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(or more) children, while emotional decision-making prioritized having children by
extending their preventative surgery timeline and in [doing] so gambling with their
personal HBOC risk” (p. 1309).
Chan et al. ( 2017 ) explored reproductive decision-making in women with
BRCA1/2 mutations. They found that knowledge of BRCA carrier status had an
impact on patients’ decisions regarding relationships and childbearing. “Unpartnered
women reported that knowledge of a BRCA mutation influenced their decisions
regarding marriage. Almost 40% had a greater desire to get married and 50% felt
more pressure to get married after test disclosure” (p. 598). Knowledge of BRCA
carrier status also had an impact on patients’ attitudes toward childbearing and fer-
tility treatment (e.g., having children earlier, interest in pursuing adoption, deciding
not to have children because of risk of transmission of mutation or concern that
pregnancy might increase personal risk for cancer, being more likely to consider
fertility treatments to become pregnant more quickly, interest in in vitro fertilization
and preimplantation genetic diagnosis).
Cassidy and Bove (1998) identified four themes related to parents’ decisions
about whether to seek or reject presymptomatic testing for their children who are at
risk for adult-onset genetic conditions that are treatable: (1) personal experience
with the severity of the genetic condition, (2) receipt of accurate information from
credible sources, (3) availability of treatment, and (4) risk perceptions.
Reed and Berrier ( 2017 ) identified ten distinct factors that may influence
decision- making following a prenatal diagnosis of Down syndrome (DS): “rationale
for testing, role of information, support, quality of life, effects on family, parenting
abilities and goals, personal values, pregnancy experience, age, and experience with
disability” (p. 818). The authors further noted “our results indicate that one reason
decision-making varies between patients following a DS prenatal diagnosis is that
patients assign different meanings to DS—meanings that are influenced by a
patients’ [sic] lived experience and values, his or her interpretation of information,
and the context in which a diagnosis is delivered” (p. 824).
McCarthy Veach et al. ( 2001 ) interviewed genetic counselors, physicians, and
nurses who identified three factors that pose professional challenges specific to
facilitating patient decision-making in genetic counseling:
- Lack of informed consent: patients don’t know, don’t want to know, and/or don’t
understand all the pertinent information. - Facing uncertainty: lack of test specificity and sensitivity and the reality that no
one can know all the short- and long-term outcomes. - Disagreements: with family members, cultural groups, health-care providers,
and society about what to do. There is seldom an obvious choice.
7.3 A Rational Decision-Making Model for Genetic
Counseling Patients
Because some patients will feel “blocked” in their decision-making process, it may
be helpful if you offer them an opportunity to think through their situation (Kessler
1997 ). Baty (2009) summarized several models of decision-making relevant to
7 Providing Information and Facilitating Patient Decision-Making