Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing

Kallmann Syndrome Clinical Trial

Official title:

Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04733274
• Other study ID #: 18.081.01
• Status: Active, not recruiting
• Start date: March 22, 2018
• Est. completion date: July 1, 2024

Study information

• Verified date: July 2023
• Source: Boston College
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Description:

The focus of this study is to better understand perspectives on genetic testing. The study will collect and analyze both quantitative and qualitative data form healthcare professionals as well as patients. Findings will be used to inform more person-centered approaches to genetic testing that will support high-quality decisions that are informed and aligned with patient values and preferences. To achieve this, the study has three specific aims. Aim 1. Evaluate the understandability and acceptability of education materials (including information on genetic testing) co-created with patients. Patient education materials will be created drawing on healthcare professionals expertise (i.e. content experts) and patients (i.e. lived experience). Quality of materials will be quantitatively measured using the gold standard Patient Education Materials Assessment Tool (PEMAT). Aim 2. Identify the central elements for a patient decision aid using expert clinician opinion. Healthcare professionals who are content experts in the field will be surveyed to determine key information for a proposed genetic testing decision aid. Quantitative findings will guide the content of a patient decision aid for genetic testing. Aim 3. Explore patient needs for information and support related to genetic testing. Qualitative focus groups with patients will be conducted and analyzed using thematic analysis. Findings will inform the development of a patient decision aid for genetic testing that is responsive to the aspects which matter most to patients.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 227
• Est. completion date: July 1, 2024
• Est. primary completion date: June 21, 2021
• 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

Related Conditions & MeSH terms

• Hypogonadism
• Hypogonadism, Hypogonadotropic
• Kallmann Syndrome

Locations

Country	Name	City	State
United States	Massachusetts General Hospital	Boston	Massachusetts
United States	Boston College	Chestnut Hill	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Boston College	Massachusetts General Hospital

Country where clinical trial is conducted

United States, 

References & Publications (3)

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

Outcome

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