Next generation sequencing


What is next generation sequencing (NGS)?

Next generation sequencing (NGS) is the type of sequencing technology BioAro uses to create a readable version of your DNA code. As was mentioned in our ‘Genes’ page, the important DNA differences between individuals that cause physical trait differences like eye colour or internal differences like a sensitivity to a food are called variants. These variations come from many years of evolution and DNA merges through reproduction.

Sequencing in its infancy was only able to read short sections (reads) of one sequence of DNA at a time. Over time, sequencing technology was able to read many more sections at a time, until we were eventually able to do this in such a grand scale that whole genomes could be read. This technological innovation is known as massive parallel sequencing or next generation sequencing (NGS). NGS was initially used to selectively target parts of the genome where we knew variations occurred for certain disease. Today, NGS has grown to allow for sequencing of the whole exome or whole genome, massively expanding our ability to read and interpret differences in DNA between individuals.

How has the price of genomic sequencing changed over time?

At the start of this century, genomic sequencing for a single person cost millions of dollars, now only two decades into the century you can not only purchase personal genome sequencing, but also have it analysed for a few thousand dollars. Currently, most referrals for genomic testing are given to those with multiple unexplained symptoms (pathologies) or with severe developmental problems, however this is rapidly changing. BioAro aims to build preventative healthcare infrastructure, which will build wellness and identify risks before they become pathological.

What information can be revealed by a genomic test?

Genomic testing can reveal information about your risk for disease and inherited genes from your parents. Some may wish to not know about their risk for certain diseases, which is why we have ensured that you can customize your analysis. Regardless of your results, it is important to meet with a genetic counsellor to discuss what they may mean for your life. Our AI and person-powered analysis works tirelessly to provide accurate and rapid diagnostics that are easy to understand, however we know it is always better to have someone to talk to. Our genetic counsellors on staff are ready to meet with you and review how you can leverage your genomic data to prevent disease and lead the best life you can.

What types of diseases can be analysed through genomic sequencing?

There are over 6000 diseases known to be directly linked to the genetics of an individual. These diseases may be monogenic disorders (single gene change) causing cystic fibrosis, Huntington’s disease, sickle cell anaemia, or they could be polygenic disorders (multiple genes changed) such as coronary heart disease, diabetes, cancers, or Alzheimer’s. There are also genes that are pleiotropic – in which a single gene can be responsible for the development of several different diseases.

If my genetic analysis report indicates that I do not have any relevant variants for a disease, does that mean I will never get it?

Not everyone who gets their genome sequenced will have a positive result flagging something of concern, which does not mean you will not develop the analysed disease, it simply means that you are at lower risk than others in the population. The development of disease is a result of not only your genetics, but also the environment you live in and how you live your life. For the same reason, a negative result does not preclude you from the possibility of developing a certain disease.