Genetic Sequencing

There are many Genetic Tests offered in the market BUT they are Diagnostic in nature and NOT Predictive i.e., the test is specifically taken to confirm the diagnosis of existing disease in the body. The common tests are in the form of:

  1. Targeted single variant: Single variant tests look for a specific variant in one gene. The selected variant is known to cause a disorder (for example, the specific variant in the HBB gene that causes sickle cell disease). This type of test is often used to analyse a number of specific variants in particular genes (rather than finding all the variants in those genes) when providing health or disease risk information.
  2. Single gene: Single gene tests look for any genetic changes in one gene. These tests are typically used to confirm (or rule out) a specific diagnosis, particularly when there are many variants in the gene that can cause the suspected condition.
  3. Gene panel: Panel tests look for variants in more than one gene. This type of test is often used to pinpoint a diagnosis when a person has symptoms that may fit a wide array of conditions, or when the suspected condition can be caused by variants in many genes. (For example, there are hundreds of genetic causes of epilepsy.) e.g.,150 gene, 400 gene panel tests for cancer.
  4. Among the more advanced tests are those based on Whole Exome Sequencing/Whole Genome Sequencing - These tests analyse the bulk of an individual’s DNA to find genetic variations. Whole exome or whole genome sequencing is typically used when single gene or panel testing has not provided a diagnosis, or when the suspected condition or genetic cause is unclear. Whole exome or whole genome sequencing is often more cost- and time-effective than performing multiple single gene or panel tests.

NEXT GENERATION SEQUENCING (NGS)

Whole Exome Sequencing and Whole Genome Sequencing, are increasingly used in healthcare and research to identify genetic variations; both methods rely on new technologies that allow rapid sequencing of large amounts of DNA. These approaches are known as NEXT GENERATION SEQUENCING (NGS). With NGS, it is now feasible to sequence large amounts of DNA, for instance all the pieces of an individual's DNA that provide instructions for making proteins. These pieces, called exons, are thought to make up 1 percent of a person's genome.

  1. Whole Exome Sequencing - Together, all the exons in a genome are known as the exome, and the method of sequencing them is known as whole exome sequencing. This method allows variations in the protein-coding region of any gene to be identified, rather than in only a select few genes. Because most known mutations that cause disease occur in exons Whole Exome Sequencing is thought to be an efficient method to identify possible disease-causing mutations.
  2. Whole Genome Sequencing – Researchers have confirmed that DNA variations outside the exons can affect gene activity and protein production and lead to genetic disorders--variations that Whole Exome Sequencing would miss. For this another method, called Whole Genome Sequencing, is used to determine the order of all the nucleotides in an individual's DNA and that can determine variations in any part of the genome.

In short, all such tests are predominantly used for supporting the diagnosis of the disease and none of them are PREDICTIVE in nature

HEMATO PREGEN is a notch above.

HEMATO PREGEN isolates 20,000+ genes for analysis. It is PREDICTIVE, uses Transcriptomics and as possible, works on RNA as base genetic material post extraction from the PRIMARY stem cells from the sample. RNA is transcribed to complementary DNA (cDNA) and whole genome sequencing of this is called Transcriptomics.

HEMATO PREGEN is Transcriptomics using GenePoweRx NGS engine, with ML and AI, approved by Memorial Sloan Kettering Cancer Center.

HEMATO PREGEN uses Transcriptomics. To put that into perspective, Genomics provides an overview of the complete set of genetic instructions provided by the DNA, while transcriptomics looks into gene expression patterns. Transcriptomics encompasses everything relating to RNAs. This includes their transcription and expression levels, functions, locations, trafficking, and degradation. It also includes the structures of transcripts and their parent genes with regard to start sites, 5′ and 3′ end sequences, splicing patterns, and posttranscriptional modifications.