Nursing Case Study Assignment on Case Study – Huntington Disease and Issues in Genetic Testing

See attached rubric and instructions
Type Directly onto the attached document as the professor requested. Also, cite from the provided case and two cited sources for question 5 as instructed.

Discipline: Genetics and Genomics In Nursing

NURS 345 – Genetics and Genomics in Nursing

Case Study – Huntington Disease and Issues in Genetic Testing

Case Study:

Keith is 28 years old. He and his wife Jessica (age 27) make an appointment with a genetic counselor to discuss some concerns.  Jessica is 16 weeks pregnant with couple’s second child.  Their first child, Liam, is 4 years old.  Keith’s father, Mark, 55, was diagnosed at age 37 with Huntington disease (HD).   The father abandoned the family when Keith was four and his brother Bill was eight. The father has had no contact with the family since he left; so, Keith was unaware of his father’s diagnosis until his father contacted him about two weeks ago.  With the realization that his father may not live much longer, Keith has attempted reconciliation with his father, and they have had several productive discussions.


Mark attempted several times to contact Bill, but never received a response.  Keith tried to speak with Bill about their father, but Bill cut Keith off as soon as he realized the conversation was about Mark.  Bill remains bitter, refuses to visit his father, and is unwilling to forgive him for leaving the family.  Bill is aware of Mark’s diagnosis, but states that he does not want to know anything about his father or his illness, and refuses to speak about it.  Keith and Bill continue to be in touch but the relationship is strained by this situation.


During an initial session with Keith and Jessica, the genetic counselor takes a family history and constructs a pedigree.  The counselor discusses all aspects of Huntington disease with Keith and Jessica and educates them regarding the process and outcomes of the available genetic tests.  Keith undergoes neurological and psychological exams in preparation for genetic testing, and subsequently tests positive for the gene mutation for HD.  He had intended to tell Bill about what he learned in counseling sessions, but is now so angry that he states that Bill “does not deserve to know” about the risk, and has absolutely no intention of sharing this information with him now.  The counselor asks Keith if he would like the counselor to contact Bill regarding Keith’s results and potential counseling.  Keith tells the counselor that she cannot disclose any of Keith’s results to Bill.


Bill is employed at the local nuclear power plant as an engineer. Bill is married to his partner Jack and they have an adopted 5-year-old daughter Mia.  They are considering having a biological child using a donor ovum, co-mingled sperm from both Bill and Jack, and a surrogate to carry the child.


Provide answers to the questions below. Answers may be typed on this form but please double-space your answers. Please provide in-text citations and a reference list for the sources used to answer question 5.

  1. Discuss how HD is inherited and what is the (genetic) mechanism of illness? Include consideration of the genetic principles of expressivity, penetrance and anticipation.
  2. Discuss the manifestations of this age-related phenotype. (Symptoms, timing, progression)
  3. Identify nursing diagnoses for Keith and/or his family (Jessica, Liam, and the unborn fetus) in the identified domains. Provide two interventions for each diagnosis. (Complete the table below for this question.)
  4. What information should the nurse include in counseling/educating Keith? (Complete the table below for this question.)
  5. Keith asks if he should have Liam, (their 4-year-old) tested for HD. What would you recommend and why?  Jessica also asks about testing the unborn fetus for HD.  Would testing of the fetus be recommended? Why or why not?  Include the recommendations of at least two professional organizations in this discussion.
  6. If Keith continues to refuse to notify Bill of his risk of HD, do you believe that the the counselor is justified in violating Keith’s privacy to notify Bill? Why or why not?
  7. What genetic risks are there for Bill’s family related to the inheritance of HD? What recommendations do you think the genetic counselor should make to Bill and Jack?
  8. Draw a three-generation pedigree consistent with this case.

Nursing Diagnoses and Interventions

Using this table provide three diagnoses with two interventions addressing the indicated issues:


Diagnosis Domain Diagnosis Intervention 1 Intervention 2
Physiological Function
Psychosocial Function
Future care planning


Educational Plan

Using this table, identify a teaching/learning plan for Keith and his family. Do not make this an exhaustive plan. One content area for each focus is sufficient.


Teaching/Learning Focus Teaching Content Teaching Methods Teaching Evaluation
Physical Needs
Psychosocial Needs
Genetic Basis for HD
Family Issues
End-of-Life Planning