The genetic test to have before you get pregnant or start taking new medicine.

WANT to prevent your child having a genetic defect or be sure your medicine is working? There is a new test for that.

Lab technician with a vial

A NEW home based saliva test will let couples know their risk of passing on 145 genetic faults to their children.

Another new test will allow Australians to find out whether their genes reduce the effectiveness of common medicines like anti-cholesterol drugs, antidepressants and pain killers.

The tests developed by Australian company Life Letters are set to revolutionise the way couples plan a pregnancy and empower patients who don’t think their medical treatment is working.

And in time, if enough couples take up the testing, the tests could eliminate or minimise genetic abnormalities in the population says St James Ethics Centre director Dr Simon Longstaff.

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The tests can be purchased online, don’t need a doctors referral and come with genetic or other counselling to make sure people understand the information and make educated decisions.

Westmead obstetrician Dr Andrew Pesce says he currently refers less than one per cent of his patients for preconception testing and usually only if they have a family history of disease or disability.

“If there is no family history of any problem, it makes it unlikely there will be a mutation and if there is one present it’s likely to be spontaneous rather than inherited,” he said.

Current preconception testing under Medicare requires a doctors referral for a blood test and screens for around 1-12 genetic mutations.

A post conception blood test for Down syndrome and other abnormalities costs $590, also requires a doctors referral and there is no Medicare rebate for that, Dr Pesce says.

The new Life Letters saliva based preconception test costs $900, requires no doctors referral, it takes four weeks to get the results which come either through your GP or a genetic counsellor, and it does not attract a Medicare rebate.

And if one member of a couple tests positive for a genetic mutation, the other will also have to be tested for an additional fee of $900.

The actual genetic testing is carried out in two laboratories — Emory Genetics in the United States and Healthscope in Australia.

Life Letters Chief Executive Warren Lee says the new test will bring the benefits of advances in genetics direct to consumers in a way that will help them make important life decisions.

“It is information you would want to know, it is not bad news if you know it but it could be bad news if you don’t,” he said.

He says even though he has had his children he did the test and found he was a carrier of the cystic fibrosis gene.

His daughter does not have the disease which leaves sufferers with a life expectancy or around 40 years of age, he said.

“There was no history in my family, none. Instead of having a 1 in 200 chance of having a child with cystic fibrosis we had a 1 in 100 chance,” he said.

The pre-pregnancy screening checks for 145 diseases such as cystic fibrosis, Tay-Sachs, haemophilia, spinal muscular atrophy, fragile X syndrome.

Alana Smith, 35 and Dominique Pierre-Nina, 43, are planning to get married in April and feel time is of the essence in conceiving a child.

“I’ve got no family history but I’ve seen lots of friends go through health issues with their children,” says Ms Smith.

“My mum had trouble conceiving and we want to take every precaution we can to have a healthy child,” she said.

Both Alana and her partner took the new saliva test this week.

Ms Smith said if the test found a genetic problem it wouldn’t stop the marriage but it might affect how they decided to conceive, and they’d consider IVF.

“It would depend on the particular disease. We read through the list and there are some horrible things where children are in horrible pain and die, if they have cystic fibrosis they have a chance of only living to their 40s,” she said.

“We could opt for IVF and eliminate and possibility the foetus would have that condition,” she said.

Tests for more ... You can now test to see if your genes prevent your medicine working effectively. Picture: Supplied.

The second test for the effectiveness of medicines costs $175.

Mr Lee says medical research shows many common medications are ineffective for around 20 per cent of the population.

One in five people receive no benefit from heart or stroke medication clopidogrel, around one in ten people can’t metabolise tricyclic antidepressants like Amitriptyline.

One in six people are at increased risk of muscle toxicity from anti cholesterol drug simvastatin.

This genetic information will empower these patients to go to their doctor and ask for a different type of medicine for their condition that uses a different metabolic pathway or a higher or lower dose.

Patients who have this test will be sent information from Life Letters based on independent medical guidelines written by a team of experts about how to manage the conflict between their medicine and their genes.

Dr Pesce said parents who undertake the preconception testing would have three options if an abnormality was found.

They could undergo IVF treatment to conceive a child and test the embryos to eliminate those carrying the condition.

They could use someone else’s sperm to conceive a child.

They could get pregnant knowing there was a one in four chance they would have a baby with a genetic condition, undergo antenatal testing and decide whether to terminate the pregnancy if the child was abnormal.

Dr Longstaff, who serves on Life Letters advisory board says the new genetic tests were “transformative in terms of medicine”.

One wrinkle was that the test results gave you information not only about yourself but about genes your siblings could be carrying.

He said health insurance companies could not ask for the information from the tests in Australia.

However, those who did the tests may have to declare the results to life and income insurers if they wished to dodge having their policy voided.

“There is little this test shows about the parent, the mere fact you are a carrier has no implication apart for on your children,” he said.

One potential development from this type of testing could be the eventual reduction or elimination of certain genetic conditions, he said.

“The eradication of certain diseases is possible if parents in sufficient numbers decide not to have a child with the condition,” he said.

However these medical developments meant it was really important we had a community conversation about the implications of this type of testing to avoid the emergence of any kind of genetic determinism, he said.

Nobel prize winning physicist and astronomer Professor Brian Schmidt said he was involved in the project because “one of the important things in science is using science”.

The genetic tests were a way ordinary people could use science to help inform decisions about their health or their children, he said.