183anyone else to live to be an alert, old person. I also grieved the time I spent not
knowing and the choices I had made based on wondering if I had HD. I began to see
the ways in which living with the threat of HD had limited my life choices and had
narrowed my view of available options. More importantly, I felt that now I could
have a life. The implications of this fact and my options were staggering! For a time,
I was overwhelmed by the fact that I was HD-free and could live my life anyway I
wanted, just like everyone else” (p. 9).
We suggest you try to minimize any preconceived notions about how patients
will react and pay close attention to observing their actual reactions. Try to avoid
value-laden introductions of test results like “I have good news for you!” Unless
you’re certain something like a normal prenatal test result is, in fact, good news,
consider that some consequences of a normal result might be difficult for the patient/
family.
What if the test results are not conclusive? This is one of the major challenges in
communicating complicated information. Variants of uncertain significance (VUS)
are a type of inconclusive test result that further complicate information provision
to patients. Many patients pursue genetic testing because they wish to reduce uncer-
tainty about the future (Semaka et al. 2013 ). Writing about VUS test results for
women at high risk for breast cancer, Frost et al. ( 2004 ) noted, “Genetic counselors
understand that results may be equivocal and [they] can convey the implications to
patients, even if...[patients do not recall] this likelihood from the pre-test counsel-
ing session. Results of uncertain significance can be frustrating to hear and must be
presented in terms of what the patient needs to understand in her own life as well as
the needs of the extended family. When results are of uncertain significance, the
family history becomes key to the risk assessment, especially with respect of medi-
cal management options for extended family members” (p. 233). They recom-
mended that counselors provide information about the possibility of all three types
of results (i.e., positive, negative, and VUS) during the pretesting session and their
potential implications for the patient and family members. Speaking about results
for a gene test for HD that reveals the patient has an intermediate allele, Semaka
et al. ( 2013 ) recommended that “genetic counselors explore patients’ feelings about
receiving a ‘grey’ result that does not provide the certainty they may desire” (p. 213),
correct misunderstandings, and provide additional information and support.
Kiedrowski et al. ( 2016 ) interviewed parents whose child had a VUS from a
chromosome microarray study (CMA). These parents “...demonstrated a range of
recall and personal interpretation regarding whether test results provided a causal
explanation for their children’s health issues. Participants maintained contradictory
interpretations, describing results as answers while maintaining that little clarifica-
tion of their child’s condition had been provided...[and they] described adaptation/
coping processes similar to those occurring after positive test results. Recall of ter-
minology, including ‘VUS’ and precise CMA abnormalities, was poor. However,
most demonstrated conceptual understanding of scientific uncertainty” (p. 101).
The researchers concluded that “...receiving a VUS result may have an impact simi-
lar to that of receiving a definitive diagnosis; it was often viewed as an ‘answer,’
albeit a more complicated one. Parents described emotional responses ranging from
7.1 Communicating Information