Genetically-based diseases of the heart and blood vessels are a relevant cause of morbidity and mortality worldwide.

Past and current strategies have relied on environmental factors that contribute to cardiovascular diseases, such as obesity, smoking and lack of exercise. However, the crucial role of genomics has become more and more evident recently.

There are numerous cardiovascular diseases and abnormalities that are caused by mutations, also called pathogenic variants, in more than 450 genes, including:

• rhythm abnormalities that cause fainting and sudden death
• diseases of the heart muscle itself, called cardiomyopathies, that cause heart failure
• lipid disorders that cause heart attack and stroke
• connective tissue disorders that cause increase and potential rupture of the main artery, the aorta

Many genomic netic cardiovascular disorders can be successfully treated and even partially prevented – if identified early enough.

However, the main problem is that most of the diseases do not show any symptoms and signs until it is too late and, in many cases, the diagnosis takes too long.

Genomic testing is the only reliable method of diagnosing and confirming genetically-based cardiovascular diseases and at-risk-conditions, partially even before the appearance of any symptoms and signs. This early diagnosis is critical with diseases where the first symptoms are already life-threatening or fatal (e.g. sudden death due to genetically based problems of the heartbeat).

With genomic testing, patients can select optimal methods of treatment such as specific medicine or surgical intervention.

Additionally, potentially affected relatives can be warned and can use genomic testing to detect potential disorders and take preventive measures themselves.

The arcensus Direct-to-Consumer ‘Genomic-testing-first’ approach allows us to

• make an early diagnosis, even before first symptoms appear, and potentially save lives
• optimise further diagnostic interventions resulting in reducing cost and time
• suggest optimal treatment methods
• suggest optimal relatives‘ screening

arcensus myLifeHeart™ genomic testing for cardiovascular diseases offers the optimal package with the best conditions to diagnose cardiovascular diseases or to investigate the risk of their development – based on the complete analysis of more than 450 genes.

Please download to gain deep insights of heart genomics.

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’s 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.

myLifeHeart™ 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 450 genes related to heart 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.