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The AlphaID™ At Home Genetic Health Risk Service uses qualitative genotyping to detect clinically relevant genetic variants associated with alpha-1 antitrypsin deficiency (AATD) in genomic DNA isolated from human saliva collected from individuals ≥ 18 years with ORAcollect Dx OCD-100.014 for the purpose of reporting and interpreting Genetic Health Risks (GHR).

This Service is indicated for reporting 14 genetic variants in the SERPINA1 gene: PIS; PIM procida; PIM malton; PIS iiyama; PIQ0 granite falls; PIQ0 west; PIQ0 bellingham; PIF; PIQ0 mattawa; PIQ0 clayton, and PI*M heerlen. The report describes if a person is at an increased risk of developing either liver disease linked to AATD. The report does not describe a person's overall risk of developing lung and/or liver disease. AATD is more common in persons of European descent.

The AlphaID™ At Home Genetic Health Risk Service (AlphaID At Home) uses qualitative genotyping to detect clinically relevant genetic variants associated with alphal-antitrypsin deficiency (AATD) and provides a report describing if a person is at risk of developing either lung and/or liver disease linked to AATD. This Service is direct-to-consumer and intended for an Over-the Counter (OTC) use.

The AlphaID™ At Home Genetic Health Risk Service is composed by AlphaID™ At Home Saliva Collection kit for human saliva sample collection (ORAcollect®·Dx OCD-100.014), A1AT Genotyping Test for the genetic analysis and detection of genetic variants associated with alpha-1 antitrypsin deficiency (AATD), and AlphaID™ At Home Genetic Health Risk Service website and result portal software to provide the contents and the procedure to order and use the over the counter (OTC) Service.

A consumer's saliva is self-collected using custom version ORAcollect Dx (model OCD-100.014) device manufactured by DNA Genotek, Inc (See K212745) which consists of collection tube containing a stabilizing buffer solution. Once the sample is collected, it is shipped to Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory for processing.

Human DNA from the saliva sample is isolated and processed with the A1AT Genotyping Test device (K211115) that provides results on 14 genetic variants in the SERPINA / gene: PIS; PIZ; PIM procida; PIM malton; PIS iiyama; PIO0 granite falls: PIO0 west: PIO0 bellingham: PIF; PIP lowell; PIO0 mattawa; PIQ0 clayton, and PI*M heerlen.

Briefly, genomic DNA extracted from human saliva is amplified and biotinylated by multiplex PCR and PCR products are denatured and hybridized to oligonucleotide probes coupled to color-coded beads. Hybridized DNA is labeled with a fluorescent conjugate and the resulting signal is detected with a Luminex® 200™ system. Raw fluorescence data is processed with the A1AT Genotyping Test ANALYSIS SOFTWARE to provide allelic variant genotypes, which are subsequently converted into associated alleles, based on current scientific evidence. Additionally, the software application also provides the type of Genetic Health Risk Report associated with the identified alleles, which is subsequently used as the basis for the generation of personalized reports by the AlphaID™ At Home Genetic Health Risk Service website and result portal.

Depending on the specific variant combination detected, the AlphaID™ At Home Genetic Health Risk Service provides the individuals' genetic health risk for developing lung and liver disease linked to AATD. Personalized reports, in an easy-to-understand format are generated for each consumer that provide results of the testing performed.

Here's a breakdown of the acceptance criteria and study information for the AlphaID™ At Home Genetic Health Risk Service, based on the provided text:

1. Table of Acceptance Criteria and Reported Device Performance

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

• Analytical Performance (Method Comparison with Bi-Directional Sequencing):

  • Sample Size: 227 samples
  • Data Provenance: Saliva samples collected in ORAcollect·Dx OCD-100.014. The document does not explicitly state the country of origin or if they were retrospectively collected or prospectively collected. However, the study "assessed the accuracy of A1AT Genotyping Test to correctly detect the genetic variants," suggesting these were samples with known or established variant status used for validation.

• Analytical Performance (CLIA-Certified Laboratory Verification Study):

  • Sample Size: 110 samples
  • Data Provenance: Saliva samples collected with AlphaID™ At Home Saliva Collection kit in an over-the-counter (OTC) environment. The document implies these were collected for the purpose of this study. No country of origin is explicitly stated.

• User Comprehension Study:

  • Sample Size: 525 participants (after exclusion)
  • Data Provenance: A demographically diverse US population of naïve users. These were prospectively recruited for the study.

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

• Analytical Performance (Method Comparison):

  • Ground Truth Method: Bi-Directional-Sequencing (BDS) was used as the reference method. This is a molecular gold standard technique.
  • Experts: The document does not specify the number or qualifications of experts involved in performing or interpreting the Bi-Directional-Sequencing. This method is typically performed by trained laboratory personnel.

• Clinical Performance (Risk Categorization):

  • Ground Truth Method: The risk categorization is based on "reported clinical cases (published references) for each genetic result."
  • Experts: No specific number or qualifications of experts are cited for establishing the ground truth directly for this study. Instead, the study relies on the collective scientific and medical consensus embedded in published literature.

4. Adjudication Method for the Test Set

• Not applicable as there is no mention of human adjudication in the context of establishing ground truth for the analytical and clinical performance studies described. The analytical studies primarily compared the device's results to a technical gold standard (Bi-Directional Sequencing).

5. If a Multi-Reader Multi-Case (MRMC) Comparative Effectiveness Study was Done

• No, an MRMC comparative effectiveness study was not done. The performance studies focused on the accuracy of the device itself and user comprehension of its reports, not on how human readers' performance improves with or without AI assistance. The device is a direct-to-consumer genetic health risk service, not an AI-assisted diagnostic tool for medical professionals.

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

• Yes, performance studies were conducted in a standalone manner for the device's genotyping capabilities.
  • The "Method Comparison with Predicate" study directly compares the device's genetic variant detection to Bi-Directional Sequencing.
  • The "CLIA-Certified Laboratory Verification Study" confirms the analytical procedure's performance by the designated lab using the A1AT Genotyping Test.
  • The "A1AT Genotyping Test ANALYSIS SOFTWARE" processes raw data to provide allelic variant genotypes and associated GHR, indicating an algorithmic, standalone component.
  • The service as a whole includes human components (sample collection, lab processing), but the core genetic analysis and risk interpretation by the software/algorithm is evaluated independently against established methods.

7. The Type of Ground Truth Used

• Analytical Ground Truth: Bi-Directional-Sequencing (BDS) was used as the reference method for confirming genetic variants. This is a scientific gold standard for DNA sequencing.
• Clinical Ground Truth: "Reported clinical cases (published references)" were used to establish the risk categorization associated with various genetic results. This represents expert consensus and outcomes data derived from scientific literature.

8. The Sample Size for the Training Set

• The document does not provide information on the sample size used for the training set. Given that the device performs qualitative genotyping for known genetic variants, it is likely that the "training" (or development/optimization) process would have involved samples with known genotypes for these specific variants, but no specific dataset or size is listed. The analytical performance studies serve as a validation of the device against a reference method rather than demonstrating the learning process of an AI model on a training set.

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

• This information is not provided in the document. For genetic variant detection, ground truth for development/training samples would typically be established using established molecular methods such as Sanger sequencing (Bi-Directional Sequencing, as used in the validation) or other validated genotyping techniques at the time of the assay's development.

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