Prevention for those who can pay: insurance reimbursement of genetic-based preventive interventions in the liminal state between health and disease

摘要

The landscape of genetic and genomic testing is complex and this paper is focused on a specific type of testing in a specific population, therefore this section will define these key categories used throughout the paper. This paper discusses both genetic and genomic technologies. Genetics is the study of individual genes and their effect on diseases, such as Huntington's disease or cystic fibrosis. Genomics, a broader concept, is the study of an individual's entire genome and the examination of how different genes and the environment interact together. The paper specifically focuses on predictive genetic testing, rather than diagnostic, carrier status, or other genetic testing. Also, the paper is more narrowly concerned with predictive testing only for medically actionable conditions, those for which there are recommended medical interventions that aim to prevent the condition. While there may be medical interventions in pediatric or prenatal settings, the scope of the paper will focus on adult onset conditions. Any use of genetic testing in the paper refers to predictive testing for medically actionable adult onset disease, unless otherwise indicated. The current model of insurance coverage in the US favors payment for treatment of diseases that have already developed over coverage for preventive services. Only a fraction of healthcare expenditures are spent on prevention,1 thus financially incentivizing clinicians to also focus on sickness rather than prevention.2 In this vein, the standard of care has incorporated genetics and genomics technologies when they generally relate to personalized treatment for diagnosed diseases, pharmocogenetics, or diagnostic inquiries, but their use for prevention has not yet widely become standard of care.3Historically, Medicare has had only limited coverage for preventive services. Yet, because it is the largest healthcare reimbursement system in the US, many private insurers look to Medicare for guidance on reimbursement policies and cost.14 Medicare only covers services that are ‘reasonable and necessary for the diagnosis or treatment of illness or injury',15 but the law does not specify what rises to the level of ‘reasonable and necessary'.16 Genetic testing done in an asymptomatic individual for preventive purposes flies directly in the face of Medicare's rules because the system explicitly excludes coverage for tests for screening purposes ‘that are performed in the absence of signs, symptoms, complaints, or personal history of disease or injury', unless there is specific statutory authorization.17Medicaid, a health insurance program for low-income Americans, is funded by both federal and state governments and is managed by the states. This state level management leads to variation in coverage levels across the nation. Most states cover genetic testing of some kind, although the number and type of test vary.23 Several states take into consideration whether the genetic test is used for the purpose of diagnosis, although, unlike Medicare, there is no universal ban against coverage for tests on asymptomatic individuals. Medicaid coverage for genetic tests can vary, not just geographically, but also temporally, depending on fluctuations in state Medicaid funding.24 Genetic testing that identifies mutations in BRCA 1 and BRCA 2, genes associated with an increased risk of breast and ovarian cancer, are two of the more widely covered genetic tests for adults in Medicaid. Thirty-two states offer reimbursement for testing, although the specific criteria for coverage can vary, and may not provide coverage for asymptomatic individuals.25Private health insurance companies in the US vary in the number and kind of genetic tests that they cover. Information on coverage for genetic testing is elusive because not all companies provide publicly available coverage determinations and distinct health insurance policies offered by a company may have different criteria than any broad policy guidelines indicate.26The variable insurance coverage for genetic tests creates a cascade of ad hoc coverage decisions for recommended interventions after individuals have been tested—creating an equally variable system of coverage for interventions. The remainder of this paper will not concentrate on the issue of barriers to genetic testing coverage, but will focus on what the reimbursement policies are, and should be, after those genetic tests are covered. As discussed above, the line between prevention and treatment has been consistently pushed earlier and earlier in the manifestation of a disease.43 The current system of insurance coverage, ignoring susceptibility and asymptomatic states of illness, incentivizes this movement. Take, for example, the development of hemochromatosis—a hereditary condition that causes excess iron to accumulate in the body.44 An