Leiomyosarcoma
Conditions
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.
Interventions
None listed
Sponsors
National Cancer Institute (NCI)
University of New South Wales
University of Michigan
University of Utah
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Beliefs about the heritability of Leiomyosarcoma | up to 1 day from study enrollment | This outcome will report the count of participants who self-reported a strong belief in heritability. Participants who responded on a questionnaire that sarcoma is somewhat or highly heritable are considered to have a strong belief in heritability. This outcome measure will be assessed on Day 1 of the study. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Interest in germline genetic testing | up to 1 day from study enrollment | This outcome will report the count of participants who self-reported an interest in germline genetic testing. This will report the number of participants who respond on a baseline questionnaire that they are interested in having a genetic test related to cancer risk. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Uptake in germline genetic testing | up to 1 day from study enrollment | This outcome will report the count of participants who proceed with germline genetic testing. Participants will be asked on their baseline questionnaire if they have completed germline genetic testing. |
| Preferences for receiving information about germline testing | up to 1 day from study enrollment | This outcome will report the count of participants who self-reported sources for genetic testing information as helpful. Participants will rank questions about sources of information from 1 Not helpful at all to 6 Extremely helpful on their baseline questionnaire. Participants who reported \>5 on this scale are considered to have found the source for genetic testing information as helpful. This outcome will assess information presented in tables and graphs and information presented numerically. |
Countries
United States
Contacts
Primary ContactGregg Wood
Outcome results
None listed