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

NCT04733274 | Active Not Recruiting

• 1 other identifier: 18.081.01
• Study Type: observational
• Target: 227
• Locations: 1 country
• Sites: 2

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.

Conditions

Hypogonadism, Hypogonadotropic; Kallmann Syndrome

Outcome Measures

Primary Outcomes (3)

• 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

• 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

• 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 Outcomes (1)

• Compare face-to-face and virtual focus group formats

  baseline

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS)

You may qualify if:

• self-identified as having been diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS)
• between the ages of 18-70 years
• primary language is English/capable of responding to a written questionnaire in English
• has lived in the United states for 5 years or longer
• checking the opt-in electronic consent

You may not qualify if:

• other diagnosis of hypogonadism i.e. Klinefelter syndrome, or adult-onset hypogonadotropic hypogonadism
• outside the stated age range

Sponsors & Collaborators

• Boston College: lead
• Massachusetts General Hospital: collaborator

Study Sites (2)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Boston College

Chestnut Hill, Massachusetts, 02467, United States

Location

Related 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.

  PMID: 36089593 BACKGROUND

• 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.

  PMID: 33971926 RESULT

• 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.

  PMID: 35330476 RESULT

MeSH Terms

Conditions

Hypogonadism; Kallmann Syndrome

Condition Hierarchy (Ancestors)

Gonadal Disorders; Endocrine System Diseases; Disorder of Sex Development, 46,XY; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Andrew A Dwyer, PhD

  Boston College

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: January 25, 2021
• First Posted: February 2, 2021
• Study Start: March 22, 2018
• Primary Completion: June 21, 2021
• Study Completion: December 31, 2025
• Last Updated: February 4, 2025

Record last verified: 2025-02

Locations

US (2)