Clinical trial NCT04733274: Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing
Official title: Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Hypogonadism, Hypogonadotropic
Kallmann Syndrome
Lead sponsor: Boston College
Sponsor class: OTHER
Collaborators: name: Massachusetts General Hospital
First posted: 2021-02-02
Enrollment: 227
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Observational model: ECOLOGIC_OR_COMMUNITY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS)

Brief 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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: Evaluate the understandability and acceptability of education materials (including information on genetic testing) cocreated with patients
timeFrame: 1-hour post-test
measure: Identify the central elements for a patient decision aid using expert clinician opinion
timeFrame: baseline
measure: Explore patient needs for information and support related to genetic testing
timeFrame: baseline
Secondary outcomes:
measure: Compare face-to-face and virtual focus group formats
timeFrame: baseline
Other outcomes:
Locations:
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Chestnut Hill
country: United States
facility: Boston College
state: Massachusetts
Study officials:
affiliation: Boston College
name: Andrew A Dwyer, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
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.
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.