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2024

Proactive screening can limit the transfer of avoidable genetic diseases to youth

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By Adele Kazilsky

At the personal level, we are all somewhat innately aware of how small acts of chaos derail our personal journeys.

Sleeping through an alarm, for example, can set the stage for a mad dash of events, culminating in disaster across many facets of life – whether it’s missing a date, a promising job interview or a reminder to take something out of the oven.

But at an even smaller, biological scale, slight aberrations can result in a misery that compounds beyond the cellular level.

Infertility and problems experienced in conceiving a child, for example, are more than biological issues – their effects can ripple through the lives of those affected, bringing pain and heartache to many would-be parents.

Then, there are the dangers faced by those who are able to conceive: despite the best wishes and hopes of all would-be parents, fears surrounding the health of the child are neither unfounded nor easily dismissed.

Frustratingly, for both, micro influences have macro effects on the future lives of those striving for happiness.

How health decisions taken today can shape future outcomes

For the most part, our lives are dictated by chaos theory, wherein small acts and forces can alter our lives in drastic ways.

The approach instils in us a certain sense of paranoia, a fear of deviating too far from perceived perfection, lest we face the magnified consequences of our missteps later down the road. For instance, diligent studying for every test is driven by the long-term repercussions of failing our exams.

Even at the theoretical level, the example highlights the dangers of seemingly insignificant actions – the famous hypothetical of butterfly wings potentially influencing the formation of a typhoon halfway across the globe.

As risk-averse creatures, we have a lingering, primal tendency to focus on the negative (the persistence of news media is proof of this).

But therein lies the paradox: just as a small mistake can leave a lasting imprint in a negative way, so can small acts of generosity, assistance and goodwill lead to incredibly positive outcomes in the long-run.

If the unconscious actions of large actors and forces can have such lasting effects on those in its wake, think what good can come out of intentional beneficial efforts.

However, in a world that often leans towards selfishness, it can be challenging to identify acts of benevolence.

Thankfully, we have people within our South African communities who have committed themselves to championing small decisions among us today, to improve the well-being of our people tomorrow.

Carrier-screening labs offer a good example.

They work to continue a legacy of well-being for our communities, offering support, empathy and powerfully relevant information through testing to those embarking on their parenthood journey.

Some of the institutions were born from individual families that struggled with conception and fertility issues.

Their establishment underpins the resilient spirit that characterises most South Africans, who will seize any opportunity to help improve the lives of others as a result of their own experiences.

Where one couple faced pain and difficulty, others will now find answers as a result.

Fittingly, genetic aberrations serve as a perfect example of how chaotic and messy life can be. Amid considerations of other health concerns, such as the healthy development of an unborn baby’s lungs, something as small as a single base change can cause as much, if not more, harm than a physical disability or injury.

Many would-be parents do not necessarily consider the risks when taking the first step towards parenthood.

However, with experience and empathy, in the trusted hands of reproductive specialists in our country, the chaotic factors affecting our everyday lives are buffered and accounted for through the proactive actions of those around us.

Adele Kazilsky is the CEO at FutureGen Labs.

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