Genetic Testing Policies

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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 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.
Many states have adopted laws to prevent the use of genetic information in employment or insurance situations. Some states have also adopted laws relating to informed consent to ensure that patients who receive germline genetic testing (a germline mutation is a heritable variation in the DNA that is present in all cells, including the gametes, eggs and sperm; germline mutations can be transmitted to the next generation) understand the benefits and risks. For example, Massachusetts prohibits laboratories from performing germline genetic testing 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 laws 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 germline genetic testing.  Medical practitioners who order this type of 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.  The informed consent components below are specific to Massachusetts; medical practitioners will need to comply with any informed consent requirements in the states in which they practice.
General Laws of Massachusetts Chapter 111, Section 70G 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 each specific disease or condition tested for; and
  • The person or persons to whom the test results may be disclosed.
Informed consent is most effective when it is part of a bilateral process involving a dialogue of questions and answers between a patient and his/her medical practitioner.
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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 germline genetic testing 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." This statement, which Athena refers to as a physician attestation of informed consent (PAIC), can be provided as noted below.
To expedite the PAIC requirement, Athena, which is a Quest Diagnostics company, has implemented the following process:
  1. When Athena Diagnostics receives a request for genetic testing, we review the test order to determine whether we have received the PAIC in any one of the following forms:
    1. the medical practitioner has a blanket PAIC on file with Quest Diagnostics (which covers any germline genetic test orders submitted to Athena or any other Quest Diagnostics laboratory from the date of the blanket PAIC forward).  A blanket PAIC can be downloaded from or electronically completed at Quest Diagnostics’ website as follows:
      Informed Consent Compliance for Germline Genetic Testing
      or
    2. the medical practitioner has signed the PAIC on the test order itself
      or
    3. the medical practitioner has provided an individual PAIC accompanying the test order (which relates only to the test(s) on the test order) in the following form:
      Individual Physician Attestation of Informed Consent for Germline Genetic Testing  
       
  2. If PAIC has not been obtained, Athena will follow the testing and reporting process described below:
    1. Critical germline genetic testing – Athena will process and test the sample, and issue results to the medical practitioner.  We will follow-up with the medical practitioner to obtain PAIC. 
    2. Non-critical germline genetic testing – Athena will process and test the sample; however, test results will not be released until PAIC is obtained from the medical practitioner.  
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For the convenience of its clients, Athena makes available a Patient Informed Consent Form for Genetic Testing that physicians may use to obtain informed consent from their patients. 

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Additional Resources

The following links provide additional information on the topic of informed consent.
State Resources: Professional Resources: References:
General Laws of Massachusetts Chapter 111, Section 70G.
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