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Personalized genetics

ANALYSIS WITH MASSIVE PARALLEL SEQUENCING (NEXT GENERATION SEQUENCING – NGS)

Each person’s genetic makeup is slightly different from everyone else’s, often in very important ways that affect one’s health. By sequencing entire genomes and exomes, we can peer deep into the molecular identity of the patient and read the information that is written in the genes. Next generation sequencing (NGS) on genomes and exomes proved to be a revolutionary technology that allowed us to address many biological issues, and demonstrated the capacity for incredibly fast sequencing of DNA, opening the doors for previously unimaginable scientific and clinical achievements and new biological applications. The effect of these technologies on the discovery of new genomic variations is definitely one of the greatest achievements in medicine, and perhaps in general.

Depending on specific needs of each patient, different approaches are used.

Proactive determination of risks for all diseases in healthy people

  1. Whole genome sequencing (WGS) (х30) – all genes and intergenic regions
  2. Whole exome sequencing (WES) (х100) – all protein-coding genes 
  3. Clinical exome sequencing (CES) – ~5000 clinically relevant genes 

Proactive determination of risks for cancer in healthy people

  1. Whole genome sequencing (WGS) (х30) – all genes and intergenic regions
  2. Whole exome sequencing (WES) (х100) – all protein-coding genes 
  3. Clinical exome sequencing (CES) – ~5000 clinically relevant genes 
  4. Gene panels

Proactive determination of the carrier status for rare diseases

  1. Whole genome sequencing (WGS) (х30) – all genes and intergenic regions
  2. Whole exome sequencing (WES) (х100) – all protein-coding genes 
  3. Clinical exome sequencing (CES) – ~5000 clinically relevant genes 

 

Learn more about:

Whole genome sequencing

The flagship of modern personalized medicine and at the same time one of the greatest achievements of our civilization is the sequencing of whole genomes (the entire human DNA). Whole-genome sequencing is the most comprehensive method for analyzing the genome and delivers a comprehensive view of the entire genome and provides information such as predispositions for diseases, different responses to medications, susceptibility to obesity, depression, heart disease, neurodegenerative diseases, information about ancestry, phenotypic traits etc. Next generation sequencing (NGS) is used to sequence the client’s whole genome, and the data is then analyzed bioinformatically. The patient gets and end-point report (summary) of the most crucial findings of its genome, electronic report encompassing all information about variants and if desired the raw FASTQ data. During sequencing, each base pair of the genome will be covered at least 30 times.

Whole exome sequencing

Exome sequencing encompasses sequencing of exons (the protein-coding part of DNA). Currently, it is thought that 85% of all clinically relevant mutations are found within exons, making exome sequencing and alternative approach to genome sequencing. It also delivers a comprehensive view of the entire genome and provides information such as predispositions for diseases, different responses to medications, susceptibility to obesity, depression, heart disease, neurodegenerative diseases, information about ancestry, phenotypic traits etc., but in a more affordable manner, albeit with lower resolution compared to whole genome sequencing. Next generation sequencing (NGS) is used to sequence the client’s whole exome, and the data is then analyzed bioinformatically. The patient gets and end-point report (summary) of the most crucial findings of its exome, electronic report encompassing all information about variants and if desired the raw FASTQ data. During sequencing, each base pair of the genome will be covered at least 100-150 times.

Clinical exome sequencing

Clinical exome sequencing test is similar to Whole Exome Sequencing using the same NGS technology. The main difference is that only about 5,000 genes are being sequenced, and those selected genes are the ones with the most relevant clinical data on their association with certain clinical conditions.