that have high rates of inaccuracy can lead to low predictive values when they are incorporated into a genetic screening program. Significant numbers of tests results that are false positive (healthy persons are wrongly determined to be affected by a genetic disease or condition) and false negative (persons who are affected go undetected) can follow. Experience with genetic screening for sickle-cell anemia among African-Americans in the 1970s demonstrated the potential discrimination that may follow a public health screening program (New York State Task Force on Life and the Law). Beyond obvious individual harms, genetic screening programs that are not scientifically sound or justifiable on societal grounds have little utility in public health. With limited resources for preventive public health measures, genetic screening programs that produce small yields (the number of newly recognized cases derived from the screening) as a result of inaccurate testing or other failures can compromise public health goals. Stated simply, poorly administered or poorly designed genetic screening programs that use inaccurate tests or insufficiently target at-risk populations negatively affect individuals and result in minimal or no improvement in public health.

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