Whole Genome Sequencing (WGS) or Full Genome Sequencing took the world of home genetic testing by storm. Previously reserved to Research Insitute and Hospitals, it is now possible to make the most of the knowledge available in the full length of the DNA.
Recently companies started to offer full genome sequencing at a fraction of the price of what it was just 10 years ago. In 2010, Illumina, one of the major DNA sequencing companies, offered what seemed to be a good deal: Sequencing the whole genome for $50,000.
Now it just costs a couple of hundred dollars to achieve the same results. When coupled to the power of Bio-informatics and super-computing, these at-home genetic kits require a few milliliters of spit to open the doors of your heredity, genetic make-up, and potential risk factors for a wide range of genetically related diseases.
Before diving deeper into the mysteries of DNA, let’s first introduce what full genome sequencing is, the benefits and potential hurdles of such accurate analyses. Finally, we will also tell you who are the best players on this market, estimated to reach $25 billion by 2025.
Full Genome Sequencing 101
The phenotype will correspond to the observable characteristics of the Genome. For example, is you have Ginger hair? It is part of the code. If you carry a risk factor for a rare genetic disorder? It will also be written in the code.
If you remember your biology classes, you already know that each of our cells contains DNA strands and that each gene will code for a protein. The genome is the book of life. The DNA alphabet is simple and only based on four chemical letters (A: Adenine, T: Thymine, C: Cytosine, and G for Guanine). The messages contained are somehow very long, 3 billion bases. Deciphering the arrangement of the DNA bases, the genome, will allow to better understand the resulting phenotype.
During a whole-genome sequencing process, all of the letters constituting the DNA are read. The more times the same base will be read, the higher the accuracy and the depth of the analysis. The current gold-standard being to read each base 30 times. WGS differs from more standards genetic hone tests usually based on DNA chips also known as microarrays. In these tests, only a fraction of the genetic information is analyzed using markers specific for a certain arrangement of chemical bases.
In a nutshell, standard genetic kits are only as good as the DNA sequences they are looking for. The accuracy is then limited. So you basically only find what you are looking for. As a reference, 23andMe, one of the Home-Based Genetic Tests leaders, analyzes 7,400 up to 45,000 markers per chromosome. Their test is somehow one of the best on the market.
How does it work and what can you learn from Full Genome Sequencing?
The first step is to collect DNA samples. Most genetic companies use the same procedure. What is critical is to collect cells and extract their DNA. The highest the number of cells, the better the chances of obtaining a reliable result. Once ordered, the company will send a vial with a unique Identifier Code. The collection process is straightforward. Just rinse your mouth, spit in the tube, enter the code on the website and send back the vial using the pre-stamped envelope. It is as simple as that.
The company will then extract the DNA from the cells present in the saliva, analyze the code using Next-Generation Sequencers, and upload the results.
The true value of these tests lies in the database and Bioinformatic software used to decrypt the code and detect relevant information. Interpreting genomic data is a difficult process, and a modification of just a couple of bases can lead to dramatic differences and even to a genetic disease.
By analyzing all of the letters, WGS allows reaching an unrivaled accuracy. However, the results are not cast in stone but are more like watching the weather forecast. A couple of wrongly positioned letters will lead to an increase in the probability of developing a rare disease.
The results will be presented as percentages. For Genetic genealogy, the arrangement of chemical bases will vary from generation to generation. The evolution of the code takes several generations. Therefore, by reading the whole code, it is possible to better correlate the genetic arrangements with the genetic makeup of different populations.
For home use, whole genome sequencing allows to better assess the risks of developing a disease. Data is knowledge, and knowledge is power. Discovering that you have a genetic risk factor for high blood pressure may be a good first step to limit salt consumption. Taking the necessary action to prevent the appearance of a trait is one of the great benefit of DNA sequencing. We all know that some people will be lucky enough to eat what they fancy without putting on weight. It is also part of the genome.
For Ancestry analysis, such accuracy opens the doors to a completely different way to track the migration of our ancestors and potentially connect with distant relatives that share specific part of our own genetic code.
Pros and Cons of Full Genome Sequencing?
Home-based sequencing offers numerous benefits and a couple of drawbacks as well. It is important to understand both the pros and cons before unlocking the genes pandora box. We selected the most critical even though others also exist.
- Obtaining medically relevant information
- Highest level of accuracy when decoding the DNA
- Good for Life. The DNA will never change (unless very special circumstances such being exposed to radiations).
- Some companies, at least one, offer a high level of privacy based on the use of blockchain technology.
- Sense of relief in case a genetic pathologic trait runs in the family and is not detected.
- Results are updated for life. As Science and Bioinformatics evolves, the results will also evolve (slightly).
- The Interpretation of the code is only as good as the database and IT tools used by the company
- Validity: To be usable, the whole DNA must be covered accurately.
- Psychological impact: Knowing that you have a certain probability to develop a disease can be overwhelming for some individuals.
- Privacy is critical to avoid racial or health related discrimination. DNA is our most private and precious asset.
What companies offer Full Genome Sequencing at-home kits?
From a pure research institute technology just a couple of years ago, numerous companies offer affordable tests that may well change the way you look at yourself. We selected the ones we consider the best ones in terms of scientific reliability, privacy, and price.
Nebula Genomics is becoming one of the leaders in this market. The company offers the best price point and relies on high-throughput technologies to streamline the analysis process. As a result, for just $299, it is possible to decode the whole DNA, the full 20,000 gene pool.
For Genetic genealogy, the company read both the Y-Chromosome, for the paternal lineage and the mitochondrial DNA, for the maternal lineage. For a monthly subscription of $20, the results are updated as science and the database evolve. New DNA reports are available every week.
The results are uploaded in the cloud and are accessible using a technology derived from the blockchain. Hence, privacy is guaranteed, and different access levels can even be granted depending on whether the data are analyzed by family members or by medical professionals.
The company also offer the possibility to upload ancestry-related data from 23andMe or Ancestry.com and benefit from their Bioinformatics expertise for additional analyses.
The company WGS test starts at $599, but the data are available for life without the need of an additional subscription. The approach of Dante Labs is different from Nebula Genomics. The results are classified into three areas of particular relevance: Wellness, Nutrigenomics, and Health, including a rare disease report.
Dante Labs relies on a holistic view of how DNA influences our lives and how to act according to our genetic background.
Full Genomes Corp.
The company offers tests at different price points depending on the number of times the genome is read. The 30x coverage (same as Nebula Genomics and Dante Labs) is proposed at $1150. The test includes health and ancestry reports (Y-DNA, mt DNA).
To wrap up
Full Genome Sequencing now offers the possibility to unlock the mysteries of the 20,000 genes we all carry, both for health or ancestry related purposes. With a price point now affordable to the public, these tests are the ultimate way for any generic enthusiasts or health conscious individuals to analyze the full length of the DNA.
If the technology is now accurate enough to obtain reliable results, the value of most of these tests lies in the associated database and quality of bioinformatics analyses. With the ability to receive updated results every week, the initial investment appears reasonable.
The Privacy of the results is a main point of concern. Companies such as Nebula Genomics that use blockchain technologies are certainly on a path to disrupt how we will look at our cells.