Genetic screenings offer personalized insights
that empower proactive health decisions and reproductive choices.

Preconception Carrier Screening (PCS)

A reproductive screening - especially designed for couples, but also individuals, who want information about their chance to have a child affected by certain severe genetic conditions.

  • It is shown that most people are heterozygous carriers for 3-5 recessive conditions. That means they are healthy, but if their partner is also a carrier of the same recessive condition there would be a 25% risk to each of their children of being affected.

    Although the incidence of each recessive disease is low, hence, commonly referred to as rare or orphan disease, the overall number of known genetic diseases is estimated to be higher than 6,500. As a consequence, genetic disorders and congenital abnormalities can be observed in about 2%-5% of all live births.

    The preconception screening is intended for healthy couples interested in carrier screening, but also for at-risk patients (consanguineous couples, individuals with unidentified recessive genetic diseases in the family).

    Carrier screening gives individuals and/or couples an estimate of their chances of having a child affected by certain severe monogenic conditions that follow an autosomal recessive or X-linked mode of inheritance. With this information, individuals or couples can make informed decisions about their reproductive options. In case of positive results, this might include choosing: prenatal testing, preimplantation genetic testing (PGT) based on IVF, adoption, and no testing.

  • It is essential to understand that no screening method can guarantee the detection of all known or unknown genetic diseases or variants nor the prediction of all potential genetic risks. There are inherent limitations and residual risks. These limitations will be addressed in the framework of a genetic consultation.

    The selected genes included for analysis have been chosen and evaluated by experts and are based on recommendations of the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG). Criteria were e.g., high penetrance, sufficient published data regarding clinical sensitivity / specificity, functional studies, pathogenic mutations found in more than one family, etc. Only variants classified as pathogenic or likely pathogenic based on an ACMG/AMP classification scheme will be reported.

Proactive Health Screening (PHS)

Designed for adult individuals who want to learn more about their health and take preventive steps. The proactive screening gives healthy individuals, without a family history, information about their chance of having a genetic condition that is medically actionable or where preventive steps can be put in place to improve health outcomes.

  • It was estimated that 1 in 300 people have a genetic cancer syndrome and 1 in 200 people have a genetic heart disease. The screening includes genes related to certain monogenic adult-onset conditions, including increased risk of cancer, cardiovascular, pulmonary, and hematological disorders with established management and intervention recommendations to prevent or reduce morbidity and mortality.

  • The proactive screening was created for healthy adults, thus the screening does not include genes that are associated with childhood conditions. The screened genes are in line with the ACMG 3.1 SF list. Further, the screening covers Aminoglycoside hearing loss and Malignant hyperthermia. The screening strictly covers high penetrance monogenic conditions. This advanced screening is designed to detect rare genetic variants and does not rely on the simple identification of so-called SNPs (common variants in the general population). Only variants classified as pathogenic or likely pathogenic based on an ACMG/AMP classification scheme will be reported.