Multiplex Testing for Breast Cancer Susceptibility: A Pilot Study of Subject Preferences for Information and Responses After Testing

NCT01992471 | Completed

• 1 other identifier: 13-215
• Study Type: observational
• Target: 197
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to find out what kinds of information people would like to receive from a new kind of genetic testing, and how they respond to this new kind of testing.

Conditions

Breast Cancer

Keywords

BRCA1 testing; BRCA2 testing; 13-215

Outcome Measures

Primary Outcomes (1)

• women's preferences with respect to the type of information they would like to receive from multiplex testing

  Proportions of subjects declaring a pre-test preference to receive 1) all available information, 2) all information related to breast cancer predisposition (whether or not clinical utility is established), 3) all information of established clinical utility (whether related to breast cancer risk or not), 4) only a subset of high-penetrance information (masking certain results), 5) no information.

  2 years

Study Arms (1)

history of breast cancer who have undergone BRCA1/2 testing

This is a single-arm observational study. Subjects with a history of breast cancer who have undergone BRCA1/2 testing and have received uninformative findings will enroll in this study, and then receive pre-test counseling for multiplex testing.

Behavioral: Pre-test Assessment; Behavioral: Pre test Counseling; Other: Blood draw; Behavioral: Post-test counseling, and post-test assessment; Behavioral: Follow-up assessments (6 and 12 months)

Interventions

Pre-test Assessment BEHAVIORAL

Subjects who consent to the study will complete a pre-test instrument that elucidates their baseline response to genetic testing (BRCA1/2) as measured by the Multidimensional Impact of Cancer Risk Assessment (MICRA), and their current cancer surveillance and prevention behaviors, as well asintentions to undergo surveillance and prevention in the next 6 months. The instrument will either be completed at the time of the counseling for multiplex testing, or by phone within approximately 7 days of sample donation.

history of breast cancer who have undergone BRCA1/2 testing

Pre test Counseling BEHAVIORAL

Subjects will receive appropriate pre-test counseling that will describe the range of outcomes that may results from the multiplex testing. The subject will be asked for permission to audiotape the session for later qualitative review. An outline of the pretest counseling that will be provided. In addition to a description of the genes and syndromes being tested, subjects will receive specific education regarding the following categories and subcategories of possible results a. Definitive (informative) results, b. Variants of uncertain clinical significance (VUCS), c. Uninformative negative test results, d. d. Incidental results. Then Post-counseling selection of desired information After counseling, subjects will complete an instrument indicating which genetic test results they wish to receive. They will complete this instrument in the presence of a genetic counselor, so that the subject may ask questions in order to make the choice most consistent with their preferences.

history of breast cancer who have undergone BRCA1/2 testing

Blood draw OTHER

After choosing the information they wish to receive, subjects will provide a blood sample (2 x 7 cc EDTA tubes, which will be sent to Myriad Genetics Laboratory for analysis.

history of breast cancer who have undergone BRCA1/2 testing

Post-test counseling, and post-test assessment BEHAVIORAL

When results are available, subjects will be asked to return for in-person communication of the results. Results will be disclosed after confirmation of information preferences in a standard genetic counseling session.

history of breast cancer who have undergone BRCA1/2 testing

Follow-up assessments (6 and 12 months) BEHAVIORAL

At 6 and 12 months post-results transmission (+/- 4 weeks), subjects will be contacted by telephone by the study RSA to complete follow-up instruments (Assessments 3 and 4; They will complete, by phone, the MICRA. They will also describe the surveillance and prevention behaviors of the preceding 6 months, and their intentions for the next 6 months. Subjects who express a high degree of distress will be offered referral to the Counseling Service, facilitated by Dr. Hay.

history of breast cancer who have undergone BRCA1/2 testing

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients will also be eligible if they are referred to the MSKCC Clinical Genetics Service from outside providers after receiving negative full sequence BRCA1/2 results from those outside providers.

You may qualify if:

• Male or Female age 18 or older
• Personal history of breast cancer AND one of the following:
• Invasive breast cancer or DCIS diagnosed at or before age 45 Invasive breast cancer diagnosed at/before age 50 with one or more of the following:
• Limited family history (Fewer than 2 first- or second-degree female relatives in the same lineage that lived to age 45. The "limited family history" can occur on either the maternal or paternal side of the family.)
• or more first-/second-degree relatives with invasive BC at/before 50
• or more first-/second-degree relatives with invasive epithelial ovarian cancer (any age)
• or more first- or second-degree relatives with male breast cancer
• or more first- or second-degree relatives with pancreas cancer
• Invasive breast cancer diagnosed at or before age 60 with at least 2 first or second-degree relatives affected with any combination of invasive breast cancer before age 50, invasive epithelial ovarian cancer at any age, male breast cancer, or pancreas cancer.
• Full sequence BRCA1 and BRCA2 testing completed with no deleterious mutation identified.

You may not qualify if:

• Unable to provide informed consent for testing
• Unable to complete English language questionnaire

Sponsors & Collaborators

• Memorial Sloan Kettering Cancer Center: lead

Study Sites (1)

Memorial Sloan Kettering Cancer Center

New York, New York, 10065, United States

Location

Related Links

• Memorial Sloan-Kettering Cancer Center

Biospecimen

Retention: SAMPLES WITH DNA

blood sample

MeSH Terms

Conditions

Breast Neoplasms

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Mark Robson, MD

  Memorial Sloan Kettering Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 19, 2013
• First Posted: November 25, 2013
• Study Start: November 1, 2013
• Primary Completion: December 1, 2017
• Study Completion: December 1, 2017
• Last Updated: December 5, 2017

Record last verified: 2017-12

Locations

US (1)