Researchers have proposed a multi-site study of somatic gene mutations to evaluate a potential link between XYZ environmental toxin and uterine cancer.
Patients undergoing surgical procedures for uterine cancer were asked to sign a separate informed consent form for research. The informed consent form used for the collection described the intended use of the tissue and data for research into uterine cancer, including possibly for genetic research, the necessity of voluntary participation, and the measures undertaken to protect individual identity. Samples and data were stored at a central repository and then sent to various medical centers for molecular analysis.
Codes were assigned to protect individual identities. Investigators at the local sites maintained access to the links, but no patient names or links to the code were sent to researchers at the various sites. In addition to tissue samples, the investigators require the following patient information: diagnosis, date of diagnosis, exposure history, and age of patient at diagnosis.57
The study has been funded by the NCI, and samples and data are to be sent as cases for molecular analysis to researchers in four states: Arizona, Alabama, New York, and Oregon.
The IRBs at each recipient institution approved the research and the informed consent forms according to the requirements of the federal regulations (45 C.F.R. 46). Nevertheless, the principal investigator is concerned about complying with state laws on genetic testing in the various states.
The state laws that impose special requirements for genetic testing are triggered when activities that fall within the definition of “genetic test” occur within a particular state, or when “genetic information” is gathered in a state with a statute imposing conditions on genetic tests. This will usually require a careful reading of the statutory language and the definitions of “genetic test,” “genetic information,” and “medical information.”
Arizona law defines genetic test as:58
“a) A test of a person’s genes, genetic sequence, gene products, or chromosomes for abnormalities or deficiencies, including carrier status, that: (i) Are linked to physical or mental disorders or impairments. (ii) Indicate a susceptibility to any illness, disease, impairment, or other disorder, whether physical or mental. (iii) Demonstrate genetic or chromosomal damage due to any environmental factor.”
Arizona explicitly carves out biomedical research from other activities by statute, stating that the definition of genetic test in the statute does not include “Tests given for use in biomedical research that is conducted to generate scientific knowledge about genes or to learn about the genetic basis of disease or for developing pharmaceutical and other treatment of disease.”
The proposed activity falls within the exemption for “biomedical research.” Thus the conditions for conducting a genetic test do not apply and the researchers in Arizona are not required to comply with any additional state law provisions.
Alabama prohibits health plans from requiring genetic tests showing predisposition to cancer or from using genetic information to determine eligibility for coverage.59 No other prohibitions on uses of genetic information apply, and the definition of genetic test used in the insurance statutes is careful to reference clinical genetic tests. Therefore, the statute does not affect researchers using biological material.
The research at this site may proceed as proposed by the investigators.
New York State has laws on medical privacy, genetic privacy, and human subject protection, making it among the more restrictive states for the conduct of research.
New York prohibits the conduct of “genetic tests” without the prior written informed consent of the individual. A genetic test is defined as:
“…. Any laboratory test of human DNA, chromosomes, genes, or gene products to diagnose the presence of a genetic variation linked to a predisposition to a genetic disease or disability in the individual or the individual’s offspring; such term shall also include DNA profile analysis. ‘Genetic test’ shall not be deemed to include any test of blood or other medically prescribed test in routine use that has been or may be hereafter found to be associated with a genetic variation, unless conducted purposely to identify such genetic variation.”60
According to the statute, prior to a genetic test, individuals must be notified, individual authorization must be obtained, and specific elements must be incorporated into the informed consent form including: a general description of each specific disease or condition tested for, the level of certainty that a positive test result for that disease or condition serves as a predictor of such disease, the name of the person or categories of persons or organizations to whom the test results may be disclosed, and a statement that no tests other than those authorized shall be performed on the biological sample.
For clinical genetic tests, the informed consent must state that the sample shall be destroyed at the end of the testing process, or not more than sixty days after the sample was taken, unless a longer period of retention is expressly authorized. New York law requires individual authorization for sample retention for up to ten years if no genetic testing is performed; however, informed consent must be obtained prior to the conduct of genetic tests. Retention of a DNA sample past a period of ten years requires explicit consent for a longer or indefinite period of retention.
Nevertheless, for research (rather than for clinical purposes), New York law provides that samples may be used without individual informed consent when IRB approval of the research protocol is given, as long as the identity of the individual has been removed, the results are not linked to the person, and no information relating to the identity of the individual is disclosed.
Therefore, for the purposes of compliance with the New York law on “Confidentiality of Records of Genetic Tests,” the samples and data may be used as proposed, as long as IRB approval is obtained, and the information regarding individual identities is protected.
New York State has a separate statute governing the conduct of human subjects research by all researchers—public and private—in the state of New York.61 The law extends the requirements of the federal regulations for informed consent (the elements are identified) and review by a human research review committee for all human subjects research. The law explicitly references use of tissue in research and exempts research using excess surgical and diagnostic tissue as follows:
“Human research shall not, however, be construed to mean the conduct of biological studies exclusively utilizing tissue or fluids after their removal or withdrawal from a human subject in the course of standard medical practice, or to include epidemiological investigations.”
Since the samples were collected during surgical procedures, the human subjects law should not prevent the conduct of the study.
Oregon has strict laws protecting the confidentiality of the patient’s medical records,62 and requires specific conditions for the use and disclosure of genetic information.
Oregon’s Privacy Act requires stringent consent for use of tissue samples and data, and includes language describing the uniquely private and personal nature of genetic information to individuals and to their family members. The Act defines a genetic test expansively as: “a test for determining the presence or absence of genetic characteristics in an individual or the individual’s blood relatives, including tests of nucleic acids such as DNA, RNA, and mitochondrial DNA; chromosomes; or proteins in order to diagnose or determine a genetic characteristic.”63
The proposed analysis of tissue and data falls within the definition of genetic test and might be subject to the limits on use, disclosure, and redisclosure. However, Oregon law provides a research exception permitting use of genetic information without individual informed consent for “anonymous research.”64 This may occur if the individual was notified the sample or genetic information may be used for anonymous research, but not if the individual, after being notified of the intended use, requested that the sample not be used for anonymous research.
Oregon researchers must maintain the confidentiality of the information or sample and protect the information or sample from unauthorized disclosure or misuse.