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Genetic Counselors’ Perceived Responsibilities Regarding Reproductive Issues for Patients at Risk for Huntington Disease

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Research indicates that health care professionals’ attitudes may affect patients’ decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors’ initial expectations of at-risk patients’ beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes. For example, participants identified their primary responsibility as information provision; less prevalent were psychosocial support and facilitating decision making. The most common ethical challenge was testing prenatally for HD which also results in presymptomatic testing of minors. Participants were divided about how directive to be in response to this ethical issue and about termination of a gene positive pregnancy.

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Acknowledgements

This study was completed in partial fulfillment of the requirements for the first author’s Master of Science degree from the University of Minnesota. We are grateful to the participants for taking the time to provide such thoughtful comments.

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Indiana University School of Medicine, Indianapolis, IN, USA

    Karrie A. Hines

  2. Department of Educational Psychology, University of Minnesota, 250 Education Sciences Building, 56 E. River Road, Minneapolis, MN, 55455, USA

    Patricia McCarthy Veach

  3. Department of Genetics, Cell Biology, and Development, Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA

    Bonnie S. LeRoy

Authors
  1. Karrie A. Hines
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  2. Patricia McCarthy Veach
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  3. Bonnie S. LeRoy
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Corresponding author

Correspondence to Patricia McCarthy Veach.

Appendix: Telephone Interview Protocol

Appendix: Telephone Interview Protocol

Motives for Participation:

  • First I am curious to know why you chose to participate in a study regarding reproductive decision making in individuals with a family history of Huntington disease.

Process Goals:

  • In thinking about helping people make reproductive decisions, can you describe how you go about facilitating the reproductive decision making process in individuals with a family history of Huntington disease?

    (Prompts: How do you learn about their expectations? How does that play into what you do? How would you describe what your responsibilities are when aiding in the decision making process? What do you say?)

Issues Regarding Prenatal Testing for Huntington Disease:

  • What are the issues you have identified regarding prenatal testing for Huntington disease?

  • What makes these issues so difficult?

  • What issues do you think patients struggle with?

    (Prompt: Why do they struggle with them?)

  • If I was a patient how would you explain/talk about these issues?

  • In thinking about the fact that we are able to offer prenatal testing for Huntington disease, however, there are guidelines recommending that children not be tested presymptomatically, how do we go about reconciling that?

    (Prompt: What, if anything, makes prenatal testing different from childhood testing in your opinion?)

Concrete Examples:

  • Can you tell me about a particularly difficult experience you have had in counseling a patient at risk for Huntington disease on reproductive decision making?

    (Prompts: What made it so difficult? How did you resolve this issue? How long ago did it occur? Where any other individuals involved?)

  • Can you describe a particularly successful experience you had counseling a patient at risk for Huntington disease on reproductive decision making?

    (Prompts: What made it so successful? How long ago did it occur? Were any other individuals involved?)

Individual Differences:

  • How have at-risk patients’ feelings and beliefs about reproductive decision making been different/the same as what you expected?

    (Prompts: When you first started working with at-risk families, what were your expectations regarding patient beliefs around reproductive decision making? What have you learned about what patients and families actually believe?)

Recommendations for Practice:

  • What would you tell novice counselors in order to be helpful to them in discussing reproductive decision making with individuals at risk for Huntington disease?

    (Prompts: What do you know now that you wish you had known when you started counseling this population of patients? How did you learn this?)

Final Interview Questions:

  • Before we end the interview, is there anything else you would like to add?

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Hines, K.A., McCarthy Veach, P. & LeRoy, B.S. Genetic Counselors’ Perceived Responsibilities Regarding Reproductive Issues for Patients at Risk for Huntington Disease. J Genet Counsel 19, 131–147 (2010). https://doi.org/10.1007/s10897-009-9265-5

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  • DOI: https://doi.org/10.1007/s10897-009-9265-5

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