Evaluating Cascade Communication Methods

NCT04428736 | Completed

• 1 other identifier: 833635
• Study Type: observational
• Target: 52
• Locations: 1 country
• Sites: 1

Brief Summary

Hereditary cancer programs face challenges with respect to effective communication of genetic test results within families and uptake of genetic testing by relatives. This study aims to determine if a "disclosure toolkit" provided to the index participant (carrier of cancer risk gene mutation) contributes to sharing genetic test results with relatives, if there are preferred disclosure methods, and whether toolkit use contributes towards at-risk relatives pursuing genetic testing.

Conditions

BRCA1 Mutation; BRCA2 Mutation

Keywords

BRCA1; BRCA2; Cascade testing

Outcome Measures

Primary Outcomes (2)

• Impact of Toolkit use on sharing genetic test results with at-risk relatives

  Determine if a "Disclosure Toolkit" contributes to participant sharing of genetic test result with at-risk relatives, and if so, which method is most useful for aiding in communication of results and decisions to undergo genetic counseling and testing.

  1 year

• Impact of Toolkit use on at-risk relatives pursuing genetic testing

  Determine if a "Disclosure Toolkit" impacts the rate of genetic testing by at-risk relatives in comparison to rates of genetic testing by relatives consistently reported in the literature.

  1 year

Secondary Outcomes (2)

• Barriers to sharing genetic test results with at-risk relatives

  1 year

• Barriers inhibiting uptake of genetic testing by informed at-risk relatives

  1 year

Interventions

Disclosure Toolkit BEHAVIORAL

Participants will receive a "Disclosure Toolkit" consisting of a family letter, gene information chatbot, and informational website to aid in communicating their genetic test results with at-risk relatives.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be ascertained through the clinical genetics programs at Penn Medicine (Mariann and Robert MacDonald Cancer Risk Evaluation Program, "CREP," the Gastrointestinal Cancer Risk Evaluation Program, "GI CREP," and Penn Telegenetics). Participants will be clinical patients identified to be a carrier of a high risk cancer predisposition gene mutation as determined by the study team. Participants will have been through a formal pre-test genetic counseling consultation and will be approached for study enrollment at time of result disclosure (either telephone or in-person) - also known as the "post-test" visit. Disclosure of genetic test results will be facilitated by a participating genetic counselor.

You may qualify if:

• years of age and older
• Proband must be carrier of a high risk cancer predisposition gene
• Relative must be established relative of respective proband participant and deemed "at-risk" for familial gene mutation and eligible genetic testing candidate as per study team determination
• Participants must be able to understand and read English
• Participants must be able to provide informed verbal or written consent

You may not qualify if:

• \<18 years of age
• Individuals who are mutation negative for high risk cancer predisposition genes
• Individuals who are carriers of a variant of uncertain significance in any gene
• Individuals who test positive for more than 1 high risk cancer predisposition gene
• Individuals who cannot speak and read English
• Individuals who do not have any at-risk relatives (eligible for familial gene mutation testing) as per study team determination
• Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation
• Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff
• No available family members for cascade opportunity (adoption, estrangement, etc.)

Sponsors & Collaborators

• University of Pennsylvania: lead

Study Sites (1)

Abramson Cancer Center

Philadelphia, Pennsylvania, 19104, United States

Location

Study Officials

• Susan M Domchek, MD

  Penn Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 22, 2020
• First Posted: June 11, 2020
• Study Start: February 19, 2020
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: April 16, 2026

Record last verified: 2026-04

Locations

US (1)