Clinical trial NCT04257045: Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
Official title: Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Breast Carcinoma
Deleterious CDH1 Gene Mutation
Deleterious DICER1 Gene Mutation
Deleterious SMARCA4 Gene Mutation
Deleterious STK11 Gene Mutation
Endometrial Carcinoma
Fallopian Tube Carcinoma
Ovarian Carcinoma
Primary Peritoneal Carcinoma
Lead sponsor: M.D. Anderson Cancer Center
Sponsor class: OTHER
Collaborators: name: National Cancer Institute (NCI)
First posted: 2020-02-05
Enrollment: 46
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients currently receiving diagnostic, treatment, or follow-up care in the outpatient Gynecologic Oncology and Medical Oncology clinics at Lyndon B. Johnson Hospital (LBJ), and their first-degree relatives.

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.

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
* STEP 2 (PROBANDS): Currently receives diagnostic, treatment, or follow-up care for female-breast cancer in the outpatient medical oncology clinics at LBJ; or currently receives diagnostic, treatment, or follow-up care for ovarian, fallopian tube, primary peritoneal or endometrial cancer in the outpatient gynecologic oncology clinic at LBJ or the outpatient gynecologic oncology clinic at The University of Texas MD Anderson Cancer Center (MD Anderson)
* STEP 2 (PROBANDS): Diagnosed with eligible cancer on or after January 1, 2014
* STEP 2 (PROBANDS): Has completed genetic counseling, with a pedigree available in the medical record (LBJ) or internal clinical and research database (progeny at MD Anderson)
* STEP 2 (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 2 (FDR): Speak and/or reads English or Spanish
* STEP 2 (FDR): First-degree relative of proband (son, daughter, full-brother, full-sister, mother, father)
* STEP 2 (FDR): Is present with proband at time of recruitment, or can be contacted by telephone via a U.S. telephone number
* STEP 2 (FDR): Is aware of proband's genetic testing result/mutation status, per proband report

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
* STEP 2 (FDR): Participated in step 1 interviews

Primary outcomes:
measure: Factors influencing decision-making and communication of genetic test results (Step 1)
timeFrame: Up to 3 years
measure: Rates of cascade testing among first-degree relatives (Step 2)
timeFrame: Up to 3 years
measure: Genetic testing rate (Step 2)
timeFrame: Up to 3 years
measure: Frequency of reported barriers (Step 2)
timeFrame: Up to 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama at Birmingham Cancer Center
state: Alabama
city: Houston
country: United States
facility: M D Anderson Cancer Center
state: Texas
Study officials:
affiliation: M.D. Anderson Cancer Center
name: Jose A Rauh-Hain
role: PRINCIPAL_INVESTIGATOR
References: