Clinical trial NCT06875700: Beliefs, Attitudes, and Response to Genetic Testing in SarcomaPatients
Official title: Beliefs, Attitudes, and Response to Genetic Testing in Sarcoma Patients
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Leiomyosarcoma
Lead sponsor: University of Utah
Sponsor class: OTHER
Collaborators: name: National Cancer Institute (NCI)
name: University of New South Wales
name: University of Michigan
First posted: 2025-03-13
Enrollment: 300
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: The study population will be Patients with a confirmed or suspected diagnosis of LMS and Relatives of LMS patients.

Brief summary: Genomic research has shown that a portion of leiomyosarcomas can be attributed to an underlying cancer predisposition syndrome. However, the optimal approach for incorporating germline testing into the care of these patients. This study is assessing the beliefs about the heritability of leiomyosarcoma and other cancer risks, and attitudes towards germline testing among leiomyosarcoma patients.

Detailed description: This is a descriptive study to explore attitudes to genomics and return of genetic information and examine the cognitive and affective impact of receiving germline genetic information among LMS patients and their family members.The present study will aim to do the following:

* Assess leiomyosarcoma (LMS) patients' beliefs and attitudes about the heritability of LMS and their interest in genetic testing.
* Among LMS patients who undergo genetic testing, evaluate the cognitive, affective, and communication outcomes of genetic testing in LMS patients found to have actionable germline germline pathogenic variants (PVs).
* Evaluate family members' beliefs and attitudes about the heritability of reasons for undergoing genetic testing and responses.

Prior studies of cancer patients have found a strong interest in genetic testing so at-risk relatives will have the opportunity to have increased cancer screening or take risk-reducing measures to prevent cancer. However, the genes most strongly associated with LMS are tumor protein 53 (TP53) gene and Retinoblastoma 1 (Rb1) gene. These genes cause risks for cancers that families may be less familiar with and that have less well-established approaches for screening and prevention.

LMS may not be the most significant cancer risk related to the syndrome associated with the PV identified. The finding of risk for other non-LMS cancers may be unexpected and incongruent with the family's experience or focus on the LMS being treated. Screening recommendations for relatives testing positive for these PV will generally be given cancer screening recommendations targeted towards risks for cancers other than LMS.

Patients beginning or in the midst of cancer treatment may be less able to share and effectively communicate about genetic test results to patients. We need to better understand how patients and family members respond to findings to maximize the clinical benefit of this information and support family communication.

LMS patients will be identified by querying the enterprise data warehouse (EDW) and Huntsman Tumor Registry and prospectively by reviewing clinic and tumor board lists.

Eligibility criteria: Inclusion LMS Proband

* Actionable germline PV detected in the research context
* Living
* No prior germline testing for this PV
* Able to speak and read English
* Mentally competent
* Age 18 or older

Relative of LMS Proband

* 25-50% chance for having inherited the PV
* No prior germline testing for this PV
* Able to speak and read English
* Mentally competent
* Age 18 or older

Exclusion (both cohorts)

* \<18 years
* Unable to read or write

Primary outcomes:
measure: Beliefs about the heritability of Leiomyosarcoma
timeFrame: up to 1 day from study enrollment
Secondary outcomes:
measure: Interest in germline genetic testing
timeFrame: up to 1 day from study enrollment
Other outcomes:
measure: Uptake in germline genetic testing
timeFrame: up to 1 day from study enrollment
measure: Preferences for receiving information about germline testing
timeFrame: up to 1 day from study enrollment
Locations:
city: Salt Lake City
country: United States
facility: Huntsman Cancer Institute at the University of Utah
state: Utah
Study officials:
References: