Tis the season… well almost anyway! With less than a week to go until the big day your Christmas plans might still be very much up in the air. But, the big question still remains; what do you buy the person who has everything: your annoyingly perfect older brother?
Many companies are now marketing commercial genetic tests as the ultimate Christmas present! Through “the power of genetics”, you can find out whether you are genetically predisposed to like the taste of coriander, if you’re related to royalty (just like Danny Dyer) or whether you’re likely to develop rosy cheeks after you’ve had some festive mulled wine. Perhaps more accurately, you can select what you want your brother to know about himself to give him the perfect Christmas gift!
You crack open mince pies, head online and order a genetic test which will help him to understand more about his ancestry and health. Even better, there’s a 3-for-2 offer, so you order one for your sister and get a free one for yourself – perfect. Job done!
Just in time, the tests are delivered straight to your door. You wrap them up in some cheap paper – come on, this was pricey and you have to cut costs somewhere – and pop the presents under the tree until the big day.
Christmas is finally here. The big man has been and your family bubble are merrily sat around an awkwardly wobbly Christmas table, perched on chairs that you’ve collected from around the house, and there’s a glorious spread laid out. Present time! Your sister and your perfect brother tear open the paper. “Great” … they say in unison, “thanks very much?!”
It’s only after the post dinner slump that they properly explore their presents. You’re all a bit tired and can’t really be bothered to read the info leaflets, who reads T’s & C’s anyways! Careful that you haven’t got any Christmas pudding stuck in your teeth, you vaguely follow the instructions, spit in the tubes and send off your saliva samples. What a fun post-dinner Christmas activity!
After about a month, your brother calls you. “I didn’t know that we’re descended from Norway,” he says. You pause, because you didn’t realise this either. It’s only the day after that your test results come through into your emails.
Now, here is where the problem starts, because your test results don’t show that you’re descended from Norway… now that’s awkward! You wonder if there’s a problem with the test. Was your sample contaminated with bits of Christmas pudding? Perhaps a more likely issue with the results is the ancestral data which your sample is being compared to. The sample which you gave can only be compared to the database which the company has access to. The reference databases for these tests tend to be heavily skewed towards particular demographics of people, typically Western white people, so that might account for the different results you’ve received from your brother.
Then, your sister calls and her results don’t show any Norwegian heritage either. Now you’re more confused than ever. Could it be that the results just aren’t accurate? But, if they are true, you might not even be related to the person who you thought was your brother! It looks like you need to have some serious words with your parents.
Just as you’re about to call your parents an email pings on your phone. It turns out someone else has done a test and given their permission to share their information with potential relatives. You have a cousin that you didn’t know about in Canada. Now you are even more stumped, should you get in touch with this apparent relative just on the basis of this genetic test? Are they really related to you, do you believe the results of the tests?
Perhaps it isn’t all bad though, there are some potential positives to direct to consumer genetic testing. You feel a sense of autonomy over your identity now and in signing up for the test, you consented to adding your information to a giant database, which can be used by the company to develop drugs to treat rare diseases. That’s a benefit right, as long as you know you’ve done it.
You’re about to sit down and watch the Christmas special of your favourite soap opera, another email pings into your phone. To your surprise, scientists have identified a new genetic variant, which has recently been shown to put you at an increased risk of developing Parkinson’s disease. Genetic risk is a tricky concept, you don’t really understand it and you understandably immediately panic that you might be at risk of developing a fatal brain disease.
The whole situation is now causing you quite a lot of stress and anxiety. So, you book in an appointment with your doctor to discuss the results. Your doctor kindly reassures you that the results don’t really make much sense. They are based on skewed data and tests like this are not offered on the NHS in the UK for good reason, because they do not provide definite or clear results. You leave feeling reassured but conscious that you have just put additional burden on an already over stretched health system, during a global pandemic!
What seemed like harmless and fun Christmas presents, have created unintended chaos within the family! Your brother is doubting his paternity and whether his family really are his family. Despite reassurances, you are still anxious about whether you’ll develop Parkinson’s disease and your sister is questioning whether she should book a flight to Canada to meet her long lost cousin.
You had the best of intentions, but this really wasn’t what you wanted for Christmas!
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A huge thank you to the lovely people at NeuWrite who provided feedback and discussion on this blog post. I love being part of this fantastic community 🙂 🙂 :).
Dr Emma Yhnell 