Genetic screening can benefit future generations
FERTILITY issues are, understandably, a sensitive and difficult topic to broach. For many men, women, and couples, the successful and purposeful conception of a child is a frustrating and potentially heartbreaking ordeal. If you are ever unlucky enough to find yourself in such a situation, the world will become awash with unwanted advice, folk remedies, clinical schedules, and well-meaning (but tiresome) strangers. Around you, signs of fertility will begin to materialise almost as if to mock you.
This emphasises the often-overlooked reality that, for those on an uphill journey to parenthood, the path is just as emotional and spiritual as it is medical. But these struggles are also entirely human – and if there is one thing our species is good at, it is overcoming and conquering the problems that have plagued those who came before us.
This concept was on full display at the recent Congress of the Southern African Society of Reproductive Medicine and Gynaecological Endoscopy (Sasreg).
The combined expertise on display at the event is, somewhat sadly, taken for granted by people not seeking solutions and respite to our reproductive concerns.
That which was presented and on display represented the cumulative knowledge of generations of men and women’s efforts at overcoming issues surrounding infertility and other reproductive health concerns. For those dealing with infertility, this congress is not just a light in the dark – but a roaring bonfire.
The concept lying at the heart of this community of specialists, technicians, scientists, and doctors is an understanding of how important information can be in making decisions. Successful treatments, for example, are not reliant on luck but are often tailored to suit the individual and their medical context. Without appropriate information, treatments would remain generalised and akin to a scattershot approach. Diagnosing a patient would be like stumbling in the dark for an answer we don’t even know may exist. If we are to remain in the light and give ourselves all the advantages we need to stay healthy, we must stay informed and make proactive choices – not just for our sake, but for that of our children as well.
Every generation, whether directly or indirectly, has impacted the course of subsequent generations’ development. No matter how calloused and jaded by their difficulties or experiences, each generation has some innate desire to leave the world in slightly better shape than what they found it in – sure, many multi-generational problems persist (climate change, social injustices, wars and strife – among others) but many problems have also either silently disappeared or are on track to be eliminated. The hole in the ozone layer, and the ubiquitous use of lead in our water supply are (for the vast majority of the planet) non-issues thanks to the proactive efforts and understanding of our forefathers and foremothers. These types of hazards, if not addressed, are passed on to the next generation who are then faced with the same choice of ignoring the issue (and passing it along) or attempting to resolve the problem.
Just as the world sets out to ban chlorofluorocarbons to preserve (and regenerate) our ozone layer, parents make dozens of sacrifices and difficult decisions for the sake of their own children’s futures. We all know that being a parent is tough and that the unpredictability of the experience will cause many sleepless nights, but what if you had some foresight into what might happen to your child? Well, although no one can promise that your teen won’t take your car for a joyride, we can begin to speak with greater clarity about their medical futures. Thanks to advancements in the medical sciences, we are now increasingly capable of identifying generational problems that can affect our children on the medical front.
Genetic carrier screening, which was previously unavailable in South Africa locally, now offers the next step in proactive health promotion, giving both parents and children a head start in dealing with potential health concerns. Genetic diseases inherited from our parents are somewhat vaguely understood by the public at large. After all, most of us are aware of the importance of a family history when visiting a GP. But beyond the acknowledgement of their existence, genetic disorders are treated as “an unlucky roll of the dice” to be addressed when they appear, but they do not have to be.
Although many of the genetic traits we inherit are relatively benign (for example, dad’s height or mom’s nose), some can be life-altering, if not life-threatening. Carrier screening – which determines whether a person carries a genetic variation associated with a disease or trait – is not only important for making decisions surrounding pregnancy but also promotes awareness of potential health concerns that may impact the quality of life for parents and children alike. And all it takes is a simple saliva test.
Downstream, if one is faced with an IVF journey, we now can pre-screen candidate embryos identified by IVF specialists and circumvent the implantation of a genetically unhealthy baby.
In addition, women who have experienced the devastation of numerous miscarriages are now able to determine whether this was due to a chromosomal abnormality, giving mothers-to-be as much information as they need to prevent a similar outcome from happening in future pregnancies.
As every politician and celebrity knows to say when ambushed by a camera, “the children are the future”. It’s trite, yes, but true in the most fundamentally existential of ways. For hundreds of thousands of South Africans, children force us to promise that we can do better; they push us to get up and do the right thing for all of us.
Turning to genetic reproductive specialists for genetic screening in South Africa now presents a unique opportunity to do exactly that. Thankfully, couples looking to start a family now have access to local and affordable genetic screening with incredible turnaround times. This stands to revolutionise the reproductive health landscape in South Africa as we collectively endeavour to limit the transfer of avoidable genetic diseases to our children and future generations.