Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics
- Genetics in Medicine
- (2015)
- doi:10.1038/gim.2015.41
- Received
- Accepted
- Published online
Clinical utility for genetic tests was discussed in 1998 by the US Task Force on Genetic Testing. The Task Force specifically stated that “the development of tests to predict future disease often precedes the development of interventions to prevent, ameliorate, or cure that disease in those born with genotypes that increase the risk of disease. Even during this therapeutic gap, benefits might accrue from testing.”1 In the broadest sense, “clinical utility” refers to the likelihood that a given intervention (in this case, genetic information) will lead to an improved health outcome2 or to whether a test can provide information about diagnosis, treatment, management, or prevention of a disease that will be helpful to a consumer.3 Establishing an etiological diagnosis is generally asserted to no longer be sufficient to claim clinical utility. Further, evidence that physicians change their management of a patient based on an etiological diagnosis is said to lack clinical utility unless clinical outcomes research has demonstrated that such changes in an individual’s treatment will result in benefit.4 Moreover, coverage decision-making policy is now driven by a narrowed perspective that clinical benefit accrues only to the individual receiving the services.
The American College of Medical Genetics and Genomics (ACMG), which represents the medical genetics professional community, profoundly disagrees with the narrow view held by some payers. We submit that the clinical utility of genetic testing and services should take into account effects on diagnostic or therapeutic management, implications for prognosis, health and psychological benefits to patients and their relatives, and economic impact on health-care systems. We believe that clinical utility must also take into account the value a diagnosis can bring to the individual, the family, and society in general. For example, the diagnosis of a genetic disorder often provides highly significant information to family members who are at risk for such disorders. The assessment of risk to family members of individuals with genetic disorders fits poorly into current models. These define utility as either (i) clinical benefit specific to the individual receiving the service or (ii) “personal” benefit because it applies to other family members or because the result may suggest interventions that are less well defined.5,6 Such a construct frames the utility of genetic and genomic information too narrowly and fails to acknowledge that information regarding significant genetic risks can enable highly actionable—indeed, life-saving—interventions for individuals and their family members. Hence, enabling disease avoidance in individuals or families should be considered an overt medical utility rather than as a “personal” utility. As genetic and genomic information increasingly enables disease prevention and reproductive planning, a narrow focus on medical benefit only to the individual originally tested and diagnosed is apparent as a construct of an obsolete system in which care is provided only to those with overt disease and that clinical benefit can be achieved only when a therapeutic option (i.e., a drug) is available. ACMG believes that the interests and lives of family members should be an important clinical consideration in the care of patients. The challenge is in balancing the physician’s responsibilities to the patient with the important medical interests of the family.
ACMG believes there is great clinical value in arriving at a precise medical diagnosis, enabling, among other things, identification of a disorder’s cause and prognosis, as well as frequently informing preventive and treatment modalities. ACMG considers the following to be important clinical utilities related to genetic/genomic information.
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