Genetics tests are posted directly to you.
Genetics tests are posted directly to you.

One wish emanates above all others for parents expecting a child – that the baby arrives and develops in a good vein of health.

With a glut of potential aliments waiting in the wings, parental anxiety builds in an already taxing period. What has fuelled this disquiet has often been the fear of the unknown.

However, genetic testing – a strand of scientific assessment that has revolutionised medicine – is easily accessible and comparatively affordable today for parents before they even fall pregnant.

To better understand the process, I undertook the ‘Tiny Letters’ test offered by Aussie firm, Life Letters.

Tiny Letters tests for 148 genetic disorders, from the better known Cystic Fibrosis and Tay-Sachs disease, through to the more obscure Maple Syrup Urine Disease.

It costs $540 for individuals and $990 for couples.

The testing process is remarkably swift and non-invasive. I was sent a package with a small tube and sealable spit funnel. You fill the tube with your spit, place in the supplied return envelope and send back.

Within a few weeks your results are available to discuss with a genetic counsellor. This is where using an Aussie company makes all the difference.

Both before the test and then to discuss the results, included in the pricing is a consultation with one of Life Letters’ certified genetic counsellors.

In the past, it has been an option for Aussies to directly source the results from the US, but without the appropriate genetic counselling, parents can be left confused by what their results actually mean.

“The primary value of Life Letters, and the tests we offer, is to responsibly bring genetic testing to the general public,” says Emma Harrison, one of Life Letters’ genetic counsellors.

“We believe that through genetics people can gain a greater understanding of their own bodies and make informed decisions about their health, and the health of their families.”

Harrison also stresses the privacy reassurances that come with using an Aussie company.

“Many preconception genetic screenings test available in the US, or owned by US companies, abide by US privacy laws.

“As we are an Australian owned company, Life Letters is subject to strict Australian data privacy laws, which we hold all our partners to, no matter where they are based,” she says.

Also read: Could your genes contribute to anorexia?

Also read: Human evolution questioned: 'Big brain gene found humans, not chimps'

Harrison explains that Tiny Letters lets an individual and their partner know their personal risks of passing a recessive genetic disorder on their child, which may cause physical or intellectual disabilities.

“Most of us unknowingly carry at least one genetic change. If you and your partner both carry the same genetic change, there is a one in four chance of having a child with a genetic disorder.

“Whilst this test can’t guarantee a healthy child, it can give reassurance or help a couple make the best decision for their family,” Harrison says.

Personally, undergoing this genetics test was much less about fear and more about wonder.

It is rare to keenly anticipate the results of a medical test, but there is something about genetic testing which is more exciting than that. It is about discovering something intrinsic about yourself that you can’t learn by any other means.

If there is such a thing as looking forward to discovering what’s wrong with you, this is it.

So, what did my result show?

As Harrison mentioned, most of us carry at least one genetic change and my cross to bear on this front was returning a positive result for being a carrier of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, or ARSACS.

“ARSACS is a condition affecting the muscles,” explains Harrison.

“People affected with ARSACS have issues with coordination and problems walking due to the breakdown of their muscle tissue. They can also have difficulty with speech and loss of some feeling in the arms and legs.”

Harrison says people with ARSACS will be under medical supervision to treat the condition with medication and therapies to help with muscle control.

While this is obviously a serious condition, but not one affecting my health directly, it does play a large role in future family planning.

“Most carriers of ARSACS are healthy themselves,” Harrison continues.

“Being a carrier of a recessive genetic condition means that any children you have will have a one in two, or 50%, chance of being a carrier themselves.

“If your partner is also a carrier of the same condition then together you have a one in four, or 25%, chance of having a child born with that genetic condition.”

Harrison says the aim of the test is to identify whether or not someone is a carrier of a condition with the aim of helping them plan their family and make the best decisions for them.

“Knowing whether or not you are a carrier of a condition is often beneficial as it allows you to understand your risks of having a child with a genetic disorder and plan towards a healthier pregnancy.

“Couples who are both carriers of the same disorder can use the genetic information to make the best decision for their family,” Harrison adds.

Latest From 7News