Genetic Testing: Scientific Background for Policy Makers
Excerpted from Congressional Research Service Report RL33832
Updated May 3, 2007
Amanda K. Sarata
Analyst in Genetics
Domestic Social Policy Division
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Virtually all disease has a genetic component. The term “genetic disease” has traditionally been used to refer to rare monogenic (caused by a single gene) inherited disease, for example, cystic fibrosis. However, we now know that all complex diseases, including common chronic conditions such as cancer, heart disease and diabetes, are the product of some combination of genetic and environmental factors.
For this reason, they could all be said to be “genetic diseases”. Considering this broader definition of genetic disease, the public health burden of genetic disease can be seen to be substantial. In addition, an individual patient’s genetic make-up, and the genetic make-up of his disease, will help guide clinical decision making. Experts note that “(w)e have recently entered a transition period in which specific genetic knowledge is becoming critical to the delivery of effective health care for everyone.” For this reason, the value of and role for genetic testing in clinical medicine is likely to increase significantly in the future. As the role of genetics in clinical medicine and public health continues to grow, so will the importance of public policy issues raised by genetic technologies.
Science is only beginning to unlock the complex nature of the interaction between genes and the environment in common disease, and their respective contributions to the disease process. The information gleaned from the Human Genome Project will help, and is currently helping, scientists and clinicians to identify common genetic variation that contributes to disease. In addition, research conducted utilizing large population databases that collect health, genetic, and environmental information about entire populations will likely provide more information about the genetic and environmental underpinnings of common diseases. Many countries have established such databases, including Iceland, the United Kingdom, and Estonia. The knowledge of the potential relevance of genetic information to the clinical management of nearly all patients coupled with the lack of complete information about the genetic and environmental factors underlying disease creates a challenging climate for public policymaking.
In many cases, the results of genetic testing may be used to guide clinical management of patients. For example, more frequent screening may be recommended for individuals at increased risk of certain diseases by virtue of their genetic make-up, such as colorectal and breast cancer. In some cases, prophylactic surgery may even be indicated. Decisions about courses of treatment and dosing may also be guided by genetic testing, as might reproductive decisions (both clinical and personal). However, many diseases do not have any treatment available (for example, Huntington’s Disease). In these cases, the benefits of genetic testing lie
largely in the information they provide an individual about his or her risk of future disease or current disease status. The value of genetic information in these cases is personal to individuals, who may choose to utilize this information to help guide medical and other life decisions for themselves and their families. The information can affect decisions about reproduction, the types or amount of health, life, or disability insurance to purchase, or career and education choices. As genetic research continues to advance rapidly, it will often be the case that genetic testing may be able to provide information about the probability of a health outcome without an accompanying treatment option. This situation again creates unique public policy challenges, for example, in terms of the financing of genetic testing services and education about the value of testing (see S. 609, 109th Congress, for example).
Concerns about privacy and the use and misuse of genetic information, as well as issues of genetic exceptionalism and genetic determinism, may need to be balanced with the potential of genetics and genetic technology to change how care is delivered and to personalize medical care and treatment of disease.
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The John Hopkins Genetics and Public Policy notes that generallystate public health programs, and not federal programs, decide which tests should be offered to facilitate early diagnosis and treatment.


