Adolescent Idiopathic Scoliosis with the SCOLI tool portfolio

The SCOLI Tool Portfolio for Adolescent Idiopathic Scoliosis

EpiDisease has a portfolio of three SCOLI- products to identify patients at high risk of developing Adolescent Idiopathic Scoliosis (AIS), predict the risk of spinal deformity progression, robustly measure the degree of spinal curvature, and improve patient monitoring through standalone software that incorporates artificial intelligence algorithms.

Dr. Eva García comments on the ScoliGEN and ScoliVIEW products

ScoliGEN is a genetic test developed by EpiDisease S.L. (Authorized diagnostic center by the Conselleria de Sanidad nº 22325) that evaluates the susceptibility to developing Adolescent Idiopathic Scoliosis (AIS). This test is based on the analysis of 20 single nucleotide polymorphisms (SNPs), located in genes associated with the risk of onset and progression of the deformity. An SNP is a variation at a single position in the DNA among individuals, with a frequency in the general population greater than 1%. The genotype is the complete set of genetic information of an organism, represented by the DNA sequence in its genes. It includes all the alleles present in an organism and, more specifically, may refer to the two alleles located at a particular position (locus) in the DNA sequence. The combined analysis of the genotypes obtained through qPCR in the ScoliGEN test allows for the calculation of a risk value for AIS.

The results of ScoliGEN do not change over time; therefore, the test can be performed at any point in the patient’s life without affecting the result, even if there are no manifest clinical symptoms of AIS, and it does not imply any adverse effect on health. The test is carried out through self-sampling using a saliva sample, which is a non-invasive, less bothersome, and painless process. The results obtained with ScoliGEN, together with the evaluation by a specialist physician, provide more comprehensive information to address the onset or predisposition to AIS in a personalized and efficient manner. The result of the test does not necessarily indicate the development of the deformity and must be assessed within a broader context, considering other clinical variables.

Sensibilidad 90%

Valor Predictivo Negativo 82%

Especificidad 39%

Valor Predictivo Positivo 56%

ScoliGEN is currently offered as a service based on an LDT (Laboratory Developed Test) within our diagnostic services portfolio as an authorized healthcare center (22325) specializing in genetic diagnosis.

It is an epigenetic IVD test based on measuring the dynamic nature of a panel of microRNAs in peripheral blood samples. The data generated by the test are used in proprietary algorithms to calculate a Scoliosis Risk Index (SRI), which provides a diagnosis of AIS.

Based on the results of ScoliMIR, physicians can confirm a diagnosis of AIS with a high degree of confidence without exposing the patient to additional rounds of ionizing radiation, which is believed to be associated with an increased incidence of cancers in this patient group.

This rapid confirmation of AIS diagnosis allows the physician to promptly initiate a personalized AIS care pathway.

Sensitivity 96%

Specificity 86%

Positive Predictive Value 95%

Negative Predictive Value 92%

ScoliMIR is currently undergoing the regulatory authorization process for commercialization, expected in 2024.

ScoliVIEW is a web-based tool for automatic measurement of the Cobb angle, avoiding the documented intra- and inter-observer variation of 4°–8° found in manual measurements.

ScoliVIEW identifies all curves and calculates Cobb angles on DICOM, JPEG, and PNG images within seconds.

The usefulness and value of this software will be enhanced by the application of artificial intelligence and Machine Learning (ML) algorithms. ScoliVIEW data will improve patient follow-up protocols, optimize the scheduling of hospital visits, and support decision-making for the most appropriate treatment based on robust, observer-error-free data.

ScoliVIEW is in the process of obtaining regulatory authorization for commercialization, and a functionality and usability trial is currently underway in 4 Spanish hospitals.

Developed with financial support from

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