Most people have heard of genetics, but if you try to understand it in detail, it is just as hard as learning Mandarin. The inundation of information can be very overwhelming when you first start looking at the vast array of genetic tests available online.
In reality, everyone has a different reason for wanting to take a genetic test. Some people want to find out whether they are at risk of suffering from certain diseases, others want to find out how their genetics could improve their sporting ability, or to find out about their ancestral origins…
One thing is clear when it comes to taking a genetic test: the price reflects the technology used and the level of information it gives you. Everything in life has a price…so the cost usually gives you a pretty good indication of what you can expect from the test.
Not all companies follow the same procedure when it comes to reading human DNA, the mystery molecule that holds the secret to each individual life. If we were to compare these companies to DNA readers, and DNA to a book, we could broadly distinguish 3 different types of reader: readers who just look at single words throughout the book, readers who read 3 or 4 important pages, and those who read the entire book.
In all three situations, the readers read real words, but they obtain completely different information. In the first case, if the reader knows exactly which words to look for, they will probably be able to give you some interesting information about those words, however, they will leave out a lot of other information. We could compare this to the tests that only look at specific areas of the DNA (small variants), naturally bridging some gaps in our knowledge. These tests look at widely studied variants relating to a certain trait, such as having more muscle power, having lower vitamin levels, or those revealing ancestral origins.
Now, let’s look at the reader who reads the important pages from relevant chapters. They can provide you with the most important information concerning their chosen subject. Genetic panels follow a similar pattern to this, bridging the gaps in our knowledge. The panels look at complete genes in our DNA that are linked to a certain disease. These tests are a clinically valid and reliable option when analysing diseases with a clear and well-studied genetic origin, such as breast and ovarian cancer.
It is slightly different for the reader who reads the whole book. They invest a lot of time into reading the book (more than the other two), but once they have finished, they will be able to summarise the most important parts of the entire story. It’s the same for genome analysis. We sequence (read) ALL of a person’s DNA and then we select only the most relevant information for a healthy person, so that we can help to prevent illness. This is a far more elaborate process.
When it comes to the cost of each of these three tests, DNA variant analysis is much cheaper, costing between €50 and €150, while reading complete genes ranges from €300 to €800. Both options are cheaper than whole genome sequencing, which naturally has a higher price (just under €2,000).
As well as the value when it comes to cost, this test also increases the amount of relevant information related to diseases that is readily available, i.e. it increases the clinical utility of the test. This clinical utility is what will allow the person to get the most out of their test, e.g. prevent illness more effectively.
Problems arise when the information provided is unclear, or when the information that is promised by the test doesn’t match what is actually provided. Perhaps the first question we ought to be able to answer is, why do I want to get a genetic test done? Do I want to learn more about key elements of my health, or is learning about my family background enough?
Depending on my response, I should focus on comparing companies that offer “genetics for life” versus those that offer me “genetics for fun”. If I want my results to help me improve my life, I will undoubtedly seek out places with the most reliable medical and clinical experience.
If you liked this article you may also be interested in “What is the difference between genetic testing technologies?”
If you want to know more about our genetic tests, or if you need a genetic counselling consultation, please visit our website or contact us.
This article is based on the original article written by Bibana Palao, Chief Product Officer at Veritas Intercontinental.
Bibiana Palao - Directora Departamento Científico
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