Published January, 2019
A dimly lit room, an old woman wearing heavy gold jewellery, sitting cross-legged and looking into a crystal object, revealing your deepest fears and desires and what your future holds. If that’s the image that popped into your head when you read the title, science has a big surprise.
The concept of predicting the future stems from superstition and magical thinking. At first glance, this has very little to do with science. The idea that there's a pattern to the universe and a select few have the power to access it, has been cast out both by religion and science. But earlier this year scientists made a breakthrough which could suggest otherwise.
A simple genetic test that determines the individual susceptibility to common diseases such as diabetes, depression, heart problems, cancer, or behaviours such as tobacco addiction, insomnia and even measures a child’s IQ - sounds like an excerpt from a sci-fi novel. Yet in the last decade, millions of pounds were spent on research into the human genome, with scientists drawing from the increasingly larger pool of personal genetic information they have access to, and finally reaching conclusions about how much of our life is inscribed in the DNA.
So, what does this imply for our future and that of our children? Could it ever be possible to take a look at what diseases we are likely to suffer from, or find out if our children will have drug tendencies as teenagers? Are designer babies the future of reproduction? And how will all of this affect the decisions we make for our lives?
In 2006, Professor Rory Collins established UK Biobank, what is now one of many organisations collecting genetic data from for medical research or private use. UK Biobank has DNA samples from over 500,000 volunteers, as well as additional information about their eating habits, physical activity and lifestyle. The objective of the project is to find connections between the human genome and the development of common medical conditions.
Professor Kenneth Muir of the University of Manchester, one of the leading names of the project, explained that
“what determines whether we get one disease or the other is a combination of both our lifestyle and our environment, but also whatever genetic predispositions we may be carrying."
A breakthrough technology called “polygenic risk scores” emerged in February 2018, after months of extensive research into the subject. Scientists can identify genomic variants associated with complex diseases by comparing the genomes of individuals with and without those diseases.
This progress can be partially attributed to the large genetic pool created recently by commercial organisations such as 23andMe and Ancestry.com. By analysing DNA samples they get sent, they provide extensive information about their customers' heritage and ancestors.
But they don't destroy the samples after they've produced the report. Instead, they hand them over to researchers, who have now access to huge amounts of genetic information. By comparing the genomes, they can then find similarities and predict the risk of diseases such as diabetes and heart disease, two of the most widespread medical conditions.
Professor Ali Torkamani, director of genomics and genome informatics at the Scripps Research Translational Institute in California, has recently launched an app which can assess the chance of coronary artery disease. This is one of the first attempts to turn the polygenic risk scores into a publicly attainable technology. Together with his team, he firmly believes in the potential such genetic research has for the future of medicine and technology.
“It seems you could improve the efficiency of many of the preventative screens using genetic data,”
he says, referring to the currently existing screening tests for various types of cancer.
Screening tests have been around for many years, with doctors all around the world advocating for them to be done on a regular basis, even without any symptoms. However, these tests are largely associated with a high false positive rate. Professor Torkamani predicts that in the future, only people with high genetic risk will have to be screened. This will result in higher accuracy and less panic.
In 2013, actress Angelina Jolie underwent a double mastectomy after discovering a ‘faulty’ gene that put her at severe risk of breast cancer, the same disease that took her mother’s life six years earlier. She’s one of the first public figures to openly talk about genetic predisposition to a disease. But if the new technology proves a success, many more might follow her example in the future.
So, when it comes to the polygenic risk scores, how big are the chances that we will use them commercially? One of the promises of this cutting-edge technology is that in as soon as a decade or two, everyone will be given a report card at birth - which will include information about their susceptibility to disease, but also various measurable personal traits such as intelligence, height, genetic weight, eye colour, chance of boldness, etc.
Ideally, this will help people make educational, career and medical plans early on. As the technology is not age-dependent, people of all ages will access their own genetic data, as long as they are prepared to undergo a few simple DNA tests.
Genetic testing can go even further. Pre-birth human profiling - one of the proposed uses of the polygenic scores, is as scary and futuristic as it sounds. One prediction is that a new wave of ‘designer babies’ will emerge from parents testing their IVF embryos. They could then choose the smartest, healthiest embryo and guarantee a life free of medical bills and full of diplomas. And as utopian as that sounds, a company already offers polygenic risk scores for embryos.
Genomic prediction offers a wide range of genetic risk scores for common diseases, and what is a lot more controversial - a ‘mental disability’ test.
“The idea of selecting an embryo based on their genetic scores is repugnant but technologically feasible,”
says professor Peter Visscher of the University of Queensland, Australia.
As with most innovations in the area of genetic testing, a substantial part of the scientific world remains sceptical, doubting whether the method could ever be accurate and efficient enough. Recently, it was discovered that most common diseases are not caused by a single gene mutation, as was the case of Angelina Jolie, but more often than not, hundreds of changes in the genome have to be detected to assess the risk. That means enormous resources and data poured into a single case of disease prediction. And this does not account for external factors such as lifestyle, changes in the environment and physical activity.
However, scientists such as professor Torkamani are working tirelessly on developing new ways to use the recent breakthrough. Those with a higher risk of heart disease, for example, could be advised to use a smartwatch with a heart monitor. This way, the condition could be detected in early stages, alarming the person so they can take adequate measures early on.
But what happens when everyone is given a genetic risk score? If, for instance, parents know that their child will grow up to be smarter than the average, they will naturally start saving up to afford the best education possible. But what if the child is believed to be below average? Does this mean all efforts of sending them to school will be doomed anyway? So they can save themselves the trouble? Or if the child has a higher genetic predisposition to drug addiction, are they going to suffer their parents’ overprotectiveness their whole life, even though they have no actual intentions of taking the wrong path? And if there is a whole new generation of ‘designer babies’, wouldn’t all future parents be tempted to follow, so they get the best baby possible?
In any case, the future is here and there’s a good reason to believe that in a few years your phone, smartwatch or laptop will replace the crystal ball and the Tarot deck as a fortune teller. With the increasing resources available, technology will once again completely change the way we live.
Originally appeared in FRAMED. magazine