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- Follow up with your patients at a later time. Check in to see how they are feeling,
what they are thinking, and how much information they have retained. You might
need to fill in some gaps. Do not leave it to patients to call you if they have ques-
tions. It is unlikely they will do so. - Referral to counseling/psychotherapy may be appropriate if a patient has an
extreme emotional reaction and/or appears to have limited coping skills.
Inconclusive Test Results 7.1.5 Strategies for Communicating Negative or
Test Results
What if the test results are negative (normal)? When reflecting about communicat-
ing negative test results, your first thought might be that it’s a simple and happy task.
On closer consideration, however, you’ll find it can be quite challenging. Some
patients may not fully understand the meaning of a negative test result (cf. Semaka
et al. 2013 ). So, it is important to talk carefully and repeatedly about the limitations
of a test. For example, you might say, “Your prenatal tests are all normal. This
means that your baby does not have any of the conditions we were able to look for,
but remember we talked about some of the limitations of the test. As you know, the
test cannot find all conditions”; or, “You didn’t inherit the change in the gene
responsible for breast cancer that your mother has. But you still need to have regular
checkups because you are at the same risk for breast cancer as any other woman in
the general population.”
You may need to review complex implications of negative test results. For exam-
ple, Semaka et al. ( 2013 ) found that patients with negative results for HD but with
an intermediate allele (IA) did not understand there was a risk of their descendants
developing the condition. They noted, “Many participants had difficulty ‘grasping
the grey,’ (i.e., understanding and interpreting their IA results) and their family
experience, beliefs, expectations, and genetic counseling influenced the degree of
this struggle” (p. 200). Also, you must be sensitive to patients’ frustration that a
diagnosis is not evident from testing.
Many, but not all, patients will feel relieved and happy about a negative test
result. They may also have complex, mixed emotional responses that emerge over a
period of time. For instance, a patient whose test for Huntington disease is negative
may feel guilty about her siblings who carry the gene, fear rejection by the affected
family members, believe she’s lost the reason for having a close relationship with
her siblings (i.e., the risk for HD), and be depressed about waiting as long as she did
to have the testing done. She may also feel overwhelmed by the realization that she
will be the primary caregiver for affected family members.
Gray et al. ( 2000 ) describe how one of the authors lived for years with the pos-
sibility of having the gene for Huntington disease (HD). Once she finally pursued
testing, which yielded negative results, her reactions were as follows: “I did not
have Huntington’s, but for the last 34 years I had lived in the shadow of the disease,
and it took a long time to sink in that I was ‘normal’—I had the same chance as
7 Providing Information and Facilitating Patient Decision-Making