Genetic Testing in Autosomal Dominant Polycystic Kidney Disease

Study Overview
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Brief Summary
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Individuals with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) often have a family history of the condition although up to 10-15% of cases are sporadic mutations. The investigators recently conducted an analysis of the investigators clinic population to determine percentages of individuals who have undergone kidney imaging and genetic testing and determined total numbers of patients eligible for tolvaptan and those currently active on tolvaptan. The study team found large racial discrepancies in usage of tolvaptan and found that more patients are eligible for tolvaptan than are currently taking the medication. Reasons for this are often due to patient perception about the medication rather than treatment failure. There is a strong medical need to understand reasons for underuse of this critical medication in this population. Among those with genetic testing, the study team found large disparities in ethnic background between individuals offered genetic testing who accept versus decline testing. The study team also found that those who choose to pursue genetic testing are more likely to have no family history of the condition, presumably because the diagnosis is more surprising to them and thus desire for verification by genetic testing, if possible, is greater. However, it is known that genetic testing can be an important component of understanding of disease biology in all patients with ADPKD, while also providing important clinical information in some cases as individuals prepare for living donor transplantation or family planning. The investigators seek to understand barriers to use of tolvaptan and genetic testing among individuals in the clinic population and their relatives across a wide range of racial and ethnic backgrounds. The investigators hypothesize that anxiety about genetic conditions in particular is a barrier to accepting testing. The investigators seek to understand the mental health aspects of the diagnosis of ADPKD. They will also evaluate changes in symptoms compared to pre-treatment after initiation of tolvaptan in eligible individuals using qualitative techniques. In so doing, the study team hope to improve care for current patients and also to expand the pool of the clinic population to include newly diagnosed family members ideally at early stages of disease.

Official Title
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Using Culturally-sensitive Discussions and Genetic Testing to Improve Access to Early Autosomal Dominant Polycystic Kidney Disease Care and Improve Health Disparities

Conditions
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ADPKD

Intervention / Treatment
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* Other: Survey


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of ADPKD Exclusion Criteria: -

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with ADPKD<br>The participants will receive a survey. | Other: Survey<br>* Groups will receive a survey to assess attitudes about diagnosis, treatment, and genetic testing in ADPKD.<br>|
| Family members of patients with ADPKD<br>The family members of participants will receive a survey. | Other: Survey<br>* Groups will receive a survey to assess attitudes about diagnosis, treatment, and genetic testing in ADPKD.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Questionnaire responses regarding anxiety, genetics, and genetic testing attitudes in PKD participants and family members. | The survey incorporates the GAD4 questionnaire, which has scores graded from 0-3. It also includes questions graded on a Likert scale (1-5). The outcome measures will be reported as mean (SD) for each question on the survey. The investigators have developed a survey entitled Anxiety, genetics, and polycystic kidney disease incorporating elements of the GAD-4 questionnaire and tools developed by Lidewij Henneman to evaluate genetic testing attitudes among the general public. | The investigators will administer one baseline survey over a recruitment time frame of 4 weeks and thereafter solicit family member participation for one-time survey measurements through study completion, up to one year. |