Genetic Testing Policy
Introduction: Genetic Testing and Informed Consent
Genetic testing offers many exciting opportunities to help physicians understand, characterize and manage disease. Currently, genetic testing can confirm a suspected diagnosis, rule-out disorders on a differential diagnosis, predict the occurrence of future disease in a healthy individual, and assist couples with family planning. The future holds promise that genetic technology will assist physicians with both the diagnosis and treatment of disease through pharmacogenetics (drugs tailored to an individual's genetic profile) and gene therapy.
As the benefits of genetic testing become evident and as testing becomes adopted as a routine part of medical care, it is important that physicians receive the information they need to help guide their patients. Physicians will benefit from an understanding of how and when to use genetic testing, as well as how to communicate this information to their patients in order to ensure that they can make informed decisions. Because genetic diagnoses can go beyond delivering a diagnosis to a symptomatic individual, to actually "predicting" if a healthy individual is likely to develop symptoms in the future, these diagnoses must be treated with great care. Issues to consider include both ensuring privacy so that genetic analyses are not improperly used (e.g., genetic discrimination), helping individuals make informed, personal decisions about the benefits and risks of genetic testing, and complying with applicable state and federal statutes as they develop.
Many states have adopted or are adopting legislation to prevent the use of genetic information in employment or insurance situations. Also in development are regulations surrounding informed consent to ensure that patients who receive predictive genetic testing (i.e., testing for disorders for which one does not yet have symptoms) understand the benefits and risks of this information. For example, Massachusetts prohibits laboratories from performing genetic testing on presymptomatic individuals unless the ordering medical practitioner provides a signed statement warranting that they have obtained that patient's prior written consent.1 (See below for more information on what comprises prior written consent.)
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Principal Components of Informed Consent
State and local regulations vary with regard to the required content of informed consent. However, several components of informed consent are generally considered important across most standards. For example, Massachusetts requires a medical practitioner obtain prior written consent for genetic testing that is not "for the purpose of diagnosing or detecting an existing disease, illness, impairment or disorder."2 Medical practitioners who order this type of testing, sometimes known as predictive or asymptomatic genetic testing, should be certain to obtain the patient's written informed consent prior to initiating testing. We provide the components of the Massachusetts informed consent below and provide links to websites that also discuss the elements of informed consent.
Massachusetts Ann. Laws ch. 111 section 70G (2000) defines appropriate prior written consent as including the following:1
- A statement of the purpose of the test.
- A statement that prior to signing the consent form, the consenting person discussed with the medical practitioner ordering the test the reliability of positive or negative test results and the level of certainly that a positive test result for that disease or condition serves as a predictor of such disease.
- A statement that the consenting person was informed about the availability and importance of genetic counseling and provided with written information identifying a genetic counselor or medical geneticist from whom the consenting person might obtain such counseling.
- A general description of the disease(s) or condition(s) to be tested for.
- A statement as to the person or person who may receive the results of the test(s).
Informed consent is most effective when it is part of a bilateral process involving a dialog of questions and answers between a patient and his/her medical practitioner. This dialog is an important and potentially challenging process, as it requires the medical practitioner to gauge the appropriate level of language and technical detail suitable for the patient's understanding.
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Athena Diagnostics' Approach to Informed Consent
In order to comply with the Massachusetts law, Athena must ensure that any sample received for genetic testing is either for the purpose of diagnosing or detecting an existing disease, illness, impairment or disorder or, if it is not for such purpose, that it is accompanied by a "signed statement of the medical practitioner ordering the test warranting that the appropriate prior written consent has been obtained from the patient."1
To expedite this requirement, Athena implemented the following process:
- When Athena Diagnostics receives a request for genetic testing, we review the request to determine (1) whether informed consent is required and (2) if so, whether such consent has been obtained.
- For example, under Massachusetts law, Athena must ensure that any sample received for genetic testing is either (a) for the purpose of diagnosing or detecting an existing disease, illness, impairment or disorder or, (b) if it is not for such purpose, that it is accompanied by a "signed statement of the medical practitioner ordering the test warranting that the appropriate prior written consent has been obtained from the patient."1
- If Athena's current requisition form is used, a medical practitioner can indicate that a patient's status is diagnostic/symptomatic by checking the box "Diagnostic (symptomatic)" under the section "Indication for Testing". If this box is checked, the order will be processed without delay. Alternatively, a medical practitioner can sign under the section "Testing Authorization and ICD-9 Code." If this section is signed, the order will be processed without delay.
If the indication for testing is predictive (asymptomatic) then the medical practitioner must sign under the section "Testing Authorization and ICD-9 Code" in order to indicate that the prior written consent was obtained. Orders received on requisitions with the medical practitioner's signature in this section will be processed without delay. - If it is determined that informed consent is required and has not been obtained, Athena will immediately issue a Partial Inconclusive Result Report containing the "Medical Practitioner's Authorization to Perform Genetic Testing." This interim report will acknowledge that the specimen has been received and advise the sending laboratory or physician that technical results cannot be issued until the "Medical Practitioner's Authorization to Perform Genetic Testing" has been completed and returned to Athena. If we do not receive the requested authorization in due course, we will issue a Final Inconclusive Result Report due to insufficient documentation along with the associated billing and a further request to submit the authorization. We will attempt additional follow up by other means to obtain the authorization. Once received, we will gladly complete the testing and issue the technical results at no additional charge.
- Our certification document is available at: "Medical Practitioner's Authorization to Perform Genetic Testing"
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Additional Resources
The following links provide additional information on the topic of informed consent.
Local/State Resources:
Professional Resources:
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1 Massachusetts Ann. Laws ch. 111 section 70G (2000))
2 Ibid.
