When you fall in love and decide to start a family you often feel like you are in a bubble into which no bad luck can go. You feel the happiest you’ve ever felt and the thought of the addition of a baby only adds to that positive glow.
That’s not reality, however, for thousands of Australian families. Sometimes parents can unknowingly carry particular genes which may result in a terminal and debilitating medical condition in any child they conceive, the most common of which are Cystic Fibrosis (CF) and Spinal Muscular Atrophy (SMA).
Genetic testing is available in Australia for couples who want to be made aware of potential risks resulting from the combining of their genetic material, however it is heavily regulated and expensive. Tests must be performed by medical professionals who normally use a blood test to determine any risks, after which genetic counselling is immediately offered.
However in America, a company just released an at-home genetic testing kit that only needs a saliva sample from both prospective parents to determine genetic risks. It’s called VeriYou and it has been released by the Good Start Genetics Company who are selling it via Amazon.
VeriYou works by analysing DNA found in a couple's saliva. Once the test is ordered and received a couple needs to activate it and provide basic information which a physician analyses. The test is then sent to a lab and results provided. The test is just the start of a process of genetic counselling in America whereby couples can make informed choices about how best to start a family together.
On paper, the test seems like a good idea. For people who are dating and considering whether to take the next step, they may want to know just how difficult their particular path to parenthood might be. Others prefer not to know, choosing instead to face any problems together, regardless of what they are.
Dr. Jacques Moritz, an affiliate associate professor OB/GYN at Weill Cornell, told New York Magazine the current standard test looks for 189 different mutations that can cause CF, SMA, or Fragile X Syndrome but these can be very expensive and not often covered by insurance.
The Good Start Genetics Company is selling VeriYou for $194 AUD.
Genetic testing in Australia is highly regulated and only available through health professionals who use a blood test to determine any risk factors ahead of conception. Australians can't even order the VeriYou genetic testing kit via Amazon, with the company unable to ship here due to our current regulations.
Studio 10 host Jessica Rowe talks about falling pregnant after suffering fertility issues. Article continues after this video.
Cystic fibrosis a degenerative condition affecting the lungs and digestive system that needs life-long treatment, daily medication and even eventual lung transplants. Life expectancy for people with CF is approximately 38, according to Cystic Fibrosis Queensland. There is no cure.
More than one million Australians carry the CF gene and as Cystic Fibrosis Queensland explains, both parents need to be carrying the gene for a child they conceive to be at risk of being born with CF. When both parents carry the CF gene their child has a one-in-four chance of having CF. There will be a two-in-four chance that their child won't have CF but will carry the gene and just a one-in-four chance their child won't have Cystic Fibrosis and won't carry the gene.
Spinal Muscular Atrophy (SMA) is a rare inherited genetic muscle wasting disease which causes the loss of nerve cells called motor neurons that affect the muscles which help you move, breath, cough and swallow. Approximately 630 people die of Spinal Muscular Atrophy and related syndromes including motor neuron disease every year in Australia (ABS) 2008 and Spinal Muscular Atrophy Australia reports this disease is the biggest killer of babies under two years of age.
To find a genetic counsellor in Australia contact the Australasian Society of Genetic Counsellors on (02) 9669 6602.
Top Comments
Is this a sponsored post? Why discuss a specific test kit when there are many like this, especially if Australians are unable to order it?
P.s. If you're in Australia and have a family history or are at increased risk of having a baby with a genetic condition for whatever reason, you can see a genetic counsellor in the public healthcare system so that the testing (usually) won't cost you anything and you will be assured accurate testing and advice.
If you don't have a family history but still have questions or concerns, again, go see a genetic counsellor so you get accurate testing and advice.
These companies are usually only testing for specific DNA changes in the genes as opposed to all of them (and may miss something). I note that this particular company doesn't discuss it's coverage of the genes being analysed.
I would not always recommend it unless there's a family history. My GP recommended I get a genetic test done as 'scans are not always reliable'. She explained she had a young girl in her office who had all the scans done and they came back clear, only to give birth to a baby with down syndrome. So my GP then sent me for one. $1800 later, a false positive result (this is apparently common) for 24q, then an invasive CVS procedure which can cause miscarriage, a 10 day long wait (Right before Christmas), endless tears, 'what ifs' and not being able to eat due to stress, only to find out all was fine. Before the procedure we sat down with a genetic counselor who listed how awful 24q was and the massive issues babies have and how they're not expected to live long, yet the whole time the baby was fine. Sometimes the tests can cause more stress and are completely unnecessary especially of there's no family history. The tests are not perfect either...they're just a SCREENING test based on averages in the population; they're not a DIAGNOSTIC test!
I couldn't agree more. There are so many tests these days that involve so much testing and so much stress and the vaaaaaaaaaaaaaaast majority of them end up revealing absolutely nothing and the parents have worried, cried and agonised over results, and for what? Nothing. Let alone if your test comes up with a false positive.