Pro-Active Genetic Testing in Patients With Solid Tumors, Inherit Study

Phase 1

Completed

Conditions: Malignant Solid Neoplasm
Metastatic Malignant Neoplasm of Unknown Primary
Malignant Central Nervous System Neoplasm
Malignant Female Reproductive System Neoplasm
Malignant Head and Neck Neoplasm
Malignant Musculoskeletal Neoplasm
Breast Carcinoma
Malignant Brain Neoplasm
Digestive System Neoplasm
Malignant Genitourinary System Neoplasm

Interventions: Procedure: Biospecimen Collection
Other: Genetic Counseling
Other: Genetic Testing
Other: Survey Administration

Brief Summary: This phase I trial collects blood samples to investigate the prevalence of changes in genes (genetic mutations) in solid tumor patient populations seeking care at Mayo Clinic Embedded Cancer Center at St. Vincent's Riverside. This may help doctors better understand and/or treat others who have genetic mutations.

Detailed Description: PRIMARY OBJECTIVE:

I. To determine the prevalence of genetic mutations in cancer patients seeking care at the Mayo Clinic Cancer Center at St. Vincent's Riverside in Jacksonville, Florida.

SECONDARY OBJECTIVES:

I. Perform a chart review to assess the impact of genetic testing as part of standard of oncology care:

Ia. Determine differences in germline mutation detection in these patients as compared to traditional guideline (National Comprehensive Cancer Network \[NCCN\]) based approach for genetic evaluation.

Ib. Determine the percentage of relatives of mutation positive probands undergoing family variant testing within a 3 month window of return of testing results.

Ic. Assess patient experience and barriers to care with a genetic service line via survey measures.

Id. Develop a biorepository of samples (blood) from cancer patients participating in this protocol.

OUTLINE:

Patients watch a pre-recorded genetic counseling video and those who consent to genetic testing undergo collection of blood samples. Patients also complete surveys over 5-15 minutes each prior to receiving their genetic test results and following the receipt of genetic test results.

Recruitment & Eligibility

Inclusion Criteria

Individuals diagnosed with any solid tumor cancer (stages 1-4) including, but not limited to, gastrointestinal, breast, gynecological, genitourinary, skin, central nervous system (CNS)/brain, head/neck, musculoskeletal or cancer of unknown primary
Blood collection is feasible (health, access and/or tolerability) for requested blood sample(s)
Individuals have agreed to participate and signed the study informed consent form

Exclusion Criteria

Individuals who do not meet study inclusion criteria
Individuals with an active hematologic malignancy
Patients who have had prior germline genetic testing involving a 40+ gene panel within the last 24 months at Mayo Clinic or St Vincent's Healthcare and available for review by the research coordinator at time of consent

Arm && Interventions

Group	Intervention	Description
Prevention (pre-genetic test counseling, genetic testing)	Genetic Counseling	Patients watch a pre-recorded genetic counseling video and those who consent to genetic testing undergo collection of blood samples. Patients also complete surveys over 5-15 minutes each prior to receiving their genetic test results and following the receipt of genetic test results.
Prevention (pre-genetic test counseling, genetic testing)	Genetic Testing	Patients watch a pre-recorded genetic counseling video and those who consent to genetic testing undergo collection of blood samples. Patients also complete surveys over 5-15 minutes each prior to receiving their genetic test results and following the receipt of genetic test results.
Prevention (pre-genetic test counseling, genetic testing)	Biospecimen Collection	Patients watch a pre-recorded genetic counseling video and those who consent to genetic testing undergo collection of blood samples. Patients also complete surveys over 5-15 minutes each prior to receiving their genetic test results and following the receipt of genetic test results.
Prevention (pre-genetic test counseling, genetic testing)	Survey Administration	Patients watch a pre-recorded genetic counseling video and those who consent to genetic testing undergo collection of blood samples. Patients also complete surveys over 5-15 minutes each prior to receiving their genetic test results and following the receipt of genetic test results.

Primary Outcome Measures

Name	Time	Method
Rate of mutation detection	Up to 3 months	Will be compared via genetic testing to clinical practice guidelines of traditional family history criteria within cancer site, age, and stage using logistic regression and pairwise post-hoc analyses as needed.
Difference between prevalence of positive pathogenic germline mutations	Up to 3 months	Will be assessed by cancer sites, age of diagnosis, and stage of diagnosis using logistic regression analysis across all cancer site groups, and pairwise post-hoc analyses using Tukey's correction for multiple comparisons across pairs of cancer sites, and chi-square tests of differences between age and stage groups.
Prevalence of pathogenic germline mutations	Up to 3 months	Will be assessed by each cancer site, age (\< 60 years old versus \[vs.\] \>= 60 years old), and stage (early vs. advanced) via descriptive statistics.
Incidence rate of germline pathogenic genetic mutations in cancer patients seen at St Vincent's and uptake rate of cascade testing in families	Up to 3 months	Assessed using pairwise post-hoc analyses

Secondary Outcome Measures

Name	Time	Method
Differences in survey responses between patient groups	Up to 3 months	Patients will be grouped by genetic test result (positive vs. negative), age (\< 60 years old vs. \>= 60 years old), stage (early vs. advanced), and over time (enrollment vs. after test results are received).

Locations (2): Mayo Clinic in Arizona
🇺🇸
Scottsdale, Arizona, United States
Mayo Clinic in Florida
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Jacksonville, Florida, United States