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NCT Number: NCT04733274

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

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

Age range

18 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Massachusetts General Hospital, Boston, Massachusetts, United States

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About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. Evaluate the understandability and acceptability of education materials (including information on genetic testing) cocreated with patients

    Time frame: 1-hour post-test

    Patient Education Materials Assessment Tool (PEMAT): higher scores indicate materials that are more readily understood and actionable by patients

  2. Identify the central elements for a patient decision aid using expert clinician opinion

    Time frame: baseline

    survey with Likert-type scale questions: higher scores indicate a perceived higher priority for respective items/topic matter

  3. Explore patient needs for information and support related to genetic testing

    Time frame: baseline

    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

Secondary outcomes

  1. Compare face-to-face and virtual focus group formats

    Time frame: baseline

    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

Sponsors and collaborators

Lead sponsor

Boston College

Other

Collaborators

  • Massachusetts General Hospital

Registry information

Important dates

Study start
2018
Primary completion
2021
Study completion
2025
First posted
Feb 2, 2021
Registry last updated
Feb 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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