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

Status: Active_not_recruiting
Location: See all (2) locations...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 70
View:

• 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

Locations
United States
Massachusetts
Massachusetts General Hospital
Boston
Boston College
Chestnut Hill
Time Frame
Start Date: 2018-03-22
Completion Date: 2025-12-31
Participants
Target number of participants: 227
Authors
Andrew A Dwyer
Sponsors
Collaborators: Massachusetts General Hospital
Leads: Boston College

This content was sourced from clinicaltrials.gov