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    HIPAA Regulations: General Provisions: Definitions - Genetic Test - § 160.103

    As Contained in the HHS HIPAA Rules

     

    HHS Regulations as Added by the January 2013 Amendments
    General Provisions: Definitions - Genetic Test - § 160.103

     

    Genetic test means an analysis of human DNA, RNA, chromosomes, proteins, or metabolites, if the analysis detects genotypes, mutations, or chromosomal changes.

    Genetic test does not include an analysis of proteins or metabolites that is directly related to a manifested disease, disorder, or pathological condition.

     

    HHS Description and Commentary From the January 2013 Amendments
    General Provisions: Definitions - Genetic Test - § 160.103

     

    Proposed Rule

    As explained above, GINA provides that the term “genetic information” includes information about an individual’s genetic tests or the genetic tests of family members of the individual. Section 105 of GINA provides that the term “genetic test” shall have the same meaning as the term has in section 2791 of the PHSA (42 U.S.C. 300gg–91), as amended by section 102 of GINA. Section 102(a)(4) of GINA amends section 2791(d) of the PHSA to define “genetic test” to mean “an analysis of human DNA, RNA, chromosomes, proteins, or metabolites, that detects genotypes, mutations, or chromosomal changes.” GINA further clarifies that the term “genetic test” does not include an analysis of proteins or metabolites that does not detect genotypes, mutations, or chromosomal changes, nor does it include an analysis of proteins or metabolites that is directly related to a manifested disease, disorder, or pathological condition that could reasonably be detected by a health care professional with appropriate training and expertise in the field of medicine involved.

    Consistent with the statutory definition, the Department proposed to define “genetic test” at § 160.103 as an analysis of human DNA, RNA, chromosomes, proteins, or metabolites, if the analysis detects genotypes, mutations, or chromosomal changes, and to provide in the definition that “genetic test” does not include an analysis of proteins or metabolites that is directly related to a manifested disease, disorder, or pathological condition. While the statute refers to a “manifested” disease as one that could reasonably be detected by a health care professional with appropriate training and expertise in the field of medicine involved, the statute does not define “manifested.” Consequently, for clarity, the Department proposed a definition of “manifested,” as described [in another section].

    Overview of Public Comments

    The Department received one comment requesting that the Department include examples within the regulatory text of the definition and another comment stated that it is not clear what constitutes a genetic test under the definition.

    Final Rule

    The final rule adopts without modification the definition of “genetic test” as proposed in the NPRM. This definition is consistent with the definition found in the implementing regulations for sections 101-103 of GINA and with which compliance is already required by most health plans. Under this definition, a test to determine whether an individual has a gene variant associated with breast cancer (such as the BRCA1 or BRCA2 variant) is a genetic test. Similarly, a test to determine whether an individual has a genetic variant associated with hereditary nonpolyposis colorectal cancer is a genetic test. Such tests are genetic in nature because they detect genotypes, mutations, or chromosomal changes. In contrast, medical tests that do not detect genotypes, mutations, or chromosomal changes, are not genetic tests. For example, HIV tests, complete blood counts, cholesterol tests, liver function tests, or tests for the presence of alcohol or drugs are not genetic tests. Consistent with the approach taken generally with the HIPAA Privacy Rule, the Department declines to include these examples in the regulatory text.

    The Department intends to issue future guidance on its web site about this issue.