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

NCT04733274 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 227

Last updated 2025-02-04

No results posted yet for this study

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

Sponsors & Collaborators

  • Massachusetts General Hospital

    collaborator OTHER

  • Boston College

    lead OTHER

Principal Investigators

  • Andrew A Dwyer, PhD · Boston College

Eligibility

Min Age
18 Years
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-03-22
Primary Completion
2021-06-21
Completion
2025-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04733274 on ClinicalTrials.gov