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strong feelings of guilt, sadness, and a sense of loss. Others described an evolution
in their responses to that of comfort and relief. Some parents reported positive cop-
ing through engagement with support groups or advocacy activities. Others dis-
cussed that the test results empowered them to seek out medical, educational,
therapeutic, and financial services” (p. 108).
Kiedrowski et al. ( 2016 ) also stressed the importance of remembering that
“Uncertainty itself can have emotional consequences; [e.g.,] parental anxiety,
depression, and/or helplessness [and lead to] negative coping such as pessimism,
hopelessness, and feelings of failure” (p. 109). They speculated that “in many ways,
parental reactions to receiving a VUS are even more complex and have the potential
to be more emotionally charged with feelings of loss of control” (p. 109). The
authors suggested that when a VUS result occurs “...genetics professionals empha-
size the importance of a follow-up genetics evaluation to allow for a review of avail-
able databases, the literature, and a re-evaluation of the patient. Otherwise, families
may be lost to follow-up and miss updated information that could impact their
child’s health care” (p. 110).
In summary, communicating test results can be challenging. We described sev-
eral strategies a genetic counselor can use when communicating test results. As with
other aspects of genetic counseling, skills such as careful attending, empathy, and
strategic use of questions are critical to effective communication.
7.1.6 Communicating Risk Information
“It is clear that individuals do not act on the basis of the ‘actual’ risk presented to them but
act on the basis of their perception of the risk....” (O’Doherty and Suthers 2007 , p. 410).
Risk information is one of the most complicated types of information you can
present during genetic counseling. The term “risk” is defined differently by different
individuals, and people vary markedly in their perceptions of the relevance and
meaning of risk data for themselves and others. The perception of risk “involves
more than subjective numeric probability alone...and [it] is an important contribu-
tor to, but not the sole contributor to decision-making” (Austin 2010 , p. 232).
Relatedly, patients “...find risk difficult to accurately quantify, with a tendency
to overestimate. Rather than being a stand-alone concept, risk is something lived
and experienced and the process of constructing risk is complex and influenced by
many factors” (Sivell et al. 2008 , p. 30). “The process by which individuals con-
struct their risk is complex, influenced by many factors including environmental
factors, occupation, diet, stress and worry, physical resemblance to an affected
relative, as well as genetic or family history factors. Individuals use their frame-
work for understanding risk to aid coping with a risk, which is something that they
live with and experience as opposed to being a detached concept” (Sivell et al.
2008 , p. 56).
Bylund et al. ( 2012 ) noted that “Although counseling sessions do significantly
impact individuals’ general knowledge of genetics, influencing their personal risk
7 Providing Information and Facilitating Patient Decision-Making