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The eSensor® Cystic Fibrosis Carrier Detection System is a device for the detection of carrier status for cystic fibrosis for all adult couples contemplating pregnancy, regardless of ethnicity. It is a qualitative genotyping assay that simultaneously detects mutations currently recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists (ACMG/ACOG). The eSensor® CFCD System is not indicated for prenatal screening or to establish a diagnosis of cystic fibrosis.

The eSensor® Cystic Fibrosis Carrier Detection System is an in vitro diagnostic test for the detection and genotyping of a selected panel of 23 cystic fibrosis mutations from DNA isolated from human whole blood.

The CFCD System is a clinical multiplex genetic test system which includes reagents for polymerase chain reaction amplification, exonuclease digestion and hybridization of target DNA, instrumentation and software. The CFCD System uses electrochemical detection to determine the carrier status of patient blood specimens for the ACOG/ACMG recommended panel of 23 cystic fibrosis mutations. Sample preparation for genotyping involves converting each blood specimen into purified genomic DNA (gDNA); then using multiplex PCR amplification followed by exonuclease digestion to convert the gDNA into a set of single-stranded targets. The genotyping reaction is set up with the combination of the single-stranded targets with appropriate buffers containing allele-specific signal probes differentially labeled with electrochemical signaling molecules, called ferrocenes. This mixture is then loaded into cartridges that contain single-stranded capture probes bound to an array of electrodes, with each electrode containing capture probes specific for a single mutation. Cartridges are inserted into the eSensor® 4800 Instrument where the single-stranded targets hybridize to the complementary sequences of the capture probes and signal probes. Detection of the target/probe complexes is achieved using alternating current voltammetry that generates specific electrical signals from the hybridized signal probes. The eSensor® DNA Detection System Application Software then classifies the signals from each mutation and generates a report for each specimen that describes the carrier or non-carrier status of each of the cystic fibrosis panel mutations.

The Clinical Micro Sensors, Inc. eSensor® Cystic Fibrosis Carrier Detection System is a qualitative genotyping assay for the detection of carrier status for cystic fibrosis.

1. Table of Acceptance Criteria and Reported Device Performance

2. Sample Sizes Used for the Test Set and Data Provenance

• Method Comparison (Clinical Trial): 486 samples (freshly collected and banked).
  • Data Provenance: Not explicitly stated, but clinical trial suggests prospective and/or retrospective collection from a clinical setting. Country of origin not specified.
• Reproducibility: Genomic DNA samples from one non-carrier cell line and 20 carrier cell lines.
• Interfering Mutations: Not explicitly stated, likely a smaller, targeted set of DNA samples with these specific mutations.
• Input DNA Requirements: 96 tests for 10 ng gDNA, and samples up to 1,200 ng DNA in method comparison studies.

3. Number of Experts Used to Establish the Ground Truth for the Test Set and Qualifications of Those Experts

The ground truth was established by DNA sequencing, which is a laboratory method, not by experts. Therefore, the concept of "number of experts" and "qualifications of those experts" does not directly apply to the ground truth method.

4. Adjudication Method for the Test Set

Not applicable, as the ground truth was established by DNA sequencing, an objective laboratory method, not by human interpretation requiring adjudication.

5. If a Multi Reader Multi Case (MRMC) Comparative Effectiveness Study Was Done, If So, What Was the Effect Size of How Much Human Readers Improve with AI vs. Without AI Assistance

No, this device is a laboratory-based in vitro diagnostic system for genotyping, not an image-based AI system that would involve human readers or MRMC studies.

6. If a Standalone (i.e. algorithm only without human-in-the loop performance) Was Done

Yes, the "Method Comparison" study demonstrates the standalone performance of the eSensor® Cystic Fibrosis Carrier Detection System by comparing its results directly against DNA sequencing. The device's software classifies signals and generates a report without human interpretative input once the assay is run.

7. The Type of Ground Truth Used

The primary ground truth used for performance evaluation was DNA sequencing. For the "Interfering Mutations" section, the expected genotypes (based on known mutation characteristics) served as a form of ground truth.

8. The Sample Size for the Training Set

The document does not explicitly mention a distinct "training set" or its size. In a traditional genetic assay development context, internal assay optimization and validation would implicitly involve data used to refine parameters, but this is not typically referred to as a "training set" in the same way an AI/machine learning model would have one. The "Method Comparison" and "Reproducibility" data serve as the primary validation of the final device performance rather than a training set for an algorithm.

9. How the Ground Truth for the Training Set Was Established

As no explicit training set is detailed, this question is not fully applicable. However, for any internal development and optimization leading to the final assay, the establishment of ground truth would similarly involve established genetic testing methods, likely including DNA sequencing or synthetic DNA constructs with known mutations.

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