Increasing Uptake of Cascade Testing in Families With Familial Cancer Syndromes: A Randomized Controlled Trial of a Registry-aided Model.

NCT07626814 | Completed

• 1 other identifier: 202104-00097
• Study Type: interventional
• Target: 545
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to compare the uptake rates of a patient-initiated model of cascade testing with a registry-aided model amongst relatives of patients identified to have a particular cancer predisposition gene. Cascade testing allows the benefits of genetic testing to spread beyond the patient and enables other family members to make an informed choice on genetic testing. The researcher team hopes to study the rates of cascade testing using the two models, while concurrently comparing the adherence of identified carriers to risk management recommendations, including surveillance imaging and/or prophylactic surgeries. The team also aims to understand the willingness, acceptability and barriers of a registry-aided model.

Conditions

Hereditary Cancer Syndromes

Keywords

Cascade genetic testing; Familial cancer syndromes; Genetic counselling; Cancer genetics; Registry-based intervention; Precision medicine; Preventive genomics; Genetic testing uptake; Randomized controlled trial; Population health

Outcome Measures

Primary Outcomes (1)

• Uptake of cascade genetic testing.

  Proportion of at-risk FDRs who attend pre-test counselling and undergo cascade testing.

  Up to 6 months after proband randomisation.

Secondary Outcomes (1)

• Barriers to cascade testing.

  Through study completion, estimated up to 6 months.

Study Arms (2)

Control arm: Proband-dependent approach

OTHER

The conventional approach to cascade testing whereby probands are advised to relay their genetic information to relatives and encourage them to see a genetic counsellor for discussion on predictive genetic testing. Family letters are given to probands to help disseminate this information.

Other: Proband-dependent approach

Proband-dependent with registry-reminders approach

EXPERIMENTAL

A registry-aided outreach to family members of probands to bypass the barriers inherent with the proband-dependent approach.

Other: Combination of the proband-dependent approach with additional registry-aided testing reminders

Interventions

Proband-dependent approach OTHER

Probands assigned to the control arm will be offered family letters to distribute to their at-risk relatives (ARRs). These family letters encourage relatives to see a general practitioner for a referral to genetic counselling and cascade testing.

Also known as: Traditional approach; current standard of care

Control arm: Proband-dependent approach

Combination of the proband-dependent approach with additional registry-aided testing reminders OTHER

Like the control arm, probands will be given the same family letters to distribute to their ARRs. In addition, a genetics coordinator will contact their first-degree relatives (FDRs) by phone/ email to inform them about genetic testing and advise them to obtain a referral from a general practitioner. The coordinator will remind relatives of their eligibility for genetic testing and assist them with queries at 1, 3, and 6 months after initial contact. Upon visiting for pre-test genetic counselling, FDRs will be further invited to provide contact details of other untested.

Proband-dependent with registry-reminders approach

Eligibility Criteria

• Age: 21 Years - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Probands:
• Patients who undergo clinical genetic testing and seen at the Cancer Genetics Service (CGS) in National Cancer Centre Singapore
• Pathogenic variant/ likely pathogenic variant (PV/LPV) identified in a cancer predisposition gene
• Aged 21 years old and over
• Singapore citizen or permanent resident
• ARRs:
• ARRs of a proband
• Aged 21 years old and over
• Singapore citizen or permanent resident

You may not qualify if:

• Lacks capacity to consent
• Not living in Singapore
• Probands who decline to share relatives' contact details
• Probands with no contactable relatives in Singapore

Sponsors & Collaborators

• National Cancer Centre, Singapore: lead

Study Sites (1)

National Cancer Centre, Singapore

Singapore, 168583, Singapore

Location

MeSH Terms

Conditions

Neoplastic Syndromes, Hereditary

Condition Hierarchy (Ancestors)

Neoplasms; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Clin Asst Prof Chiang Jianbang, MBBS, MRCP (UK), MMed

  National Cancer Centre, Singapore

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: PARTICIPANT
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 19, 2026
• First Posted: June 4, 2026
• Study Start: December 10, 2021
• Primary Completion: February 6, 2026
• Study Completion: February 6, 2026
• Last Updated: June 4, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

SG (1)