Innovative Genomic Analysis Solutions by Science Labs.
Clinical Exome Solution (CES)
Science Labs, in collaboration with Sophia Genetics, the Global Leader in Data-Driven Medicine, implements an even more extended, highly reliable, genomic analysis; Whole Exome Solution (WES). This new, innovative approach allows for detailed analysis of more than 19.000 human protein coding genes, according to RefSeqGenes records, covering the “expressed” portion of the human genome.
The methodology behind Clinical Exome Solution (CES)
Science Labs is the first and, to date, the only genetic diagnostic center in Greece to implement the Clinical Exome Solution (CES) genomic analysis. Clinical Exome Solution (CES) is fully performed at our state-of-the-art lab facilities, using cutting edge technology equipment and having experienced and specialized molecular biologists and geneticists on our scientific team.
Clinical Exome Solution (CES) is developed by SOPHiA GENETICS®, the Global Leader in Data-Driven Medicine. This is an integrated approach in respect of wet lab design along with the bioinformatics analysis embedding an advanced platform, Sophia DDM® SaaS Analytics.
With the unique capture target enrichment technology and the use of the Illumina NextSeq-500 NGS sequencer, CES analyses 11 million nucleotides residing within regions which are expressed and which are related to genetic disorders, covering >4.500 genes registered in the HGMD (Human Gene Mutation Database) database, facilitating 116.355 molecular probes. Testing is performed by a specially designed analysis of all gene coding regions, their intron/exon boundaries as well as other known regulatory elements residing outside genes which are known to contribute to an abnormal phenotype. The method implemented detects nucleotide substitutions, small deletions/duplications and some balanced rearrangements. Therefore, performing one single test there is access to genetic information, which would be extremely difficult to gain by single gene testing conducted in a single lab.
Clinical Exome Solution (CES) analysis method allows for exceptional analytical performance (sensitivity >99%, specificity >99%, reproducibility >99%), with a median coverage greater than 50x in over 96% of targeted regions, presenting unsurpassed uniformity in coverage (>98%).
What has changed with new technologies?
Until recently, in order to investigate genes related to genetic disorders, step-by-step single gene analysis or, best case, small panel gene analysis were performed. Therefore, testing was time consuming, laborious and with a high overall cost burdening the patients. Nowadays, platforms exploiting new technologies, such as Next Generation Sequencing (NGS), allow for massive parallel sequencing of a great number of genes in the same assay, overcoming the aforementioned limitations. Thus, the cost per gene is dramatically reduced and, by obtaining more rapidly, reliable results, referring doctors and their patients gain valuable information in the aim of effective healthcare management for patients and their families.
Why is Clinical Exome Solution (CES) superior compared to other approaches?
Clinical Exome Solution (CES), which is implemented exclusively by Science Labs, exploits new technologies throughout all steps, allowing for simultaneous analysis of more than 4.500 genes. Therefore, reliable genetic investigation is obtained, at a low cost per gene and at a much shorter turn-around-time. Clinical Exome Solution (CES), performed exclusively at Science Labs, is superior to other comparable methodologies, since apart from its high performance potential, it presents higher levels of uniformity in regions of clinical interest, even at the most demanding ones, such as promoter regions and first exons, which have a high GC content.
Combining all its characteristics, it’s the method with the less false negative results.
Compared to broader approaches such as WES (Whole Exome Sequencing) and WGS (Whole Genome Sequencing) Clinical Exome Solution (CES) is more targeted to regions with proven clinical significance. As a result, deeper coverage is achieved, making causative mutation detection easier, more effective and precise. In any case, to date there are no systematic studies supporting whole genome analysis in healthy individuals while, on the contrary, there are recent publication recommending not to proceed with such broad testing for numerous reasons.
Bioinformatics data analysis, by using the Sophia DDM® SaaS Analytics platform, provides the option to store analysis data for up to 10 years, in an easily accessible way and on secure mode concerning privacy issues. Thus, while a an initial subset of genes of interest may be analyzed directly after testing, there is an option for retrospective analysis of another subset of genes in the future depending on current needs. As an example, by undergoing testing only once, an investigation of a neurological condition may be performed at first and, without repeating the test, predisposition to hereditary cancer may be evaluated subsequently.
Who is a candidate for testing with Clinical Exome Solution (CES)?
For an extended carrier screening, in the context of family planning, Clinical Exome Solution (CES), performed at Science Labs is the method of choice. By being tested only once, potentially, up to 4.500 genes which are known to contribute to an abnormal phenotype related to severe or less severe genetic disorders. Mutation carriers of many genetic diseases, especially those inherited in a mendelian recessive manner, present no profound symptoms. Thus, healthy carriers have a high risk of giving birth to affected children.
For an extended carrier screening, in the context of family planning, Clinical Exome Solution (CES), performed at Science Labs is a method of choice, especially for couples entering an IVF program. Taking into consideration the multilevel complexity of these procedures, the knowledge of mutation carrier status and the probability to co-inherit mutations leading to a recessive genetic disorder may be proven valuable. Thus, prenatal diagnosis or preimplantation genetic diagnosis and selection could be timely scheduled or future parents may prepare for the future. Additionally, CES may be performed on sperm/egg donor candidates in order to estimate the genetic burden of the donors prior to IVF.
For the investigation of genetic causes of unexplained infertility, Clinical Exome Solution (CES), performed at Science Labs, may broaden the spectrum of testing beyond standard testing approaches, so that valuable information is gained to choose the IVF program most fit for each couple.
In pediatric or adult cases, where the genetic grounds of a clinically suspected/diagnosed disorder needs to be revealed for the most effective healthcare planning and management, Clinical Exome Solution (CES), performed at Science Labs, may prove to be a valuable asset for the pediatrician’s, cardiologist’s, neurologist’s, ophthalmologist’s and various more specialty’s clinical practice.
Clinical Exome Solution (CES) genomic analysis method, performed at Science labs, is a comprehensive approach and the knowledge gained may contribute as a determining component to the genetic counselor’s, clinical geneticist’s and other specialty’s best practice.
The disease spectrum investigated by the Clinical Exome Solution (CES)
Autism spectrum disorders
Congenital disorders of glycosylation
Congenital myasthenic syndromes
Epilepsy and seizure disorders
Glycogen storage disorders
Hereditary cancer syndrome
Hereditary periodic fever syndromes
Inflammatory bowel disease
Lysosomal storage disorders
Maturity onset diabetes of the young
Multiple epiphyseal dysplasia
Noonan syndrome and related disorders
Peroxisome biogenesis disorders
Zellweger syndrome spectrum
Short stature panel
X-linked intellectual disability