191options (e.g., mastectomy as a risk reduction strategy for a patient with a BRCA
mutation). In these circumstances, a genetic counselor may engage in a type of
“shared decision-making” (SDM). The term “shared decision-making” (SDM)
describes a process by which a health-care provider collaborates with a patient to
make clinical decisions (Barry and Edgman-Levitan 2012; Elwyn et al. 2000 ,
2012; Makoul and Clayman 2006). Based on a review of literature, Makoul and
Clayman (2006) proposed the following as essential elements of SDM: patient and
provider define/explain the problem that needs to be addressed; provider reviews
options and patient raises additional options of which they are aware; provider and
patient discuss the pros/cons of options as they may have different perspectives
about the relative importance of benefits, risks and cost; patient and provider dis-
cuss patient values and preferences including ideas, concerns, and outcome expec-
tations as well as provider knowledge and recommendations; and patient and
provider discuss patient ability/self-efficacy to follow through with a plan.
Throughout the process, patients and providers should both periodically check
understanding of facts and perspectives and provide clarification as needed
(pp. 305–306).
Elwyn et al. ( 2000 ) summarized the relevance of SDM to genetic counseling as
follows: “The respect for client autonomy that underlies professional enthusiasm
for SDM in primary health care is also well developed in GC [genetic counseling],
making SDM a natural approach to the negotiation of management decisions in
clinical genetics. SDM may also be applicable to negotiations about diagnostic
pathways; when investigations are being planned to establish a diagnosis then the
likely benefits to emerge may be weighed jointly by clinician and patient along with
the inconvenience, anxiety, pain, and other consequences of the diagnostic process”
(p. 137).
7.2.1 Facilitated Decision-Making
In contrast to decisions genetic counseling patients face based on medical/clinical
recommendations discussed in the previous section, many other decisions in the
context of genetic counseling require autonomous decision-making. These include
but are not limited to reproductive decisions (e.g., whether to have children, precon-
ception, and/or prenatal screening or diagnostic testing decisions, whether to con-
tinue a pregnancy following abnormal prenatal diagnosis, etc.), susceptibility or
presymptomatic testing for late-onset conditions (e.g., Huntington disease, early-
onset Alzheimer disease), and carrier testing (population screening or targeted car-
rier testing based on family history). The genetic counselor’s role in these types of
decisions is to facilitate the patient’s decision-making process. The remainder of
this chapter focuses on factors that may impact patient decision-making processes.
7.2 Decision-Making: Overview