GPs urged to inform women about pre-pregnancy genetic testing – The Age

This is concerning, the study's lead researcher Dr Ruth Leibowitz said, because GPs are the first point of call for most pregnant women and those seeking preconception medical care.

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"One theory is that GPs simply dont really know about the tests and the majority of these tests are being driven by patients requesting it," Dr Leibowitz said during a presentation of her findings at the GP19 conference in Adelaide last Friday.

When prenatal testing shows a fetus is at risk, families are faced with a profound and difficult decision on whether to keep the baby or terminate the pregnancy.

Many couples who are found to be carriers of the mutations prior to pregnancy can use IVF in conjunction with genetic testing of embryos to avoid having a child with a genetic condition.

Of the 21,172 women screened, one in 20 were carriers for at least one of the severe genetic disorders.

About 70 per cent were in the highest socio-economic quartile as measured by residential postcode. About 53 per cent were pregnant at the time of screening.

Earlier this year, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists set new guidelines, recommending that all women planning a pregnancy or in their first trimester should be given information about preconception carrier screening.

But Professor Martin Delatycki, clinical director of the Victorian Clinical Genetics Services and member of the Genomics Advisory Working Group, estimates less than 10 per cent of aspiring parents are offered such screening.

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"What the results show us is that GPs are in an ideal position to offer it because they see women before they are pregnant," Professor Delatycki said.

"When women are not pregnant and they have screening, they have much more time to make a decision if theyre at high risk of having a child with one of the genetic conditions.

"It is very critical its a choice for people, not just a routine test," he said. "Because its not right for everybody.

Royal Australian College of General Practitioners president Harry Nespolon argued the onus should be on obstetricians with the expertise to discuss genetic testing with would-be parents, with many GPs choosing to refer women on to genetic counsellors.

For some patients, testing for the rare conditions went against their belief system, Dr Nespolon said.

"This is not a decision to be taken lightly because there is a lot to consider about requesting genetic screening, ultimately it can affect patients pyschologically and financially. It can affect people quite deeply and the choices they make."

Carrier screening to determine if couples carry the mutations for SMA, cystic fibrosis and fragile X is not routinely offered and many doctors do not know the tests exist.

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Professor Delatycki said recent research pointed to women having a higher chance of having a baby with one of the three genetic conditions, than there is of having a baby with Down Syndrome.

The tests can cost up to $1800 for couples and are not covered by Medicare, prompting concerns that only wealthy aspiring parents can take this precaution in a bid to avoid having a baby with a severe genetic condition.

Fragile X syndrome causes intellectual disability and behavioural and learning challenges, and is also the most common single-gene cause of autism worldwide. Spinal muscular atrophy is a severe muscle-wasting disease, while cystic fibrosis damages the lungs and digestive system.

The landmark Mackenzie's Mission trial has begun recruiting 10,000 Australian couples to be screened for 500 severe and deadly genetic conditions.

The results of the trial are expected to inform whether the federal government will introduce Medicare subsidies for carrier screening.

Melissa Cunningham is The Age's health reporter.

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GPs urged to inform women about pre-pregnancy genetic testing - The Age