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

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by Memorial Sloan-Kettering Cancer Center
Sponsor:
Information provided by (Responsible Party):
Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier:
NCT01992471
First received: November 19, 2013
Last updated: May 19, 2014
Last verified: May 2014
  Purpose

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.


Condition Intervention
Breast Cancer
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)

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Multiplex Testing for Breast Cancer Susceptibility: A Pilot Study of Subject Preferences for Information and Responses After Testing

Resource links provided by NLM:


Further study details as provided by Memorial Sloan-Kettering Cancer Center:

Primary Outcome Measures:
  • women's preferences with respect to the type of information they would like to receive from multiplex testing [ Time Frame: 2 years ] [ Designated as safety issue: No ]
    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.


Secondary Outcome Measures:
  • psychological impact of multiplex genetic testing over time [ Time Frame: 2 years ] [ Designated as safety issue: No ]
    based on feedback preference (one of four choices), we will examine MICRA scores across time (and the GAD7 and PHQ9) using hierarchical linear modeling (HLM; Raudenbush & Bryk 2002).


Biospecimen Retention:   Samples With DNA

blood sample


Estimated Enrollment: 200
Study Start Date: November 2013
Estimated Primary Completion Date: November 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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
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.
Behavioral: Pre test Counseling
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.
Other: Blood draw
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.
Behavioral: Post-test counseling, and post-test assessment
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.
Behavioral: Follow-up assessments (6 and 12 months)
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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.

Criteria

Inclusion Criteria:

  • 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.)
  • 1 or more first-/second-degree relatives with invasive BC at/before 50
  • 1 or more first-/second-degree relatives with invasive epithelial ovarian cancer (any age)
  • 1 or more first- or second-degree relatives with male breast cancer
  • 2 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.

Exclusion Criteria:

  • Unable to provide informed consent for testing
  • Unable to complete English language questionnaire
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01992471

Contacts
Contact: Mark Robson, MD 646-888-5434
Contact: Kenneth Offit, MD, PhD 646-888-4050

Locations
United States, New York
Memorial Sloan-Kettering Cancer Center Recruiting
New York, New York, United States, 10065
Contact: Mark Robson, MD    646-888-5434      
Contact: Kenneth Offit, MD, M.P.H    646-888-4050      
Principal Investigator: Mark Robson, MD         
Sponsors and Collaborators
Memorial Sloan-Kettering Cancer Center
Investigators
Principal Investigator: Mark Robson, MD Memorial Sloan-Kettering Cancer Center
  More Information

Additional Information:
No publications provided

Responsible Party: Memorial Sloan-Kettering Cancer Center
ClinicalTrials.gov Identifier: NCT01992471     History of Changes
Other Study ID Numbers: 13-215
Study First Received: November 19, 2013
Last Updated: May 19, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Memorial Sloan-Kettering Cancer Center:
BRCA1 testing
BRCA2 testing
13-215

Additional relevant MeSH terms:
Breast Neoplasms
Disease Susceptibility
Neoplasms by Site
Neoplasms
Breast Diseases
Skin Diseases
Disease Attributes
Pathologic Processes

ClinicalTrials.gov processed this record on July 28, 2014