Adolescent Perspectives on Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS)

Overview

About this study

The purpose of this study is to examine adolescents' experiences with and perspectives on current practices in Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), current strengths and challenges of the process of WES and WGS and receiving results, and suggestions for the future. Semi-structured interviews will be conducted with adolescents who have had WES or WGS to generate this unique dataset.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Adolescents must be ages 12-17.
  • English-speaking.
  • Have had Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES).
  • Adolescents must have a parent or guardian consent to allow them to participate in the study.

Exclusion Criteria:

  • Adolescents who are not of normal cognitive function will be excluded. Normal cognitive function will be determined by the absence of an Individual Education Plan (IEP) in the area of cognitive impairment/mental retardation. IEPs can happen in many different areas, and just because a child has an IEP does not mean that they will disqualify for the study. For example, IEPs in the area of specific learning disability, other health impairment, autism, orthopedic impairment, significant developmental delay, and/or vision impairment are not disqualifying. However, IEPs in the area of cognitive disability/ mental retardation is disqualifying because it means the child’s IQ is below 70, which is two standard deviations below average. The reason children with cognitive disability are not eligible for this study is that we are interested in studying a specific age range (12-17 years) and children who have a cognitive disability may not be able to understand and/or process information at a comparative level as a 12-17-year-old with normal cognitive function.  The reason children with IEPs in the area of significant developmental delay and/or specific learning disabilities are not excluded is that an IEP in the area of significant developmental delay is only used for children under the age 9, and an IEP in the area of specific learning disability requires the child to have an average IQ. In the telephone screening script, the parent will be asked if the child has ever had, or currently has an IEP (see TelephoneScreeningScript.docx). If the child has had, or currently has an IEP, the parent will further be asked the area of the child’s IEP. As stated above, minors who have an IEP in the area of cognitive impairment/mental retardation will be excluded. However, minors who have an IEP in any other area will be included. If the parent doesn’t know what area their child’s IEP is in, then we will err on the side of caution and exclude the individuals from the study.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Richard Sharp, Ph.D.

Closed-enrolling by invitation

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"Close"
Not open to everyone who meets the eligibility criteria, but only those invited to participate by the study team.

Contact information:

Kelsey Finn Ph.D.

(507) 293-9877

Stuttgen.Kelsey@mayo.edu

More information

Publications

Publications are currently not available