The state of reproductive carrier screening in Australia

newsGP writers

5/10/2022 6:10:16 PM

SPONSORED: The third in a series of free webinars focused on non-invasive prenatal screening is due to take place next week.

GP talking to pregnant patient.
GPs are often the first touchpoint for newly pregnant patients.

GPs are often the first touchpoint for newly pregnant patients, offering comprehensive antenatal care for prospective parents and their developing children.
Non-invasive prenatal screening (NIPS) is becoming an increasingly common part of this care, with many professional societies now recommending that all pregnant patients, regardless of age, be offered screening and diagnostic testing for aneuploidy during pregnancy.
To help GPs learn more about this rapidly evolving area of medicine, the RACGP has partnered with Illumina to produce a three-part series of webinars aimed at integrating genomics into general practice.
GP and series facilitator Dr Nicole Hall recommends NIPS to all of her pregnant patients – the majority of whom take up the offer – and told newsGP the screening can detect a variety of chromosomal conditions while also providing peace of mind.
‘In the past year alone, I have had a couple where NIPS detected Kleinfelter Syndrome, and another where NIPS detected trisomy 18,’ she said.
‘In addition, the majority of couples who undertake this screening, especially in conjunction with the recommended early anatomy scan, are comforted by the knowledge that it is less likely they will have a child born with the conditions screened for.’
Dr Hall hopes attendees will gain knowledge about NIPS and its true value, including cost, limitations, sensitivity rates, and also further information about ‘the complex world’ of additional testing options that are now available.
‘This is a wonderful test but the options available can be complicated,’ she said.
‘It would be great for all GPs to have the confidence to explain to patients how NIPS might work for them.’
While session one and two have already taken place (but are still available to view online), the third instalment is scheduled for 7 pm (AEDT) on Wednesday 11 October.
It will be presented by clinical geneticist and genetic pathologist Conjoint Professor Edwin Kirk, and focus on the current and future state of reproductive carrier screening in Australia, as well as pre- and post-test counselling considerations.
Professor Kirk’s research interests include gene discovery in Mendelian disorders and the genetics of congenital heart disease. In recent years, reproductive genetic carrier screening has been a major research focus, and he is co-lead of the $20 million MRFF-funded Mackenzie’s Mission project, which completed recruitment earlier this year.
Those interested in attending can register on the RACGP website.
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Illumina NIPS non-invasive prenatal screening reproductive carrier screening webinar

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