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Utilization of the Tablet Application Proband in Pedigree Construction and Assessment

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Many medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual’s health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L., & Bennett 2009). Many clinicians continue to construct pedigrees using pen and paper method despite findings of improved identification of at risk patients with similar electronic intake tools (Arar et al. in Personalized Medicine 2011 8:523–32). The goal of this study was to explore the patient and practitioner experience with electronic pedigree programs using Proband, an application developed at The Children’s Hospital of Philadelphia for genetic counselors to construct pedigrees during genetic counseling sessions directly on iPads. The first part of this study looked at the patient experience and assessed time to take the pedigree and the impact of using an electronic pedigree tool on the relationship between participant and genetic counselor. This involved 50 participants and was compared with the traditional paper method of taking a pedigree. There was no statistical significance found between the two different mediums in accuracy, speed, and rapport with provider. The second part of the study assessed the usability of Proband by ten genetic counselors. Overall, the application received a system usability score of 90/100 with a majority (7/10) of counselors agreeing that they would use this application in their clinic. The positive outcome of this study encourages future work to assess the impact and usability of programs on a larger scale as they continue to integrate into current electronic health records.

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Acknowledgements

The authors would like to acknowledge the University of Arcadia Genetic Counseling Program for the use of their classroom to conduct the sessions. This study was in part performed to fulfill a degree requirement for the first author.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Funding

This research was partially supported by The Ellington Beavers Award for Intellectual Inquiry and NHGRI Clinical Sequencing Exploratory Research (CSER) Program grant 5U01HG006546-02.

Author information

Authors and Affiliations

  1. Genetic Counseling Program, College of Health Sciences, University of Arcadia, Glenside, PA, USA

    Andrew Joseph McCarty & Lisa Kessler

  2. Pittsburgh, USA

    Andrew Joseph McCarty

  3. Department of Biomedical and Health Informatics, Children’s Hospital of Pittsburgh, Philadelphia, PA, USA

    Jeffrey M. Miller & Jeffrey W Pennington

  4. NxGen MDx, Grand Rapids, MI, USA

    Heather Fecteau

Authors
  1. Andrew Joseph McCarty
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  2. Jeffrey M. Miller
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  3. Heather Fecteau
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  4. Jeffrey W Pennington
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  5. Lisa Kessler
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Corresponding author

Correspondence to Andrew Joseph McCarty.

Ethics declarations

Conflict of Interest

Jeffrey M. Miller owns intellectual property in both the Proband app and Proband-Connect, an optional enterprise server for the Proband app.

Appendix 1

Appendix 1

Questionnaire

  1. 1.

    The genetic counseling student accurately recorded my family members (ie. Correct number of sibs, children, etc)

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 2.

    The genetic counseling student accurately recorded the medical information about each of my family members

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 3.

    The genetic counseling student paid attention to me while documenting my family history.

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 4.

    The genetic counseling student maintained good eye contact while documenting my family history.

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 5.

    I felt engaged in the process of sharing my family history.

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 6.

    I felt that the confidentiality of my health history was maintained

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 7.

    Meeting with the genetic counseling student to construct my family history was valuable to me.

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 8.

    I like the format of how my family history information was presented.

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 9.

    I am satisfied with my session of documenting my family history.

1. Strongly disagree 2. Disagree somewhat 3. Uncertain 4. Agree somewhat 5. Agree strongly

  1. 10.

    Did you choose to take a copy of your family history with you after the appointment?

Yes

No

If yes – what do you plan on doing with the information

  1. a.

    Share with family

  2. b.

    Share with physician

  3. c.

    Nothing

  4. d.

    Don’t know

  1. 11.

    Please provide any other information about the experience of having your family history information collected.

Demographics

  1. 12.

    Indicate your age range

  1. a.

    18-20

  2. b.

    20-30

  3. c.

    30-40

  4. d.

    40-50

  5. e.

    50 plus

  1. 13.

    Do you own a tablet such as an iPad or android based?

YES

NO

  1. 14.

    What is the highest level of education completed?

    1. a.

      High school

    2. b.

      Bachelor Degree

    3. c.

      Master Degree

    4. d.

      Doctoral Degree

  2. 15.

    Are you comfortable with medical information stored electronically?

    1. a.

      YES

    2. b.

      NO

  3. 16.

    Have you used an iPad in a medical setting?

    1. a.

      YES

    2. b.

      NO

  1. 17.

    Have you used an iPad in an educational setting?

    1. a.

      YES

    2. b.

      NO

  1. 18.

    Do you feel your family history information was taken down accurately?

    1. a.

      Yes

    2. b.

      No =go to next question

  2. 19.

    If not, what do you believe got in the way of this?

    1. a.

      I wasn’t familiar with my family history

    2. b.

      I don’t think the genetic counselor recorded all the information

    3. c.

      I didn’t feel comfortable sharing all of my family history

    4. d.

      Other: _________________________________

  3. 20.

    Did you elect to keep a copy of your family history?

    1. a.

      Yes

      1. i.

        Did you like the way the family history was presented? Could you understand it?

        1. 1.

          Yes

        2. 2.

          No

    2. b.

      No

  4. 21.

    a.

    b.

    c.

    d.

  5. 22.

    What is your opinion on the eye contact the researcher made with you while filling out the family tree?

    1. a.

      Excellent, I felt they did a great job and heard what I was saying

    2. b.

      Good, there were times I felt the genetic counselor was not connecting to our conversation.

    3. c.

      Fair, I didn’t feel the genetic counselor made good eye contact with me and connected to our conversation

    4. d.

      Poor, the genetic counselor made poor eye contact and spent most of the time looking at what they were writing/typing than listening to me.

  6. 23.

    Do you feel that using the ______(paper and pen/iPad) got in the way of your understanding as your family tree was recorded?

    1. a.

      Yes= go to next question

      1. i.

        If so, how?

    2. b.

      No

  7. 24.

    How do you feel about the privacy of your information on the ______(paper and pen/iPad)?

    1. a.

      I feel good that the family history information was collected correctly

    2. b.

      I have no feeling either way

    3. c.

      I do not feel good about the privacy of my information collected

      1. i.

        Why

  8. 25.

    Do you feel you were listened to while the counselor took your family tree down?

    1. a.

      Yes

    2. b.

      No=go to next question

      1. i.

        If no, what do you think was missed?

  9. 26.

    Did you find anything about taking the family tree distracting?

    1. a.

      Yes= go to next question

      1. i.

        If so what?

        1. 1.

          The room the information was collected in

        2. 2.

          The genetic counselor

        3. 3.

          Other:

  1. 27.

    Were there any technical issues that you felt inhibited the whole process?

    1. a.

      No

    2. b.

      Yes=for to next question

      1. i.

        Explain:

  2. 28.

    Do you have any additional comments, concerns or opinions about the ______(paper and pen/iPad) your family tree was taken?

    1. a.

      Open response

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McCarty, A.J., Miller, J.M., Fecteau, H. et al. Utilization of the Tablet Application Proband in Pedigree Construction and Assessment. J Genet Counsel 27, 406–415 (2018). https://doi.org/10.1007/s10897-017-0197-1

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  • DOI: https://doi.org/10.1007/s10897-017-0197-1

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