More than 500 million people globally are suffering from a genomic disorder. An early diagnosis is critical to bring the most benefit to the quality of life and the overall prognosis of these patients. The difficulty with the large variety of different genomic disorders is that they have overlapping and atypical symptoms.

Finding the correct diagnosis is extremely difficult. Only a genomic test can unravel relevant mutations, also called pathogenic variants, and identify the cause of a disease. The human genome has a length of approximately 3.2 billion nucleotides, i.e. letters. But where would you look when you don’t know which part of your genome could be the cause of your symptoms? The most practicable solution: You directly check the entire genomic information in your cells, is what we call “whole genome”.

Whole Genome Sequencing (WGS) is the most modern solution to get our entire genomic information decoded. Arcensus calls its genomic testing exclusively “genomic” because we are one of the few companies globally that is offering solely the medical Whole Genome Sequencing directly to consumers. While the first deciphering of the human genome costed $3 billion, the costs are steadily decreasing due to progressing technologies. Today, we have reached a point where a WGS analysis is becoming affordable.

With myLifeDNA™, Arcensus offers the ideal package for all people that have:

1. Clinical symptoms of unknown reason
2. A high degree suspicion of a genomic disease
3. A positive family history for any genetically suspected problem
4. The wish just to get their genome analysed to have the best preventive data information

The strength in Arcensus’ approach is the combination of both the Whole Genome Sequencing analysis and the integration of the person’s clinical symptoms together with a life-long partnership.

• Only WGS analysis can bring you the reliability to reduce the risk of missing any potential pathogenic variant in your genome to the barest minimum
• Based on the description of your clinical symptoms and family history, our medical and genomic experts are able to get a deep understanding of your genome data and to narrow down the analysis of your whole genome data to relevant genes for your condition
• Only in the combination of the Whole Genome Sequencing, medical report, a quarterly updated report, and the newest scientific findings you will receive the best level of medical and scientific precision

Today only about 1% of all known mutations can be interpreted correctly and with the highest quality. However, genomics is rapidly evolving with the growing potential to interpret more and more mutations in the future.

This increase in better scientific interpretation of mutations will make it possible to continuously improve the world’s knowledge in describing the clinical consequences of given genomic mutations.

With your subscription to Arcensus services, we will send you an updated report based on newly discovered scientific data and updated interpretation of genomic mutations every three months. This way, your genomic data is continuously checked with the latest clinical research and stays up to date in a rapidly evolving medical field.

*Sampling from a subject with oro-nasal bacterial infection might lead to invalid results due to high bacterial DNA load.

Genomic DNA is sequenced to yield an excellent mean quality of the data with an average coverage depth of 90 GB. This enables our single sequencing run to capture more than 99.8% of all variants, including Single Nucleotide Variations (SNVs), insertions and deletions (Indels), Copy Number Variations (CNVs), and large Structural Variants (SV). Sequence reads are aligned to the latest reference human genome, so-called hg38, and the most updated gene definition, containing more than 3,2 billion base pairs (bp) and including more than 20,000 genes.

myLifeDNA™ was developed and assessed for accuracy and precision by Arcensus.

The design of the sequencing test is the property of Arcensus and includes more than 20,000 genes related to any potential genomic diseases. All mutations were evaluated with respect to their pathogenicity and causality, and these are categorised following international guidelines (e.g. American College of Medical Genetics – ACMG). All mutations are verified to have good quality, and only those mutations with evidence for causing or contributing to disease are reported as primary findings.

We only report pathogenic and likely pathogenic variants (according ACMG criteria; these we call “mutations”). Likely benign and benign variants are not reported (these we call “clinical irrelevant mutations”). Incidental findings (those mutations not being the reason for ordering the test) are reported according to ACMG recommendations for reporting of incidental findings, if consented.