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    HIPAA Regulations: General Provisions: Definitions: Manifestation or Manifested -- § 160.103

    As Contained in the HHS HIPAA Rules

     

    HHS Regulations as Added by the January 2013 Amendments
    General Provisions: Definitions - Manifestation or Manifested- § 160.103

     

    Manifestation or manifested means, with respect to a disease, disorder, or pathological condition, that an individual has been or could reasonably be diagnosed with the disease, disorder, or pathological condition by a health care professional with appropriate training and expertise in the field of medicine involved. For purposes of this subchapter, a disease, disorder, or pathological condition is not manifested if the diagnosis is based principally on genetic information.

     

    HHS Description and Commentary From the January 2013 Amendments
    General Provisions: Definitions - Manifestation or Manifested - § 160.103

     

    Proposed Rule

    Although not separately defined by GINA, the terms “manifestation” or “manifested” are used in GINA in three important contexts. First, GINA uses the term “manifestation” to incorporate “family medical history” into the definition of “genetic information” by stating that “genetic information” includes, with respect to an individual, the manifestation of a disease or disorder in family members of such individual. Second, GINA uses the term “manifested” to exclude from the definition of “genetic test” those tests that analyze a physical malady rather than genetic makeup by excluding from the definition analyses of proteins or metabolites that are directly related to a manifested disease, disorder, or pathological condition. Third, GINA uses the term “manifestation” to clarify that nothing in Title I of GINA should be construed to limit the ability of a health plan to adjust premiums or contribution amounts for a group health plan based on the manifestation of a disease or disorder of an individual enrolled in the plan.

    However, GINA provides that, in such case, the manifestation of a disease or disorder in one individual cannot also be used as genetic information about other group members and to further increase the premium for the plan. Similarly, for the individual health insurance market, GINA clarifies that it does not prohibit a health plan from establishing rules for eligibility for an individual to enroll in coverage or from adjusting premium or contribution amounts for an individual based on the manifestation of a disease or disorder in that individual or in a family member of such individual where such family member is covered under the individual’s policy. However, under GINA, the manifestation of a disease or disorder in one individual cannot also be used as genetic information about other individuals and to further increase premiums or contribution amounts.

    Given the importance of the term “manifested” or “manifestation,” the Department proposed to define the term. Although GINA does not define the term, it is clear from the statutory definition of “genetic test” that a manifested disease or disorder is one “that could reasonably be detected by a health care professional with appropriate training and expertise in the field of medicine involved.”

    Accordingly, the proposed rule defined the term “manifestation or manifested” to mean, with respect to a disease, disorder, or pathological condition, that an individual has been or could reasonably be diagnosed with the disease, disorder, or pathological condition by a health care professional with appropriate training and expertise in the field of medicine involved.

    The proposed definition also provided that a disease, disorder, or pathological condition is not manifested if the diagnosis is based principally on genetic information. This clarification was included due to the fact that variants of genes associated with diseases have varying degrees of predictive power for later development of the disease. In some cases, an individual may have a genetic variant for a disease and yet never develop the disease. In other cases, the presence of a genetic variant indicates that the individual will eventually develop the disease, such as is the case with Huntington’s disease. However, an individual may obtain a positive test that shows the genetic variant for Huntington’s disease decades before any clinical symptoms appear. Under the proposed definition, the presence of a genetic variant alone would not constitute the diagnosis of a disease even in cases where it is certain the individual possessing the genetic variant will eventually develop the disease, such as with Huntington’s disease.

    Overview of Public Comments

    A few commenters expressed support for adopting the proposed definition of “manifestation or manifested” because it would provide clarity to the rule and the scope of the underwriting prohibition. One commenter requested that the Department include the examples provided in the preamble to the proposed rule directly within the regulatory definition. A few commenters raised concerns about the inclusion in the proposed definition of the clarification that “a disease, disorder, or pathological condition is not manifested if the diagnosis is based principally on genetic information.” It was argued that the proposed definition was too narrow because, for some diseases, disorders, or pathological conditions, a genetic test is the primary means of diagnosing the condition and further that genetic tests will more frequently be used to diagnose diseases or conditions in the future given the continuing evolution of genetics. It was also argued that the proposed definition went beyond GINA by indicating how a manifested disease or disorder is diagnosed.

    Final Rule

    The final rule adopts without modification the definition of “manifestation or manifested” proposed in the NPRM. The definition is consistent with the definition of “manifestation or manifested” found in the implementing regulations for the nondiscrimination provisions of sections 101-103 of GINA and with which compliance is already required for most health plans. In developing this definition, the agencies consulted with technical experts at the National Human Genome Research Institute within the National Institutes of Health (NIH). In addition, for the reasons stated above regarding the varying degrees of predictive power genes provide in terms of ultimate development of a disease, as well as of the fact that a genetic test for a disease may precede clinical signs or symptoms by years or even decades, the Department does not believe that the definition is too narrow but rather that it is consistent with the provisions of GINA that protect genetic information from being used for health coverage determinations. Finally, the definition does not preclude a health care provider from performing one or more genetic tests to confirm a diagnosis so long as the diagnosis is not based solely or principally on the result of the genetic test.

    To illustrate the definition, we provide the following examples, which were also included in the NPRM:

    • An individual may have a family member that has been diagnosed with Huntington’s disease and also have a genetic test result that indicates the presence of the Huntington’s disease gene variant in the individual. However, when the individual is examined by a neurologist (a physician with appropriate training and expertise for diagnosing Huntington’s disease) because the individual has begun to suffer from occasional moodiness and disorientation (symptoms which are associated with Huntington’s disease), and the results of the examination do not support a diagnosis of Huntington’s disease, then Huntington’s disease is not manifested with respect to the individual. In contrast, if the individual exhibits additional neurological and behavioral symptoms, and the results of the examination support a diagnosis of Huntington’s disease by the neurologist, then Huntington’s disease is manifested with respect to the individual.
    • An individual has had several family members with colon cancer, one of whom underwent genetic testing which detected a mutation in the MSH2 gene associated with hereditary nonpolyposis colorectal cancer (HNPCC). On the recommendation of his physician (a health care professional with appropriate training and expertise in the field of medicine involved), the individual undergoes a targeted genetic test to look for the specific mutation found in the family member of the individual to determine if the individual himself is at increased risk for cancer. The genetic test shows that the individual also carries the mutation but the individual’s colonoscopy indicates no signs of disease and the individual has no symptoms. Because the individual has no signs or symptoms of colorectal cancer that could be used by the individual’s physician to diagnose the cancer, HNPCC is not a manifested disease with respect to the individual. In contrast, if the individual undergoes a colonoscopy or other medical tests that indicate the presence of HNPCC, and the individual’s physician makes a diagnosis of HNPCC, HNPCC is a manifested disease with respect to the individual.
    • If a health care professional with appropriate expertise makes a diagnosis based on the symptoms of the patient, and uses genetic tests to confirm the diagnosis, the disease will be considered manifested, despite the use of genetic information. For example, if a neurologist sees a patient with uncontrolled movements, a loss of intellectual faculties, and emotional disturbances, and the neurologist suspects the presence of Huntington’s disease, the neurologist may confirm the diagnosis with a genetic test. While genetic information is used as part of the diagnosis, the genetic information is not the sole or principal basis for the diagnosis, and, therefore, the Huntington’s disease would be considered a manifested disease of the patient.

    As with the definition of “genetic test,” the Department declines to include these examples in the regulatory text as this is inconsistent with the approach generally taken in the HIPAA Privacy Rule. The Department intends to issue future guidance on its web site with respect to the Rule’s protections for genetic information.