Personal genomics: assistant in efficient treatment development

Personal genomics: assistant in efficient treatment development

DNA is a kind of genetic portrait storing all features of living body. Personal genomics is a key to human health. Currently, genetic testing allows to determine predisposition to various diseases. Such tests also help to define efficient treatment and to correct therapy. The article explains the concept of personal genomics and its role.

Personal genomics and its role in personalized medicine

Personal genomics

Personal genomics is a branch of genomics related to sequencing and examination of the human genome. The unscrambled genotype can be analyzed using published scientific literature.

Personal genomics plays a crucial role in predictive and personalized medicine. It helps to:

  • define mutations stimulating cancer development;

  • identify predisposition to Down's and Edwards' syndromes, diabetes, coronary heart diseases, pulmonary fibrosis, etc.;

  • predict or detect genetic diseases;

  • specify the list of drugs, which are better digested by the body and which cause less amount of side effects;

  • predict the development of unborn child’s genetic diseases that can be got from parents.

The human genome was first deciphered in 2003 as part of the international project called Human Genome Project. Since then, the DNA analysis sector is evolving pretty fast. While the genetic testing cost $100,000 in 2002, this service cost $1000 in 2014. In 2019, the DNA analysis can be done for $200.

Today, genes are deciphered not only at hospitals. Online resources also provide these services, including:

Preventing (predictive) medicine

Preventing medicine

Decoding or sequencing of genomes allows to define any mutations or abnormalities, which can cause various diseases. According to Global Genes, science knows 7,000 rare diseases. 80% of them are driven by genetics. 5% of global population suffers from them.

Currently, there are three most popular types of analysis allowing to identify predisposition to certain diseases:

  • search for genetic markers. This kind of research helps to find proteins in the body, which reveal a statistical relation of specific sequence of genes with a range of illnesses;

  • Genome Wide Association Study. It is applied to find a connection between gene sequence and external/internal properties of the body acquired during evolution;

  • oncogenetics. This testing allows to find changes in genes and chromosomes of cells. It can define cancer cells at early stages of tumor growth.

Due to genetic analyses, one can define human predisposition to hundreds of diseases. If patient’s gene has a mutation accounting for any illness, it will manifest at a certain point of life. For example, symptoms of some diseases can be shown at an early age (cystic fibrosis or deafness) and others can appear in adult life (polycystosis).



It is a branch of pharmaceutics and pharmacology that allows to select drugs, based on genetic features, absorbed by the patient’s body as good as possible and causing less side effects.

When a person takes medicine, this drug passes the following processes:

  • absorbing;

  • distribution throughout organs, cells and organellas;

  • interaction with receptors;

  • metabolism;

  • egestion.

All these stages are controlled by genes. For example, three milligrams of agent is an efficient dose for one patient and a toxic dose for another. Genome decoding allows doctors to prepare the most appropriate treatment or to correct the previously chosen therapy.

As of 2018, the Food and Drug Administration (FDA) approved more than two hundreds of drugs that can be prescribed to patients given pharmacogenomics biomarkers.

The study published by ScienceDirect stresses that the application of pharmacogenetic testing in case of mental treatment is economically-viable. Such an approach helped each patient to spend $3988 less on therapy than during treatment without testing.

Future of personal genomics

Future of personal genomics

According to Markets and Markets, the personal genomics market amounted to $11.11 billion in 2013. It was expected to reach $19 billion at year-end 2018.

Currently, the market growth is encouraged by:

  • the emergence of new companies and services engaged in genetic research;

  • the reduced price of tools and consumable materials for analyses;

  • the integration of genetic testing into clinical practice;

  • the increasing popularity of genetic tests among consumers, etc.


DNA testing is becoming more available. Therefore, it is easier to decipher your own genetic portrait. People can know exactly what vitamins to take in order to prevent a certain disease. Doctors are able to prescribe the most efficient drugs to their patients. All of this is possible because of personal genomics standing guard over human health.

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