Use of an Ultra-rapid BRCA1/2 Status Screening Test in Diagnostic and Theranostic Indication: Performance and Interest for Patients and Practitioners

Centre Georges Francois Leclerc150 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

150

Conditions

Breast Cancer

Interventions

QuestionnairesOTHER

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

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Age ≥ 18 years * Indication for oncogenetic consultation with a wide panel test including BRCA1/2 (gold standard) as part of the standard theranostic and diagnostic management of breast cancer. * 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. * Diagnosis of the disease ≤ 6 months * The patient must be affiliated to the social security system. Exclusion Criteria: * Concomitant disorder or condition likely to compromise understanding of study information or completion of questionnaires * Patients who do not have an email address and/or do not have internet access or tools to connect to the internet * Women who are pregnant, may become pregnant or are breast-feeding * Persons deprived of their liberty or under guardianship (including curatorship) * Inability to undergo trial monitoring for geographical, social or psychological reasons.

Outcomes

Primary Outcomes

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

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.

Time frame: During 2 months

Secondary Outcomes

Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test

Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test (nanopore test) compared with the standard BRCA1/2 test (gold standard).

Time frame: During 2 months

To assess the impact on patients' mental well-being (anxiety or reassurance) using the State-Trait Anxiety Questionnaire (STAI-Y)

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 - 12 weeks after inclusion, during the consultation for the communication of test results with the gold standard, before the communication of results.

Time frame: During 2 months

Evaluate clinician satisfaction with satisfaction scale used in genetic counselling

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.

Time frame: During 2 months

Evaluate patient satisfaction used in genetic counselling

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 - 12 weeks after inclusion, before the consultation for the gold standard test results.

Time frame: During 2 months

Use of an Ultra-rapid BRCA1/2 Status Screening Test in Diagnostic and Theranostic Indication: Performance and Interest for Patients and Practitioners

Overview

Conditions

Interventions

Eligibility

Locations (2)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts