Dr Emma Yhnell

The rise in the availability and accessibility of ‘Commercial Genetic testing’ (genetic tests offered by commercial organisations that are often completed at home and then sent back to the company) has sparked a lot of debate recently.

After reading a BBC New Story – Genetic tests: Experts urge caution over home testing. I wanted to focus this blog post on this emerging use of genetic technology, my views and where it might take us in the future.

Genetic tests done at home?

Genetic testing is something that has been offered in clinical settings for some time. If you were thought to be at risk of a particular hereditary condition, medical professionals may introduce the idea of genetic testing. Genetic testing has traditionally been undertaken in heavily regulated environments with the support and guidance of medical professionals, genetic counsellors and genetic testing services. The reasons for this are predominantly because the results of genetic testing could reveal life changing information. Before people have these tests they need to be fully informed about the information that they might find out about and the potential consequences. The process usually involves counselling and extensive discussion prior to a decision on whether or not the individual would like to undertake a genetic test. But home based genetic tests present a new form of testing, that are done at home by the individual, the sample sent away and the results sent back in the post.

What information can you find out about?

It is now increasingly common for people to pay commercial organisations to test their genetic information. Some of these organisations offer genetic tests regarding fairly harmless questions, such as whether you are genetically disposed to prefer particular foods. But increasingly people are testing for their risk of particular diseases. Genetic testing for diseases is complex. There are some instances where a single gene causes a condition, such as Huntington’s disease, but often genes confer risk and do not directly cause disease. The concept of risk is an incredibly difficult thing to tackle in terms of diseases. Your risk of a particular genetic condition may be increased based on your genetics, but what can you do with that information? Is there anything that you can do about your risk of developing certain conditions such as Alzheimer’s disease? And who would you have to tell, for more information on this topic specifically see my earlier post Huntington’s disease legal case is decided

What are the implications of individuals and society?

Something that I have become increasingly concerned about over the last few years is the fundamental issue of informed consent. In order to take part in research or medical procedures people need to be fully informed about the risks, harms and potential benefits before they can agree (or not) to take part. I want to ensure that anyone using these services is fully aware of the potential implications of the information that they may find out.

There are potential risks that you may reveal information which will directly impact your family members. For example, you might discover your parents are not who you thought they were, you might discover a genetic variance that you could have passed on to your children and if you were to receive information regarding increased risk of genetic conditions, you may understandably feel worried or distressed.

What does the future look like?

I am concerned about the commercialisation of genetic testing and that is why I am writing this post. I am also calling on commercial providers to be more transparent and open about the potential risks and benefits of their tests and to provide more support to their customers. Commercial genetic testing has really interesting potential implications and I’ll be keeping an eye on how the world of commercial genetic testing develops in the next few years.

I’d also like to thank Dr Mark Postans for his help writing this blog post and his helpful discussions on the topics – cheers Mark :).