Discovering individual genetic variations

cells, human, medical

The genome is home to an incredible amount of information, encoding our inherited uniqueness and providing us with a blueprint as to what we will become. Breakthroughs in the form of studies like the Human Genome Project and the likes have resulted in a boom of knowledge within our understanding of human genetics. By utilising insights into the individual genome, we can gain important knowledge of areas such as predispositions to diseases, pharmacogenomics, and nutrigenomics. Currently, the price and time of sequencing the whole genome makes it unfeasible for the general consumer,
however another approach is available. Genotyping.

What is genotyping?

Genotyping is the process of elucidating the nucleotides present at previously discovered genomic sites that we already know can provide us with important knowledge. Instead of sequencing the whole genome, we can zoom in and focus on specific variant. This approach is much cheaper and faster than whole genome sequencing. It works by matching sites of genetic variation in a human genome, with short strings of DNA in a chip-array. When the strings are matched, scientists can read the nucleotide present at that specific location. At Pregenic, we use the Illumina Infinium Global Screening Array MD 3.0 (GSA 3.0 MD). This array provides us with information about variants from databases such as ClinVar, CPIC and PharmGKB. The genotyping process itself is carried out by our trusted lab partner in Denmark. With their network of more than 800 laboratories across 47 countries, and many years of expertise, they help ensure the integrity of Pregenic.

Single Nucleotide Polymorphisms

Single Nucleotide Polymorphisms (SNPs) refers to single nucleotide differences between people and is the most common variation in the human genome. SNPs have been related to a myriad of different complex diseases and further developing our understanding of them will prove a tremendous contribution to future medicine and human health.

What can we learn?

Millions of SNPs have been discovered through so called Genome Wide Association Studies (GWAS) and their association with phenotypic expression has been calculated. By using the GSA MD 3.0, we can gain insights into genetic variations affecting human health, as well as variants giving insights into drug responses. In giving costumers knowledge about their possible predispositions and adverse drug responses, our hope is that we can contribute to longevity and better health for everyone.

Leave a Comment

Your email address will not be published. Required fields are marked *