A medical device that employs genetic analysis to evaluate an individual’s risk of developing specific cancers by identifying particular mutations in their DNA. This process essentially assesses the genetic predisposition to cancer by examining variations in genes associated with cancer within a DNA sample. The resulting information is generally utilized to inform preventive strategies and tailor treatment plans for individuals identified as being at high risk.

Intended Use of Cancer Predisposition Risk Assessment System

A qualitative in vitro molecular diagnostic Cancer Predisposition Risk Assessment System used for the detection of select variants in specified cancer-related genes. The device is intended to be used on genomic DNA isolated from human specimens collected by the user. The results of the test provide users with a genetic health risk assessment for developing certain cancers. The test may not include all variants associated with a predisposition of developing cancer and is not intended to describe a person’s overall risk of developing any type of cancer nor to aid in determination of treatment or act as a substitute for recommended cancer screenings or appropriate follow-up. The device is for over-the-counter use.

Intended Use:

The devices use qualitative genotyping to detect clinically relevant genomic DNA variants in human saliva, reporting genetic health risks, including the 23andMe PGS Genetic Health Risk Report for Hereditary Prostate Cancer (HOXB13-Related).

Device Description:

The test system consists of reagents, instrumentation, software, and instructions needed to understand the test report. The test system includes a collection device, instructions for collecting the specimen, and a pre-addressed shipping label and materials. Should not include tests intended for prescription use, intended to aid in diagnosis or prognosis of cancer, or intended to make or recommend treatment decisions. The test system uses multiplex technology to amplify, detect, and identify nucleic acid variants located in specified genes associated with hereditary cancer risk. Variants are identified by comparison to a specified reference sequence, and genetic risk assessment of developing certain cancers is based on scientifically established disease-risk association for each variant. The test is intended to be used as a direct-to-consumer, over-the-counter genomic DNA testing service. Saliva samples are collected using the Device, DNA is isolated and tested in a multiplex assay using Illumina’s genotyping beadchip, reagents, and instrumentation. Personalized reports are generated for each user, providing information about the detected genotype and associated diseases. These reports are designed to help users understand the results and take appropriate actions.

The device components include:

• Saliva collection device
• Beadchip
• Beadpool
• Scan instrument and software.

Performance Testing (Analytical-Non-Clinical) for Cancer Predisposition Risk Assessment System

• Stability Studies
• Accuracy
• Precision/Reproducibility
• Analytical Sensitivity
• Software Verification and Validation studies

Clinical Testing:  Required for 510k submission.