Genetic Testing Process Practice Activity

Suzie Case Study

Patient Intake: Suzie

Presenting Concerns
7 year old female with developmental delay, hypotonia, and dysmorphic features Accompanied to clinic by her mother, Marie, and maternal grandmother, Jane

Developmental History
Recent developmental evaluation report reveals Suzie functions at the level of a 5 year-old.

Past Medical History

History of two ear infections and strep throat.

Birth History
Born at term via an uncomplicated vaginal delivery, no prenatal complications.

Family History
Suzies mother has mild learning delays but no other major medical problems. Suzies mother Marie never met her own father and has no paternal family information. Marie is also unsure who Suzies father is. He is one of two individuals with no known medical problems. Marie is no longer in contact with either of these individuals, and has no information about their family medical history.

Physical Exam
Moderate hypotonia Smooth philtrum (cupids bow) Widely spaced, downslanting palpebral fissures

Differential Diagnosis & Genetic Testing

Due to these non-specific clinical findings, you want to order a chromosomal microarray to evaluate for a microdeletion or microduplication syndrome.

Published September 2013 NCHPEG All rights reserved

Assessment & Counseling

Part 1: Assess Benefits, Limitations, and Risks
Using the aCGH handout, work with your small group to answer the following questions: What is the likelihood of finding a variant in Suzie? Would a variant provide information about disease course? Would a variant shed light on reproductive risk for Suzies parents? Is there a risk of uncertain, uninformative, or unexpected results?

Part 2: Outline Your Goals for the Family

Now that you have outlined testing implications for yourself, how would you translate that for the family? Discuss your approach to the following questions with your small group: What are your initial counseling messages for this family? How much information would you provide? What kind of language would you use? Would you use any teaching tools besides conversation?

Part 3: Assess Family Goals and Expectations

What might be the familys motivations for testing? What might they be hoping for? How would you probe for this information?

Part 4: Set Expectations

What can realistically be done with the results? How would you help the family have realistic expectations? What various outcomes should they be prepared for? What do they need to know about the testing process?

Published September 2013 NCHPEG All rights reserved