As technology advances and people become more genetically aware, genetic testing is on the increase and seemingly even entering people’s homes with self-test kits. The advancements in modern science and technology allow a broader range of tests, and they are often more accessible than you might think. We have to take some with a pinch of salt though, as screening tests do not offer diagnoses, and can sometimes be based on very weak science.

Newborn screening

An area where screening tests have existed for over half a century, however, is newborn screening. Whenever a child is born, they are screened for some common newborn illnesses or illnesses that can be identified from birth. The illnesses that are routinely screened for, however, vary depending on the location that the child is born.

As a result of the variance in newborn screening, and also the fact that genetic testing is becoming such a commodity, private companies/labs are able to offer their own direct to patient newborn screening tests, like our Outlook test.

So, we know that newborn screening tests are accessible, either through funded or private healthcare systems, but why would you pursue newborn screening for your child?

Education and preparation

For some people, not knowing what to expect can be scarier than anything else. Not only do you not necessarily know what your child has or is predisposed to / at a higher risk from, but as a result, you don’t know what this means for your child or what life has in store for them either. Unfortunately, the one thing screening tests cannot do is tell you when the onset of the condition will occur if it is going to develop later in life.

Even though you may not fully know when to expect it, it may be that through knowing about it being a possibility, you are able to fully educate yourself on the condition so that you at least know what to expect if it were to develop, and prepare for what next steps are needed e.g. a doctor’s appointment, different/additional medication, or diet modification.

Some conditions will possibly affect the development of the child, so knowing about these at the earliest possible point – birth! – is invaluable to minimise the impact that it can have.

Early symptom identification

Knowing what to expect through earlier identification and preparation means that you are more likely to be able to identify the signs and symptoms, and therefore possibly be able to notice these sooner and take preventative/mitigating steps even faster.

In an ideal world, nothing of note would be identified, but if you are looking at dietary intolerances, for example, this is something that could be identified at the newborn screening stage and may not become apparent until after their diet changes.

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Having this knowledge to hand will ensure you are able to monitor for any symptoms that may already be present, and if not, you can keep an eye out for their onset to know that that food/diet no longer works for your child.

When you are introducing your child to new foods, it is normal for there to potentially be an extreme reaction, as it can be a new flavour, a new texture, etc., and you, therefore, may not recognise, for example, if they are having a specific taste receptor response that is highly unpleasant and different to what you yourself experience. Additionally, your child may begin reacting to dairy in their diet soon after milk is no longer the primary food source, and it could take some time to identify dairy as the problem when there are so many new foods being introduced.

Imagine you have educated yourself on the possible symptoms of the conditions, prepared for them to potentially manifest, and now have identified that symptoms are showing. Instantly you can take action to do whatever possible to remove the discomfort for your child, and you have an immediate idea of what the problem may be.

Knowing of possible future intolerances allows you to look out for the signs and symptoms, and monitor their onset/severity to decide on the best course of action. Knowing this information in advance means that you can also plan the transition to a new diet, to ensure the child is still receiving the same nutrition, but from foods where these unpleasant symptoms will not occur. Advance knowledge allows you to tailor their treatment and implement this at the earliest possible opportunity, and subsequently minimise the discomfort induced / time exposed to things that will cause these unpleasant reactions.

Fast Track Diagnoses

Some parents, upon learning that their child has a condition that is an intolerance to something (e.g. gluten), will opt to remove this from the child’s diet before any symptoms arise. Personally, I do not know if this is necessary as there is a chance the condition will never manifest, or that conditions can manifest independently of the genetic information shared, but I understand the want to minimise and even remove the risk of exposure, especially when this can cause long term damage.

Referring back to point 2 however, advance knowledge of the potential conditions could at least fast track the diagnosis if and when the child starts to show symptoms, due to early symptom identification, and therefore should hopefully also minimise the exposure risk/chance of long-term damage as a result.

For example; a number of dietary intolerances have very similar, and sometimes quite generic, symptoms. If symptoms were to arise, a number of different routes could be taken to isolate and identify the causative factor. In the meantime, you are essentially having to invoke these uncomfortable or even painful symptoms on your child, simply in order to help identify whatever is causing the issue, and hopefully eventually receive a diagnosis. Advance knowledge means that you can instantly tailor a diet, for example, to see if the symptoms alleviate, therefore making this food source the likely cause.

There is also the chance that an invasive biopsy will not be required for diagnosis, as can be the case, as the ambiguity is removed and the probable cause of these generic symptoms can be isolated and immediately mitigated.

Medical Intervention

Sometimes the conditions identified at newborn screening are too serious to be managed by something as simple as a dietary change. Sometimes this can be requesting different antibiotics and also implementing frequent hearing evaluations, or implementing other continued monitoring and tests to ensure that the appearance and worsening of symptoms is identified at the earliest possible opportunity.

In these situations, the early identification may seem bittersweet, as you know it is something that is possible for your child’s future, and that there is not any real way of preventing it. However, it is still key to identify this as early as possible in life, to allow the earliest possible intervention whenever that time comes. For earlier onset conditions, early intervention and treatment could assist with minimising the impact it has on the child’s development, e.g. communication skills, or allow you to put extra support in place to ensure things like education and vocational skills are not impacted.

For any condition, knowing that they are potentially going to impact your life at some point can allow you time to mentally prepare for what that would mean for you / your current lifestyle. Newborn screening allows this from the earliest possible opportunity, and the maximum possible time to predict, plan and prepare for how this could impact your child’s life.

Leanne Toon of Future Health Technologies

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