1797.1.3 Communicating Test Results
One aspect of providing information is communicating test results. As a genetic
counselor, one of the most difficult responsibilities you will have is informing
patients their test results are positive (not normal), indicating that they or their
unborn child or family member has, or is at increased risk for, a genetic condition.
This news has a tremendous impact on patients, and they may respond in a number
of ways (crying, “shutting down,” getting angry at you, etc.). Patients who test posi-
tive may feel an additional burden of worry and guilt about passing the condition to
their children (Bottorff et al. 1998 ). Further complicating matters, learning they are
gene positive may affect patients differently, both immediately and in the long term.
For example, Hagberg et al. ( 2011 ) found that knowing one was gene positive for
Huntington disease had both positive and negative effects. The most prevalent posi-
tive effects were “greater appreciation for life” and “drawing family members
closer,” while the most common negative effects were “decisional regret” and
decreased “psychological well-being” (p. 70); decreased well-being included dis-
tress, anxiety, and loss of hope. The researchers concluded that knowing one’s posi-
tive gene status “can either be a motivator or an obstacle to invest in one’s self”
(p. 78).
It may be helpful to prepare people to receive results prior to testing by discuss-
ing all possible test outcomes (Semaka et al. 2013 ) and by carefully exploring
patients’ “best guesses” of how positive results, negative results, and variants of
uncertain significance may affect different short-term and long-term aspects of
their life. Specific questions about major domains of functioning may help them to
more concretely consider the impact of testing. For example, you might ask how
test results could potentially impact future living arrangements, retirement plans,
reproductive actions, job or career choices, and decisions about a spouse/life
partner.
Positive test results may also have intense emotional effects on the genetic
counselor. For example, your empathy for patients makes you, to some extent,
feel what they are feeling. You like your patients and don’t want bad things to
happen to them. You may feel responsible for the positive test result. You may feel
guilty for being relieved that it’s happening to them and not to you. You have to
allow yourself to experience these unpleasant emotions to a certain extent.
Communicating positive results should never become routine. Your effectiveness
as a genetic counselor depends in part on your ability to remain connected to your
patients. At the same time, you need to balance this connection with a healthy
distance from their situations (see Chap. 12 —countertransference and compas-
sion fatigue).