Gene therapy stands on a precipice. It is poised to make a massive positive impact on the lives of many with genetic disorders. However, as research moves forward, it is important to consider the human concerns that are involved in implementing these practices. If done well, it can be a huge boon for patients. If done poorly, it can impact entire communities.


Children with developmental deficits are a large patient population to keep in mind. If a one-time gene therapy can be successful for restoring function, it’s incredible. For this to be effective, there must be new emphasis placed on proper diagnosis and ensure that children are given the most specific treatment possible. With many of these diseases, it’s quite difficult to figure out how many patients are out there—and if they are at a point in their lives where treatment would even be effective.


Much discussion centers around the value of correcting genetic issues. There’s a lot of value in being able to find a single gene defect and correcting it with onetime therapy. This isn’t a solution for every disease, though. For degenerative diseases such as Parkinson’s, gene therapies may not be the solution. With neurons decaying and dying, therapy will not be able to make up for the deficit. But for kids born with an inborn error, they can still be treated and replace what is missing. If a disease is addressed early enough, they can still catch back up to the developmental curve.


This is why early diagnosis is so important. Many untreatable disorders are not properly diagnosed, so it’s very difficult to get a good read on patient populations. The prevailing mindset has been that, without an incentive to diagnose a condition that can’t be solved, they fall into the background of some broader category. I believe that, with the advent of gene therapy, there needs to be a real drive to better identify them.


For that matter, there will be value in the future in understanding the root genetic causes of any disorder. As more therapies become available, taking a deeper dive into causes can help gather more data to distribute treatment in a timely manner. Physicians have always been taught to be cautious, and that many diseases can be fixed with vitamins or something simple. These cautions can be channeled into taking the time to take more accurate diagnoses. This, in turn, will allow us to gain a better cross-section of populations that has not been as well-developed as it should be.


So what do these changes look like? For one thing, we can support decision making for pediatricians. Additional education about presentation of symptoms for uncommon genetic disorders can go a long way toward reevaluating these practices. Additionally, better genetic testing based on known disorders can provide a more standardized and specialized method for early detection. It would also be valuable to retroactively identify children with these disorders, and make sure that they are routed through this new approach.


With pharmaceutical companies on the verge of bringing new gene therapies to the marketplace, it becomes a question of the practices that we can promote to ensure that children are treated correctly. As there have been few answers in the past, a cultural shift needs to happen to ensure that treatment is available and distributed in a way to make the most impact possible.