FDA approves Helix’s Alzheimer’s disease risk test app

FDA approves Helix’s Alzheimer’s disease risk test app. The Helix laboratory platform is the first whole exome sequencing platform approved by the FDA. Recently, the Helix laboratory platform whole exome sequencing was approved by the US Food and Drug Administration (FDA). The platform can cover approximately 20,000 genes . In addition, Helix has also obtained a 510(k) license for the Helix® genetic health risk APP for late-onset Alzheimer’s disease, which can directly provide consumers with relevant genetic risk tests.

The Helix laboratory platform is a qualitative in vitro diagnostic device for exome sequencing and detection of single nucleotide variants (SNV) in human genomic DNA extracted from saliva samples collected from Oragene®•Dx OGD-610 ) And small insertions and deletions. It is designed to be used in conjunction with FDA-approved specific germline testing and runs in Helix’s CLIA/CAP laboratory in San Diego, California.

The analysis and verification of the sequencing platform uses a new representative sampling method combined with strict quality indicators to ensure the accuracy and repeatability of the equipment, and finally verify these quality indicators in thousands of clinical samples. Quality indicators include sequencing coverage, but also deletions or difficult to identify regions in the genome that are known to be difficult to sequence. Use quality indicators to determine the potential accuracy of data points. Finally, a broad genome belonging to this type of representative sample is provided. However, certain types of mutations, especially general copy number abnormalities, are not covered under the current approval, although they may become important over time.

Dr. James Lu, co-founder and president of Helix, said that over time, Helix will add relevant content from the perspective of applications and technical performance. Although the current approval is only for exome sequencing, not Helix’s Exome+ analysis (which includes clinical exomes and approximately 300,000 informational non-coding regions and mitochondrial genomes), the same verification method can be used in the future. Extensive analysis, including whole-genome sequencing. At present, until the price of whole-genome sequencing falls further, Helix will still insist on exome-based analysis.

Helix Genetic Health Risk APP (HRA) uses qualitative genotyping technology to detect clinically relevant mutations in genomic DNA isolated from the saliva of Oragene®•Dx OGD-610 ≥18 years of age to assess genetic health risks ( GHR). Alzheimer’s disease testing can determine the e2/e2, e2/e3, e3/e3, e2/e4, e3/e4 ​​and e4/e4 genotypes in the APOE gene, and report whether the results are related to the development of delayed Al The risk of Zheimer’s disease is increased or decreased. Among them, e2 and e4 mutations have been discovered and studied in many races. Especially in people of European descent, there are already a lot of detailed risk assessment data. HRA will be used with the Helix laboratory platform.

The Helix laboratory platform is the first whole-exome sequencing platform approved by the FDA, which opens up a new regulatory path for the whole-exome sequencing equipment (21 CFR 866.6000). This landmark platform and its first test market access have created a clear regulatory path for Helix’s “Sequence Once, Query Often™” (Sequence Once, Query Often™) model. Helix and its partners can use a subset of the sequencing data generated by the Helix laboratory platform, and use this as a starting point for case development and seek future market requirements for more tests (cancer, cardiovascular disease and carrier screening).

Dr. James Lu said that becoming the first company to gain such a wide range of market access based on sequencing platforms is an important milestone for Helix and the genomics industry. Studies have shown that many people are at high genetic risk, but through genetic screening, these diseases can be prevented. This pioneering market access will greatly accelerate the application of genomic medicine, and provide patients with personalized precision medicine and improve outcomes.

Helix CEO Marc Stapley said that we are very pleased to create this new regulatory approval pathway to help health systems, life science companies and investors accelerate the process of genome discovery from the laboratory to the clinic.

(source:internet, reference only)

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