Dr Laila Abdel Aal Alghalban
Would you like to have your genome, the blueprint of your body, sequenced? Don’t worry about the cost; instead of $2.7bn in 2003, it is only just €50 (£45) now. The good news is that an increasing number of people are doing DIY genetic testing at home. It is very easy; some cheek cells, a hair, a blood or saliva sample and an app are all what you need to get the job done. Do you want to trace your family tree? Would you like to know the future diseases or health risks you are predisposed to? Would that be distressing to you or it would be a good opportunity to take preemptive attack on likely life-threatening diseases? Are you afraid that hackers of biobanks would have access to your personal genomic secrets or the companies working in the market would mismanage or profit from your data without your consent? You might want to ask me the same questions back.
Curiosity vs. fear
Actually, I am of two minds; to hear that I am predisposed to an illness would be so painful and scary. On the contrary to be in the dark when it comes to the genetic information interpreting possible health problems and whether they are the results of inherited genetic problems or due to lifestyle choices and changes, one would miss real chances of acting early to combat them. Let us have a look at the pros and cons of the argument and some stories of people whose curiosity crush their fears and get their genomes sequenced in order to see how such scientific actions impact people.
The language of the human body
The human genome is the container of a complete set of our DNA coded in billions of letters and found in every cell in our body. It includes all of our genes, all the information and the instruction manual on how trillions of our body cells are built and maintained. It controls protein creation, the cell cycle of growth and division. Instruction errors can cause various disorders. Believe it or not; all humans are 99.9 per cent genetically identical. Just 0.1 per cent difference causes all these deeply-rooted racial scars brimming the history of humanity. More interestingly, humans share up to 98 per cent of their genes with chimpanzees. Only this tiny fraction of 2 per cent makes us humans. We also share most of our genomic instructions with animals and plants. we share over 60 per cent of our genetic make-up with bananas. Currently, DNA analysis is commonly confined to four leading databases, operated by Ancestry, 23andMe, My Heritage and Gene by Gene.
The case for
Genome sequencing is revolutionising the diagnosis of many rare conditions, sparing the patients a lot of exhausting tests and agonising diagnostic procedures. The more doctors know about our bodies, the more personalized treatments they can tailor to tackle our health conditions, and the more they know about the nature of diseases and our response to treatment. Fortunately, many hospitals in Britain offer genomic analysis for free to the patients suffering rare forms of epilepsy along with some family members to see if the disease runs in the family as a result of faulty inherited genes or is acquired, due to our lifestyle.
Genetics and environmental factors
Genomic sequencing would make it easier to understand the interaction between genetics and the surrounding environment of the individuals. It helps identify the genes responsible for fatal diseases and makes it possible to have some intervention to edit such genes by removing or replacing them. That intervention is termed gene therapy or gene editing, which is highly controversial on ethical grounds. So genomic analysis is a decision-making trigger.
Windows of hope
Early genetic treatment of an infant suffering a rare case of epilepsy leads to a significant improvement. “She is communicating, full of life, her epilepsy is gone and she is no longer violent,” her mum says to the BBC. Other people having the risk of many fatal diseases, fortunately, show similar improvement. In fact, there are daily leaps in genetic therapy, which open the windows of hope for patients beyond boundaries. The biobanks which have these data are instrumental for such leaps.
Life adjustments
Many people who had their genomes analysed report that the information they got empowered them and encouraged them to make life adjustments to cope with the newly-discovered health conditions. They said that they wished they had known about their health risks earlier. After the immediate shock they experienced when they know the results, they made a complete make-over; they exercise more, eat less, stay less indoors, and so on. However, a study shows that only half of the participants started changing their lifestyle to adept to the risks ahead.
The case against
How genetic data are stored and the privacy procedures taken to prevent possible leaks and breaches remain people’s top concerns. Some reports suggest that data on particular diseases were sold to pharmaceutical companies. Fears that data could be confiscated by authorities or used in criminal investigations are growing. Genomic analysis of the relatives of criminals, that could eventually lead to the criminals themselves, is usually done without the relatives’ consent.
Moreover, the genetic data in most of the cases are believed to be too general. Patients were told not to smoke, exercise more and drink in moderation. They said that they didn’t need a genetic test to tell them that. Paradoxically, patients with chronic conditions, for instance, did not make a significant behaviour change. They stuck to their routine and lifestyle.
Surprisingly, other studies report that some people whose tests show that they have potential risks did not develop any symptoms of these risks.
And now are you ready to decide whether to have or not to have your genome sequenced? Hope you are!
Finally, this argument would not continue; so willingly or unwillingly the time when having a routinely genetic profile to babies at birth is coming super soon.
Laila Abdel Aal Alghalban
Professor of Linguistics
Faculty of Arts
Kafr el-Sheikh University
Email: [email protected]
