Testing by a clinical geneticist or a publicly available DNA test: what is the difference?

Not so strange, because in both cases statements are made on the basis of your DNA. Even so, there are quite a few differences between a publicly available DNA test and testing by a clinical geneticist. In this article we look at them in more depth.

What is the purpose of the test?

Clinical genetic testing by a clinical geneticist almost always has a specific medical indication. For example, a hereditary form of cancer that runs in your family. The main aim is then to detect this specific genetic abnormality.

Publicly available DNA tests are expressly not intended for targeted medical testing, but have been developed to inform you in a broader sense about your genetic predisposition. For example, an iGene DNA test gives information about your hereditary predisposition to more than 10 different conditions. You also receive, for example, a pharmacogenetic profile, in which you can see how things stand with your personal sensitivity to a large number of medicines.

What kind of information does the DNA test give you?

Medical science has traditionally focused on diagnosing and curing. Testing by a clinical geneticist is also ‘curative’ in nature at its core. As we indicated above, the aim is usually to detect one particular genetic abnormality, with possible medical action in mind.

Most publicly available DNA tests, on the other hand, focus on prevention (the more serious tests do, at least). So does the iGene DNA test. In addition to information about your predisposition to various conditions, you therefore also receive lifestyle advice. These recommendations are ranked partly on the basis of your DNA profile, to make them even more relevant and useful.

Which genes are looked at?

In view of the purpose of the test, a clinical geneticist carries out very precise testing of one or a few genes. These are often so-called high-risk genes.

An example is BRCA1 and BRCA2; two genes that are also known as ‘breast cancer genes’. Mutations in these genes are relatively rare, but that changes if cancer occurs in your family at a strikingly young age; the chance of such a mutation is then much higher. In such cases it is advisable in any event to check whether you are eligible for clinical genetic testing by a clinical geneticist.

Since 2025, iGene no longer reports on any BRCA/PALB2 mutations. You can find more information about this on this page.

Low-risk genes, however, are usually left out of consideration in hospital testing. Yet mutations in them occur much more often, and a sum of such mutations can certainly lead to a (considerably) increased or reduced risk of certain conditions. An iGene DNA test does screen for many mutations of this kind. The relatively common CHEK2 mutation (c.1100del-C) is also mapped by iGene.

Accessibility for the general public

The name says it all: publicly available DNA tests are available to everyone. This is in contrast to clinical genetic testing by a clinical geneticist. You are only eligible for such testing with a referral from your GP. And you only get that referral if you can show that there is a medical reason for it.

In discussions about DNA testing it is regularly suggested that the subject is too complicated for the ordinary citizen. And that, partly for that reason, the decision on having a DNA test carried out should be left exclusively to medical professionals. At iGene we think fundamentally differently about this.

We believe that everyone has the right to their own DNA data, and that most people are perfectly capable of deciding for themselves what is and is not good for them. As far as we are concerned, the complexity of the subject is not a valid argument for denying individual citizens access to information about their own DNA.

Costs and reimbursement

The cost of a so-called ‘single consultation’ with a clinical geneticist (a conversation without follow-up testing) is approximately €450. ‘Complex counselling’, which also involves extensive genetic testing, costs approximately €1,500. These costs are reimbursed from the basic health insurance. Of course you do have to pay the part that falls under the excess yourself (in 2021 at least €385). An iGene DNA test, which is not reimbursed by your health insurance, costs €339.

Why is our test, which also maps a larger part of your DNA, so much cheaper than a hospital test? In the first place, individual guidance by a clinical geneticist is of course more expensive than offering a test online. But more importantly: in recent years there have been enormous innovations in the bioinformatics sector. We gratefully make use of these innovations to be able to offer our test as affordably as possible to a broad public.

Personal guidance

With testing by a clinical geneticist you are personally guided in all cases. With most publicly available DNA tests, which you usually order online, this is not the case.

At iGene it is always possible to get in touch when you have questions about the results, but on medical matters we cannot offer advice or personal guidance. It is possible, however, to share and discuss your results with an affiliated healthcare professional.

Not a replacement, but a supplement

Finally, we would like to emphasise that we regard publicly available DNA tests as a supplement to traditional medical clinical genetic testing, not as a replacement for it.

Is there a medical indication for clinical genetic testing? For example because a certain form of cancer occurs at a young age in your family? Then your GP is the first person to talk to, to assess whether you are eligible for clinical genetic testing by a clinical geneticist.

Would you like a general picture of your personal predisposition to several conditions? For example to benefit from this information when it comes to your lifestyle? Then consider ordering a publicly available DNA test yourself. (See also: is a DNA test right for me?)

iGene in the media: our contribution to the discussion

Also watch and listen to earlier contributions by iGene to the public discussion about publicly available DNA tests:

• NPO RADIO 1De Nieuws BV: A home DNA test, but what does such a test actually tell you?Broadcast on NPO Radio 1, in which iGene director Roy Haan talks with associate professor of Biomedical Genetics Marc van Mil.Listen to the broadcast (opens in a new window)
• BNR NIEUWSRADIOBNR: ‘Better checks needed on commercial DNA tests’In this broadcast by BNR Nieuwsradio, Roy Haan responds to Marieke van Dooren of the VKGN (Vereniging Klinische Genetica Nederland), who is calling for better checks on commercial DNA tests.Listen to the broadcast (opens in a new window)
• NOS-JOURNAALDNA self-tests: iGene on the NOS newsAs part of the public discussion about DNA self-tests, Roy Haan was interviewed in late 2018 for an item on the NOS news.