The various genetic tests available today assist in family planning before and during pregnancy, predicting the risk of passing an inherited genetic condition through carrier testing, in early diagnosis of genetic disorders, detecting genetic abnormalities that can be treated as early as the first days after birth, and in the diagnosis of active cancer, leading clinical actions according to the genetic makeup of the tumor.
TGex was designed to offer laboratories, hospitals, diagnostic companies, clinics and researchers with rapid, easy-to-use protocols for analysis, interpretation and reporting on these tests.
There are over 100,000 genetic mutations in approximately 7,000 genes associated with rare inherited diseases. In the diagnosis of rare genetic disorders the aim is to identify the underlying mutation/s of the specific symptoms exhibited in a patient.
The main hurdle is the vast amount of variants to explore, which is the standard output of the sequencing process of any individual.
Using comprehensive biomedical and clinical data in the GeneCards Knowledgebase, TGex automatically ranks variants based on their association with any biological or clinical term, and automatically provides the evidence required to assist in the examination and evaluation of the results.
Thus, TGex is able to significantly reduce the analysis time spent on identification of causal variants, and offer comprehensive knowledge-driven reports at a click of a button, that automatically include relevant evidence and publications.
Identifying causal mutations in genetic disorders drives genetic counselling for the family, clearer and more accurate diagnosis and prognosis of clinical conditions, and can also assist in finding potentially life-saving new treatments.
Screening for rare genetic disorders and other disease families such as coagulation disorders, cancer predisposition and others, was traditionally done using conventional genotyping of sets of limited number of known mutations. With the advent of NGS, it is now clear that sequencing panels of whole genes can provide increased accuracy and sensitivity in a cost effective manner.
Using the comprehensive data in the GeneCards Knowledgebase, TGex easily provides all the relevant biological, molecular and clinical information for each known or novel identified mutation, making report generation with data collection simple and automatic.
Identifying mutations in such disease panels and importantly, providing all up-to-date clinical information about them, is critical for early diagnosis that could potentially be life-saving (like cases of cancer predisposition and other acute diseases). It is also highly effective in the case of genetic counselling for carriers of mutations for rare genetic disorders, and can improve the life quality in the case of chronic diseases, offering actionable guidelines such as novel treatments or changes in life-style.
Cancers were historically viewed and therefore treated as a group of very similar diseases with the most prominent aberration – the one in cell growth – being targeted by most available drugs. Later on, tumors were classified by the source or tissue from where the malignant cells originated. This already better categorized the various cancer drugs and guided more specific treatment.
With the availability of cost effective sequencing, and after analyzing millions of genetic variations within specific tumor biopsies, it is clear that the genetic makeup of each tumor can vary between tumors and even between the same tumors in different times. These understandings are leading the way to replace the traditional cytotoxic treatments by more specific, often less toxic and apparently much more effective molecular and biological entities that target specific alterations in the tumor DNA that gave the tumor cells their advantageous cell growth.
Using the broad clinical data available in the GeneCards Knowledgebase, TGex provides several layers of information on the variations identified in the tumor biopsy sequencing, such as associated drugs, relevant clinical trials, pathways involved and others. Examination of this unique information that is incorporated into the report can lead to actionable decisions that will improve the treatment and make it more accurate, specific and efficient.