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

Condition(s) studied

Investigational drug(s) / intervention(s)

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

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

Study 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.

Eligibility

Primary outcome measure(s)

• 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.

Trial sites (2)

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