Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Breast Carcinoma
- Sponsor
- M.D. Anderson Cancer Center
- Enrollment
- 46
- Locations
- 2
- Primary Endpoint
- Genetic testing rate (Step 2)
- Status
- Completed
- Last Updated
- last year
Overview
Brief Summary
This trial collects information about factors that affect communication of genetic test results, decision-making, and access to genetic testing in women with hereditary gynecological cancers. Studying individuals who are positive for a genetic mutation and immediate biological family members (including a parent, full-sibling, or child) may help identify cancer genes and other persons at risk.
Detailed Description
PRIMARY OBJECTIVES: I. Identify and explore factors influencing the communication of genetic testing results from probands (patients with confirmed hereditary cancer predisposition syndrome) to their first-degree relatives. (Step 1) II. Identify and explore factors influencing decision making and pursuit of cascade testing among first-degree relatives of probands. (Step 1) III. Estimate the uptake of cascade testing by first-degree relatives of probands at a safety-net hospital and the uptake of cascade testing by first-degree relatives of probands at a comprehensive cancer center. (Step 2) IV. Estimate the frequency of reported factors that influence communication, decision-making, and pursuit of cascade testing among probands and their first-degree family members at a safety-net hospital and at a comprehensive cancer center. (Step 2) V. Explore similarities and differences in cascade genetic testing rates and reported barriers to cascade genetic testing of first-degree relatives at probands from a safety-net hospital and a comprehensive cancer center. (Step 2) OUTLINE: STEP I: Patients and first degree relatives participate in semi-structure, in-depth interviews about genetic testing over 45-60 minutes. STEP II: Patients and first degree relatives complete survey questionnaires over 20 minutes.
Investigators
Eligibility Criteria
Inclusion Criteria
- •STEP 1 (PROBANDS): Speaks and/or reads English or Spanish
- •STEP 1 (PROBANDS): Currently receiving diagnostic, treatment, or follow-up care in the outpatient gynecologic oncology and medical oncology clinics at LBJ
- •STEP 1 (PROBANDS): Has completed genetic counseling, with pedigree available in the medical record (LBJ)
- •STEP 1 (PROBANDS): Diagnosed with female-breast, ovarian, fallopian tube, primary peritoneal, endometrial cancer on or after January 1, 2014
- •STEP 1 (PROBANDS): Has a confirmed deleterious or suspected deleterious (pathogenic) variant in a hereditary gynecologic or breast cancer predisposition gene (including BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, BRIP1, PALB2, RAD51C, RAD51D, STK11, DICER1, SMARCA4, ATM, CHEK2, PTEN, TP53, CDH1, BARD1)
- •STEP 1 (FIRST-DEGREE RELATIVE \[FDR\]): Speaks and/or reads English or Spanish
- •STEP 1 (FDR): Is a first-degree relative of proband (son, daughter, full-brother, full-sister, mother, father)
- •STEP 1 (FDR): Is present with proband at time of recruitment, or can be contacted by telephone via a United States (U.S.) telephone number
- •STEP 1 (FDR): Is aware of proband's genetic testing result/mutation status, per proband report
- •STEP 2 (PROBANDS): Speaks or reads English or Spanish
Exclusion Criteria
- •STEP 1 (PROBANDS): No longer receives outpatient care at LBJ
- •STEP 1 (PROBANDS): Has a negative genetic testing result, a result identifying only a variant of uncertain significance, or results and pedigree that cannot be confirmed in the electronic medical record
- •STEP 1 (PROBANDS): Is unwilling or unable to provide informed consent
- •STEP 1 (FIRST-DEGREE RELATIVE \[FDR\]): Unwilling or unable to provide informed consent
- •STEP 2 (PROBANDS): No longer receives outpatient care at LBJ or MD Anderson
- •STEP 2 (PROBANDS): Has a negative genetic testing result, a result identifying only a variant of uncertain significance, or results and pedigree that cannot be confirmed in the electronic medical record
- •STEP 2 (PROBANDS): Unwilling or unable to provide informed consent
- •STEP 2 (PROBANDS): Participated in step 1 interviews
- •STEP 2 (FDR): Unwilling or unable to provide informed consent
- •STEP 2 (FDR): Reports no knowledge of proband's genetic testing status
Outcomes
Primary Outcomes
Genetic testing rate (Step 2)
Time Frame: Up to 3 years
Will construct a model with no predictors and will calculate the probability of genetic testing using the model's intercept as well as calculate the 95% confidence interval of this probability. Will then test factors associated with testing rates (including site \[Lyndon B. Johnson Hospital (LBJ) vs. MD Anderson (MDA)\], socioeconomic, demographic, medical history, and determinants) by including these as independent variables in our GLMMs.
Frequency of reported barriers (Step 2)
Time Frame: Up to 3 years
Factors influencing decision-making and communication of genetic test results (Step 1)
Time Frame: Up to 3 years
Rates of cascade testing among first-degree relatives (Step 2)
Time Frame: Up to 3 years
Will be calculated using summary statistics. Will construct a generalized linear mixed model (GLMM) with a logit link function to estimate rate of cascade testing among first-degree relatives.