TURBO: Use of an Ultra-rapid BRCA1/2 Status Screening Test in Theranostic Indication: Performance and Interest for Patients and Practitioners
Study Details
Study Description
Brief Summary
The time taken to obtain the results of germline mutations in BRCA1 and BRCA2 has become a major issue in adapting the therapeutic management of patients, particularly those with breast cancer.
The time taken to obtain the results of BRCA1/2 tests in routine laboratories with a view to personalised treatment can range from a few weeks to a few months. The waiting time required to obtain results is likely to cause stress and anxiety in cancer patients. The investigators hypothesise that ultra-rapid testing can reduce anxiety about patients' genetic status and improve their mental well-being.
The main objective of this project is to compare the results obtained with an ultra-fast kit developed by O.N.T with those obtained with the current gold standard, NGS sequencing.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Standard arm Analysis carried out using the gold standard with BRCA1/2 results provided on average in 2 months + ultrafast BRCA1/2 test (nanopore test) with no communication of results to the patient at 1-2 weeks. |
Other: Questionnaires
3 questionnaires to allowed to assess satisfaction and acceptance of the nanopore ultrafast test by practitioners and anxiety of results by patients :
STAI-Y (State-Trait Anxiety Inventory)
Patient's Questionnaire
Practitioner's questionnaire
|
| Experimental arm Analysis carried out using the gold standard with BRCA1/2 results provided in an average of 2 months + ultra-rapid BRCA1/2 test (nanopore test) with results communicated to the patient in 1-2 weeks. This communication will be accompanied by the necessary explanations to enable the patient to understand that this is a preliminary result and that only the gold standard will constitute a definitive result. |
Other: Questionnaires
3 questionnaires to allowed to assess satisfaction and acceptance of the nanopore ultrafast test by practitioners and anxiety of results by patients :
STAI-Y (State-Trait Anxiety Inventory)
Patient's Questionnaire
Practitioner's questionnaire
Other: Communication of the results of the BRCA1/2 ultra rapid test
Communication of the results of the BRCA1/2 ultra rapid test during a consultation 1 to 2 weeks after the test
|
Outcome Measures
Primary Outcome Measures
- Compare the results obtained with an ultra-rapid kit BRCA1/2 with those obtained with the current gold standard, by checking the sensitivity, specificity and the rate of patients correctly classified for BRCA1 and 2 status [During 2 months]
The main objective will be to determine the rate of misclassified patients by pooling the 2 arms, false positives and false negatives. True positives (VP) : patients presenting a BRCA 1 or 2 mutation with the ultrafast BRCA1/2 test and the gold standard. False positives (FP) : patients with a BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and no BRCA 1 or 2 mutation using the gold standard. True negatives (VN) : patients with no BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and the gold standard. False negatives (FN) : patients without a BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and with a BRCA 1 or 2 mutation using the standard test. WELL classified = VP + VN, poorly classified= FP+ FN FPs will generate anxiety, and FNs will lead to a loss of chance for patients if the ultrafast BRCA1/2 test (nanopore test) is used exclusively instead of the gold standard. The overall number of misclassified patients must therefore be limited.
Secondary Outcome Measures
- Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test [During 2 months]
Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test (nanopore test) compared with the standard BRCA1/2 test (gold standard).
- To assess the impact on patients' mental well-being (anxiety or reassurance) using the State-Trait Anxiety Questionnaire (STAI-Y) [During 2 months]
Anxiety will be assessed in each arm using the State-Trait Anxiety Questionnaire (STAI-Y) at 4 different time points: After the patient has not objected to taking part in the TURBO study at the first consultation (before randomization); 1-2 weeks after inclusion. The questionnaire will be e-mailed to patients. The questionnaire must be completed before the results of the BRCA1/2 ultrafast test (nanopore test) are communicated to patients in the experimental group. 4 weeks after inclusion. The questionnaire will be sent by email. 8 weeks after inclusion, during the consultation for the communication of test results with the gold standard, before the communication of results.
- Evaluate clinician satisfaction with satisfaction scale used in genetic counselling [During 2 months]
Clinician satisfaction (oncogeneticist and oncologist) and acceptance of the BRCA1/2 ultrafast test (nanopore test) will be evaluated in both arms using a questionnaire to assess clinician satisfaction at 2 different times for each practitioner involved in patient follow-up: When the first patient is unopposed; At the last patient's discharge.
- Evaluate patient satisfaction used in genetic counselling [During 2 months]
Patient satisfaction will be assessed in both arms using a satisfaction scale used in genetic counselling at two different times: After the patient has made no objection to participating in the TURBO study during the first consultation (before randomization); 8 weeks after inclusion, before the consultation for the gold standard test results.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Age ≥ 18 years
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Indication for oncogenetic consultation with a wide panel test including BRCA1/2 (gold standard) as part of the standard theranostic management of breast cancer.
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The patient agrees to take part in the study, to follow all the study procedures and to complete the questionnaires sent during the consultation or by email.
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Diagnosis of the disease ≤ 6 months
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The patient must be affiliated to the social security system.
Exclusion Criteria:
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Concomitant disorder or condition likely to compromise understanding of study information or completion of questionnaires
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Patients who do not have an email address and/or do not have internet access or tools to connect to the internet
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Women who are pregnant, may become pregnant or are breast-feeding
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Persons deprived of their liberty or under guardianship (including curatorship)
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Inability to undergo trial monitoring for geographical, social or psychological reasons.
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- Centre Georges Francois Leclerc
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 2023-A02176-39