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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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ORAcollect®•Dx is intended for the collection of saliva samples for diagnostic testing of human DNA. Saliva samples may be collected by a healthcare professional or non-healthcare professional, such as a lay user. Saliva samples collected using ORAcollect®•Dx are stabilized and isolated for use in downstream diagnostic testing applications. Saliva samples collected using ORAcollect®•Dx can be transported and/or stored at ambient conditions.

ORAcollect® Dx family of collection devices offers reliable collection, transportation and longterm ambient temperature storage of human DNA from saliva. ORAcollect® • Dx devices are a minimally invasive alternative for collecting high quality and quantity DNA for use with prescription and over-the-counter (direct-to-consumer) diagnostic testing applications.

ORAcollect® • Dx consists of a collection tube containing a stabilizing liquid and a double ended cap with an integrated sponge used to collect a saliva sample. Using provided instructions for use, saliva collection can take place in a laboratory setting, physician's office, at home, or in the field. Untrained (naïve) or professional users can carry out saliva collection.

After saliva is collected, the stabilizing liquid is mixed with the sample. Upon contacting saliva cells, the stabilizing liquid lyses cellular and nuclear membranes to release and stabilize nucleic acids (DNA). Samples can be immediately processed, transported or stored for future use.

ORAcollect-Dx device pre-collection shelf life is 24 months at room temperature (15°C to 25°C) from the date of manufacture. Post collection, ORAcollect·Dx samples are stable at room temperature for up to 60 days. ORAcollect-Dx device and sample integrity are preserved during typical ambient transport and storage conditions.

ORAcollect®●Dx saliva collection devices are suitable for use with prescription and over-the-counter (direct-to-consumer) downstream diagnostic testing applications, systems or platforms. Test or assay manufacturers must validate the use of ORAcollect®●Dx for their specific indications for use. Using DNA obtained from an ORAcollect®•Dx sample, laboratory testing is performed on genotyping systems or platforms in a CLIA (Clinical Laboratory Improvement Amendments) certified laboratory.

The provided text does not contain specific acceptance criteria with numerical thresholds or a detailed study description that directly proves the device meets those criteria in a standard "table of acceptance criteria and reported device performance" format.

Instead, the document focuses on demonstrating substantial equivalence to a predicate device (Oragene®•Dx) and refers to various performance characteristics and previously evaluated studies (listed by k-number) that support the ORAcollect®•Dx device's performance.

However, based on the information provided, I can infer and summarize relevant details for each requested point:

1. A table of acceptance criteria and the reported device performance

Since explicit numerical acceptance criteria are not presented in the provided text, I will construct a table based on the discussed performance characteristics and the device's demonstrated suitability or equivalence. The "Reported Device Performance" will indicate that the device met the implied performance expectations by referring to the successful outcomes of the mentioned studies or equivalence claims.

2. Sample size used for the test set and the data provenance

The document references several previous 510(k) submissions (K152464, K152612, K192858, k21115, K221420) for the detailed studies. However, the exact sample sizes for the test sets in these underlying studies are not explicitly provided in this document.

For the "Over-the-Counter (Direct-to-Consumer) Use" study mentioned:

• Sample Size: "potential users enrolled in usability studies" and "each study sample" refers to participant samples, but no specific number is given.
• Data Provenance: The study involved users collecting samples "at home" and mailing them to a "CLIA certified laboratory" for assessment. This indicates prospective, real-world data collection in a consumer setting. No specific country of origin is mentioned, but DNA Genotek Inc. is based in Ottawa, Ontario, Canada, and the FDA review is for the U.S. market, suggesting a North American context.

3. Number of experts used to establish the ground truth for the test set and the qualifications of those experts

This information is not provided in the text. The document refers to "genotyping systems or platforms in a CLIA certified laboratory" and comparison to "gold standard bidirectional sequencing" for method comparison, implying established laboratory procedures as the ground truth.

4. Adjudication method for the test set

This information is not provided in the text. Given the nature of the device (saliva collection kit for DNA), adjudication in the context of expert review of images or diagnoses is not directly applicable in the same way as for imaging AI. Instead, the "ground truth" would be established through laboratory analyses.

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

An MRMC comparative effectiveness study is not applicable to this device. This device is a saliva collection kit, not an AI algorithm assisting human readers in diagnostic interpretation.

6. If a standalone (i.e. algorithm only without human-in-the-loop performance) was done

This question is not applicable as the device is a physical collection kit, not an algorithm. Its performance is evaluated on its ability to collect and stabilize DNA for subsequent laboratory testing, not on standalone interpretive capabilities.

7. The type of ground truth used

The ground truth for evaluating the ORAcollect®•Dx device's performance is primarily based on:

• Laboratory-based analytical results: DNA concentration, purity, and successful genotyping after extraction from the collected saliva.
• Comparison to "gold standard" methods: For instance, "gold standard bidirectional sequencing" for genotyping accuracy (as mentioned for method comparison studies in K152612 and K192858).
• Compliance and physical assessment: For the over-the-counter use, ground truth involved assessing compliance to collection instructions, sample volume, and DNA concentration by a CLIA-certified laboratory.

8. The sample size for the training set

The document describes performance evaluation (test-set like activities) rather than the development of an algorithm requiring a "training set." Therefore, information on the "training set" sample size is not applicable/provided.

9. How the ground truth for the training set was established

As explained in point 8, the concept of a "training set" for this type of device is not applicable. The ground truth is established through standard laboratory and analytical methods as detailed in point 7 for performance evaluation.

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