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How to Communicate About Genetic Testing and Genetic Test Results ?

M3 India Newsdesk Oct 04, 2017

The American Congress of Obstetricians and Gynecologists (ACOG), in April 2017, had published its opinion on genetic testing and counseling.










With the increasing availability of genetic testing,  it is critical for the practicing health care provider to have a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test. The doctor's ability and skills about appropriate pretest and posttest counseling are also known to make a difference. This article throws light on various complex issues associated with genetic testing and counseling as given by the ACOG.

Importance of Genetic Testing

Genetic testing is gaining attention and increased importance due to increased patient awareness and the wide scope of information that it can render. Based on the clinical findings in genetic testing, genetically tailored treatment is made possible. Though there have been prenatal screening and prenatal diagnostic tests being used for newborns from several decades, newborn screening test are newly being introduced as they have the potential to provide information that may not be obtained with the other diagnostic procedures. Similarly, in gynecology practice, for patients having a family history of cancer or a single-gene disorder, a genetic test for susceptibility provides the benefit of taking preventive measures early in life. Early interventions and lifesaving treatment can be possible for the patients as well as their families.



  • Before performing any type of genetic test, pre-test counseling should be provided to all the patients. It should include information regarding the potential results, risks and benefits and limitations pertaining to the test. After counseling, patient should have a clear understanding of the test.
  • Patients should be allowed sufficient time to understand information, to make informed decisions regarding testing and for further evaluation or treatment. Pre-test and post-test counseling should be done in a clear, objective and non-directive manner.
  • Pre-test counseling should include complete information regarding the potential results, involved risks, limitations, and benefits of genetic testing. Expectations regarding the outcome of genetic test should be discussed with the patient prior to conducting the test. After counseling, patient should voluntarily decide to take up the test or decline it.
  • Practitioners should determine and decide on the tests that they would offer as standard tests in their practice, so that uniformity in testing is maintained for all the patients.
  • Results of the test should be communicated in a timely manner, in order to optimize options for evaluation and medical care.
  • Information regarding effect on genetic testing on insurance premiums, eligibility for life and long-term care insurance should be communicated to the patient.
  • When patient is diagnosed with clinically significant mutations having heritable potential, the patient should be strongly encouraged to share the test results with his family members.
  • If a practitioner does not have the required expertise or knowledge in genetics to counsel a patient appropriately, the patient should be referred to a genetic counselor, medical or gynecologic oncologist, maternal-fetal medicine specialist, or other genetic specialist, as appropriate.


Post-test Considerations

  1. The timeliness, method, and communication of results should be appropriate to the type of testing being performed. Delays in disclosure of result or any other communication may limit the diagnosis and management options.
  2. The results of the test should be communicated clearly, objectively, and in a non-directive manner, regardless of the mode of communication, i.e. whether it is communicated over telephone or in person.
  3. The significance of the test result, description of the diagnosis, and its prognosis and the options for further evaluation and management should be discussed.
  4. The patient should be provided with additional resources like related websites and publications to acquire more information regarding the tested condition.
  5. In case of prenatal testing, all reproductive management options, such as, termination of pregnancy, adoption, neonatal palliative care, prenatal surgery, etc, should be discussed as appropriate.

Thorough counseling on the significance of the results is required based on the patient’s risk status. For example, disclosure of cancer susceptibility may have a negative psychological effect on the patient, especially those who have limited support system and coping mechanism. Measures should be taken to alleviate patient anxiety.

Counseling is essential for patients of high-risk family especially when the testing result is negative, making it clear that the negative test result does not eliminate susceptibility to that particular condition.

Discussing Potential Risks


  1. In case of non-paternity testing, the implications of the testing should be discussed only with the patient, in the absence of her partner, so that she can fully consider her options if there is a chance of non-paternity.
  2. Genetic testing poses a risk of revealing parental consanguinity. The same should be disclosed to the patients before initiating a test. Clinicians are encouraged to discuss reporting requirements with qualified legal professionals in case of pregnancy of a minor with suspected consanguinity.
  3. Genetic test carry potential medical, psychosocial, and psychological effect on the patient and the patient’s family members. Even in case of results being negative, patients may experience “survivor guilt” or change in family dynamics.
  4. The ethical principles of autonomy, beneficence, and non-maleficence mandates that the unique circumstance of each patient should be considered before performing any test.
  5. Patient consent has to be obtained before testing, even if the testing can be performed on a routine blood sample.


Reference: Counseling About Genetic Testing and Communication of Genetic Test Results


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