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

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.

Interventions

• 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

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 [Time frame: During 2 months]

Secondary outcome measures (4)

• Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test [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) [Time frame: During 2 months]
• Evaluate clinician satisfaction with satisfaction scale used in genetic counselling [Time frame: During 2 months]
• Evaluate patient satisfaction used in genetic counselling [Time frame: During 2 months]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model

Cohort

Study locations

France · 2 centers

• Centre Georges-François Leclerc — Dijon
• Institut Rafaël — Levallois-Perret

Identifiers

NCT: NCT06111417 · 2023-A02176-39

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗