# Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain

## TL;DR

A Spanish hospital integrated whole genome sequencing into medical checkups and found that nearly 20% of participants had clinically relevant genetic variants.

## Contribution

This is the first hospital in Spain to implement elective genomic testing in routine medical checkups.

## Key findings

- Clinically relevant genetic variants were identified in 19.8% of 400 participants.
- 3.3% of participants had variants on the ACMG secondary finding list.
- 69.2% of ACMG-list variants were potentially linked to personal or family medical history.

## Abstract

Elective Genomic Testing (EGT) can identify individuals at risk for actionable conditions that would not come to clinical attention following current testing guidelines. We describe the results of a checkup unit from a leading Spanish University hospital (Clínica Universidad de Navarra, Spain) that has incorporated EGT to their regular clinical practice. Medical anamnesis, biochemistry, low-intensity whole body scan and EGT with interpretation of over 560 genes related to actionable adult-onset diseases (Veritas Intercontinental, Spain) was performed in 400 participants, including medical consultation before and after the checkup. Clinically relevant variants were identified in 79/400 participants (19.8%). Thirteen individuals (3.3%) presented with clinical variants included in the American College of Medical Genetics and Genomics secondary finding list (ACMG SF list); 69.2% of these variants showed potential association with personal or family history (PFH). The study presents the results of the first hospital integrating EGT into the checkup unit.