Genetic testing is like a detective story—it can uncover the mystery behind otherwise undiagnosable genetic diseases. Just like a good detective provides reliable solutions in crime investigations, genetic testing can provide a reliable diagnosis of an otherwise undiagnosable disease by connecting many dots, e.g., symptoms, family history, genetic makeup, and so on, and give a better understanding of the condition.
Let's face it, living with a genetic disease can be quite a challenge, and getting a proper diagnosis can take a while. Not to mention the emotional rollercoaster that comes with it. The sad truth is that most doctors, even in developed countries, often do not have adequate training to diagnose rare genetic diseases, and it can take multiple visits to multiple doctors before getting a proper diagnosis. The situation is even more challenging in resource-constrained countries where access to genetic testing and specialized healthcare is limited, e.g., Bangladesh. Genetic testing has the potential to make the process a lot smoother and less of a guessing game. It can provide answers, and it can give a sense of closure.
Another perk of genetic testing is that it can identify other family members who may be at risk for the same condition. Early detection is key, and genetic testing can be a game-changer in terms of managing the disease. It can also inform reproductive decisions, such as whether to undergo prenatal testing or to consider using assisted reproductive technologies.
However, the most crucial point is that if people do not do genetic testing now, we won't have any idea about the genetic epidemiology of genetic diseases in a country, and hence, we won't get access to genetic medicine in the near future. Access to genetic medicine will only be delayed and delayed, and in the meantime, many more patients will fall into the trap of getting genetic diseases that could be easily preventable. Genetic testing is the key to unlocking the door to genetic medicine and is the first step toward personalized medicine. By understanding the genetic makeup of a disease, scientists can develop targeted therapies that will be more effective and have fewer side effects.
Of course, genetic testing is not without its limitations. It can be costly, and it may not be covered by insurance. And there is always a risk of psychological distress associated with receiving a positive test result, mainly if the condition is incurable or life-threatening.
But let's not let these limitations hold us back. The benefits of genetic testing for currently untreatable genetic diseases such as muscular dystrophy outweigh the risks. Genetic testing is like a good detective; it can solve the mystery, provide answers to diagnosis questions and improve the understanding of the condition. It's worth the investment for patients and their families and can be a step toward a better future. In Bangladesh, where access to genetic testing and specialized healthcare is limited, it is more important than ever to invest in genetic testing for a better future, not only for individual benefit but also for greater benefits in the future.
Saeed Anwar
Edmonton, Canada