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

    As Contained in the HHS HIPAA Rules

     

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

     

    Genetic information means:

    (1) Subject to paragraphs (2) and (3) of this definition, with respect to an individual, information about:

    (i) The individual's genetic tests;

    (ii) The genetic tests of family members of the individual;

    (iii) The manifestation of a disease or disorder in family members of such individual; or

    (iv) Any request for, or receipt of, genetic services, or participation in clinical research which includes genetic services, by the individual or any family member of the individual.

    (2) Any reference in this subchapter to genetic information concerning an individual or family member of an individual shall include the genetic information of:

    (i) A fetus carried by the individual or family member who is a pregnant woman; and

    (ii) Any embryo legally held by an individual or family member utilizing an assisted reproductive technology.

    (3) Genetic information excludes information about the sex or age of any individual.

     

    HHS Description and Commentary From the January 2013 Amendments
    General Provisions: Definitions - Genetic Information

     

    Proposed Rule

    The term “genetic information” is defined in GINA and establishes what information is protected by the statute. Section 105 of GINA provides that the term “genetic information” in section 105 shall have the same meaning given the term 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 defines “genetic information” to mean, with respect to any individual, information about: (1) such individual’s genetic tests; (2) the genetic tests of family members of such individual; and (3) the manifestation of a disease or disorder in family members of such individual (i.e., family medical history).

    GINA also provides that the term “genetic information” includes, with respect to any individual, any request for, or receipt of, genetic services, or participation in clinical research which includes genetic services, by such individual or family member of such individual. GINA expressly provides that the term “genetic information” shall not include information about the sex or age of any individual. This basic definition of “genetic information” in section 102(a)(4) of GINA (and that is to apply for purposes of section 105) is also expanded by section 102(a)(3), which provides that any reference to genetic information concerning an individual or family member in the PHSA shall include: with respect to an individual or family member of an individual who is a pregnant woman, the genetic information of any fetus carried by such pregnant woman; and with respect to an individual or family member utilizing an assisted reproductive technology, the genetic information of any embryo legally held by the individual or family member. The Department proposed to include this statutory definition of “genetic information” in § 160.103.

    Overview of Public Comments

    Most commenters did not address the proposed definition of “genetic information” in their comments on the proposed rule. However, one commenter stated that it was unclear what information may fall within the scope of the term “genetic information” and whether such term may be construed to include traditional medical information or medical tests used in underwriting today.

    Final Rule

    The final rule adopts without modification the definition of “genetic information” 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. The term “genetic information” includes information about the genetic tests of the individual or of the individual’s family members and about diseases or disorders manifested in an individual’s family members (i.e., family health history). Thus, information about manifested diseases, disorders, or conditions of the individual or medical tests that do not meet the rule’s definition of “genetic test,” such as HIV tests, complete blood counts, cholesterol or liver function tests, or tests to detect for the presence of alcohol or drugs, are not genetic information, and such information may be used or disclosed for underwriting purposes. Conversely, family health histories and information about genetic tests, such as tests to determine whether an individual or family member has a gene variant associated with breast cancer, are genetic information, and such information may not be used or disclosed for underwriting purposes. The definitions of “manifestation or manifested” and “genetic test” are discussed more fully [in a subsequent section].