Genotyping FAQs

What is genotyping for medicine?

Genotyping is a necessary stage in the medicine of the future, the so-called “4P medicine” – personal, predictive, preventive and participatory. Personal medicine is emerging because many drugs are already prescribed individually, since the same drugs can be effective or ineffective, or even dangerous, depending on the person’s genotype. Therefore, medical specialists conduct genetic testing and determine the carriage of variants of genes that determine both resistance and hypersensitivity of the patient to these drugs, which allows doctors to prescribe a suitable dosage of the drug or replace it with a safe analog.

Types of genotyping services

It is offered a wide range of genotype analysis using the following platforms:

  • PCR;
  • sequencing;
  • fragment analysis;
  • Next Generation Sequencing (Ion Torrent and Illumina);
  • microarrays.

These technologies are suitable for genotyping any number of SNPs, CNVs, Indels and structural variations from one to several million and for a wide range of sample numbers (1-800,000 XNUMX +). Some of the technology platforms are suitable for use with low yield and / or fragmented materials.

Why to study genes?

Studying genes helps to understand why various diseases occur. Thanks to the fact that such knowledge will enter the medical system, it will be possible to more effectively predict the occurrence of diseases, intervene at an early stage and select the drugs that will best suit the gene donor based on his genetic data. The study of genes is not limited to health research, it is also possible to study a person’s origins and genealogy.

What is the difference between DNA sequencing and genotyping?

In the human genome, or in other words, in the DNA, there are 3.2 billion so called building stones or nucleotides. Full definition is the sequence of nucleotides of the entire genome is called sequencing. With the help of sequencing, scientists find areas in DNA that are associated with the occurrence of various diseases or other symptoms. In addition to this, solid human health data are used. In turn, when genotyping DNA, a smaller part of the genome is determined – approximately 700,000 nucleotides, which were selected on the basis of previous sequencing.

The nucleotides selected for genotyping are used for risk assessment. Today genotyping is a faster and more affordable way of analysis data and made to all gene donors. The entire genome has been sequenced in about 2,500 people.