Kallmann Syndrome Clinical Trial
Official title:
Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing
Verified date | July 2023 |
Source | Boston College |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
Technologic advances (i.e. next generation sequencing technologies and novel bioinformatics approaches) have been drivers of scientific discovery and have deepened our understanding of the genetics and genomics of health and disease. In parallel, the falling cost of sequencing has led to screening moving from specialty clinics into the primary care setting. However, our ability to help patients and families understand these technologies and related genetic health literacy issues lag behind. These factors pose a number of questions and challenges for clinicians including: how can we best present complex genetic/genomic information to patients to ensure that patients understand the information and can make informed decisions? What are the specific information and support needs of patients and families to be able to make decisions that are in line with their values? In collaboration with investigators from the Harvard Reproductive Endocrine Sciences Center at the Massachusetts General Hospital, this project broadly aims to examine patient understanding and factors affecting decisions surrounding genetic testing. Using the paradigm of a rare genetic disorder (isolated gonadotropin releasing hormone [GnRH] deficiency - hypogonadotropic hypogonadism/Kallmann syndrome [HH/KS]) we will examine the views and perspectives of patients and healthcare professionals alike regarding genetic/genomic information and testing with the intention of identifying patient-centered responses to these unmet needs and challenges.
Status | Active, not recruiting |
Enrollment | 227 |
Est. completion date | July 1, 2024 |
Est. primary completion date | June 21, 2021 |
Accepts healthy volunteers | |
Gender | All |
Age group | 18 Years to 70 Years |
Eligibility | Inclusion Criteria: 1. self-identified as having been diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS) 2. between the ages of 18-70 years 3. primary language is English/capable of responding to a written questionnaire in English 4. has lived in the United states for 5 years or longer 5. checking the opt-in electronic consent Exclusion Criteria: 1. other diagnosis of hypogonadism i.e. Klinefelter syndrome, or adult-onset hypogonadotropic hypogonadism 2. outside the stated age range |
Country | Name | City | State |
---|---|---|---|
United States | Massachusetts General Hospital | Boston | Massachusetts |
United States | Boston College | Chestnut Hill | Massachusetts |
Lead Sponsor | Collaborator |
---|---|
Boston College | Massachusetts General Hospital |
United States,
Dwyer AA, Uveges M, Dockray S, Smith N. Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats. Orphanet J Rare Dis. 2022 Sep 11;17(1):354. doi: 10.1186/s13023-022-02522-3. — View Citation
Dwyer AA, Uveges MK, Dockray S, Smith N. Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care. J Pers Med. 2022 Mar 16;12(3):477. doi: 10.3390/jpm12030477. — View Citation
Dwyer AA, Zeng Z, Lee CS. Validating online approaches for rare disease research using latent class mixture modeling. Orphanet J Rare Dis. 2021 May 10;16(1):209. doi: 10.1186/s13023-021-01827-z. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Evaluate the understandability and acceptability of education materials (including information on genetic testing) cocreated with patients | Patient Education Materials Assessment Tool (PEMAT): higher scores indicate materials that are more readily understood and actionable by patients | 1-hour post-test | |
Primary | Identify the central elements for a patient decision aid using expert clinician opinion | survey with Likert-type scale questions: higher scores indicate a perceived higher priority for respective items/topic matter | baseline | |
Primary | Explore patient needs for information and support related to genetic testing | Qualitative focus group findings (thematic analysis) - open ended questions will probe the nature of experiences with genetic testing as well as perceived promoters and barriers to testing and sharing results with potentially at-risk blood relatives | baseline | |
Secondary | Compare face-to-face and virtual focus group formats | similarities/differences in face-to-face vs. virtual focus groups - emergent themes form face-to-face and virtual focus groups will be compared to identify similarities/differences in the type and quantity of elicited codes | baseline |
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