Active — Not RecruitingNot Applicable

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

United States227 participantsStarted 2018-03-22

Plain-language 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.

Who can participate

Age range

18 Years – 70 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: 1-hour post-test

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

Timeframe: baseline

Explore patient needs for information and support related to genetic testing

Timeframe: baseline

Trial details

NCT IDNCT04733274

SponsorBoston College

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-06-21

View on ClinicalTrials.gov More Hypogonadism, Hypogonadotropic trials

Plain-language summary

Who can participate

Age range

18 Years – 70 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

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

Timeframe: 1-hour post-test

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

Timeframe: baseline

Explore patient needs for information and support related to genetic testing

Timeframe: baseline