is a medical doctor and social commentator on medicine, science, and technology. He was previously on the board of the charity Medact and is editor of the London Progressive Journal.
A brave new world or the next step toward the erosion of all privacy? DIY genetic tests claim to be able to identify your risk of serious illness, but there are concerns over both their accuracy and security.
We live in uncertain times. For many people, life is increasingly unpredictable and influenced by events beyond their control. Amid all this uncertainty, it’s natural for individuals to cling on to any shred of stability and try to determine what the future has in store.
So it’s no surprise that home genetic testing kits have become popular in recent years. These kits use small amounts of DNA, usually taken from a saliva sample or mouth swab, to inform an individual about their ancestral origins and their future risk of developing certain illnesses such as Alzheimer’s disease, type 2 diabetes, Parkinson’s disease or a variety of cancers based on the presence of various gene mutations.
These tests are becoming more advanced and are now sold online by a growing number of companies who claim they not only detect the presence of faulty genes, but also provide information on which foods to avoid, which nutrients your body needs, and how to have an effective workout based on your genetic profile.
Last year, UK doctors expressed concerns about the accuracy of the results provided by consumer DNA testing kits and called for greater regulation after it emerged that some women were wrongly informed that they carried mutated copies of the BRCA gene which increases the risk of developing breast and ovarian cancer. In one case, a woman narrowly avoided having unnecessary breast surgery after National Health Service labs fortunately re-ran the test and determined that she did not have the faulty gene.
Conversely, it emerged that one type of genetic testing kit failed to detect the presence of a rare BRCA mutation in the majority of cases, thus providing false negative results and misleadingly reassuring consumers. GP surgeries and NHS genetic clinics are also reportedly finding themselves picking up the pieces of these home test kit results when faced with anxious and confused patients. Professor Anneke Lucassen, president of the British Society for Genetic Medicine and a consultant in clinical genetics, has commented that “genetic tests sold online and in shops should absolutely not be used to inform health decisions without further scrutiny.”
Earlier this year Superdrug, the UK’s second largest health and beauty chain, began selling the CircleDNA home testing kit which is claimed to be “the world’s most accurate.”
Avi Lasarow, the international CEO of CircleDNA’s parent company, commented: “For the first time, high street shoppers now have access to their DNA information, which in turn can empower them to personalise, tailor and curate their lifestyle to best suit their genetics. This huge increase in knowledge can only be seen as a good thing when it comes to the health of the UK.”
The premium version of the kit costs £499 ($613) and is said to provide information on over 500 genetic markers including one’s risk of illness, food intolerances, responses to medication, personality and behavioral traits.
Satisfying people’s curiosity may seem like a bit of harmless fun, if only the accuracy of these genetic test kits could be assured. However, it is important to point out that one’s genetic makeup does not determine their future.
There are thousands of genes in the human body that code for a myriad of physical and behavioral traits, as well as disease risks. Some genetic variations may increase your risk of developing illnesses such as certain cancers, diabetes, depression or Alzheimer’s disease, but are not the only factors determining whether you will develop these conditions.
Environmental factors and lifestyle choices such as smoking status, diet, living environment and exposure to stress also play a major role.
With the exception of a small number of typically rare disorders where a single gene mutation is solely responsible, most illnesses are multifactorial in nature – caused by a combination of genes and environmental factors, each one of which might either increase or decrease the overall risk of disease development. Of course, healthy genes are a good start, but by no means ensure health in later life.
Hacking and discrimination
From time to time, we hear about companies being hacked and losing their customers’ credit card details or learn about contractors losing individuals’ medical records and other identifiable data. Similarly, there is no reason to doubt that genetic data cannot be stolen or shared with third parties.
There have been reports of thousands of DNA testing companies leaving their clients’ results on public servers for all to see. Hackers have also attempted to access this information. Another DNA home testing company secretly gave the FBI access to a database of its customers’ genetic records to assist the bureau with unsolved crimes. It is not too much of a stretch to imagine thousands of people’s genetic records being sold on to scammers or being used to extort individuals for ransom.
Insurance companies and banks would also be keen to get their hands on this data to try to determine a customer’s chance of developing a serious medical condition in later life or to calculate the probability that they will live long enough to repay a loan. Some people might develop an unhealthy fascination with discovering the genetic profiles of politicians and famous people.
And this, of course, also paves the way for a future where children have DNA tests in early life and receive genetic report cards detailing their future risk of illness, in turn affecting their future employment opportunities, insurance premiums and loan eligibility.