Facilitating the Genetic Counseling Process Practice-Based Skills, Second Edition

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Activity 4: Communicating Risk Data (Dyads or Small Group Discussion)


Using the risk data for the following genetic conditions, students write out how they
would communicate this information to a patient using Hallowell et al.’s ( 1997 ) five
quantitative formats:



  • Sickle cell anemia: Pregnant woman is a carrier. Partner has not been tested.
    Carrier risk is 1/10 for African American population. Explain partner’s risk for
    being a carrier, and then explain risk for having an affected child.

  • Neural tube defects: Couple’s first child has an open neural tube defect. They want to
    know the chance of having another affected child. Empiric recurrence risk is 3–5%.

  • Abnormal first trimester screen: 32-year-old pregnant patient has an abnormal
    screening test. Lab report indicates a 1 in 50 risk for Down syndrome.

  • Newborn diagnosed with PKU: Parents are Caucasian and this is their first preg-
    nancy. Incidence of PKU in USA Caucasian population is 1/10,000. Explain
    incidence and recurrence risk.

  • Fetal abnormality: A couple is seen for genetic counseling because their first
    child had a hypoplastic left heart diagnosed on prenatal ultrasound. Parents are
    concerned about the recurrence risk. General population incidence: 1/4300. Risk
    for recurrence if one affected child: 2% to 25%.

  • Cystic fibrosis (CF): A Caucasian couple with no family history of CF requests
    testing. Explain their chance of having a child with CF prior to testing. [Population
    carrier risk (Caucasian) is 1/25.]

  • Same couple as in previous example: Wife is tested and is found to be a carrier
    of the F508 CF gene mutation. Explain how this changes this couple’s chance of
    having a child with CF.


Process
The whole group discusses their responses.
Estimated time: 50–60 min.


Instructor Note



  • After writing down their responses, students could role-play actually giving the
    information to patients.


Activity 5: Anticipating Patient Information Needs (Dyads or Small Group
Discussion)


Students brainstorm all of the informational questions patients might have when
they seek cancer genetic counseling.


Process
Students discuss their responses in the small or large group.
Estimated time: 45 min.


7.6 Class Activities

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