Is general practice ready for the genetic carrier screening surge?

Michelle Wisbey

9/04/2024 4:31:04 PM

GPs must be educated and resourced to meet the ‘inevitable widespread uptake’ of the newly Medicare-funded service, says a new study.

Doctor speaking to couple.
An MBS change making reproductive genetic carrier screening free is expected to benefit around 85,000 people each year.

Governments, leaders, and policymakers should prioritise upskilling GPs to meet rapidly growing patient demand for reproductive genetic carrier screening (RGCS).
That is according to a new Australian study, questioning whether the health system and its staff are equipped to meet the complex needs of patients interested in genomic medicine.
The plea comes after Medicare Benefits Schedule (MBS) changes last year allowed individuals who are pregnant or planning pregnancy, along with their reproductive partners, to freely access reproductive carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome.
The MBS change was expected to benefit around 85,000 people each year, with the screening available irrelevant of symptoms or family history.
However, the study, published in the Medical Journal of Australia on Tuesday, says the workforce implications of the implementation of this RGCS are considerable.
‘The MBS item supporting the three-gene form of RGCS is a ground-breaking moment in reproductive genetics that, for the first time in Australian history, offers funded large scale genetic screening to the general population,’ researchers said.
‘Ongoing education of primary care health practitioners is essential at minimum to manage these demands, as most pre- and post-test counselling will be delivered by general practitioners.’
Dr Ka-Kiu Cheung, Chair of RACGP Specific Interests Antenatal and Postnatal Care, said GPs must be given the resources to have these complex conversations with patients, which often take much longer than a standard consult.
‘GPs are used to managing and staying abreast of a wide range of topics – we do preconception care, end-of-life care, and things are changing all the time, so we always adapt, we always bring that knowledge on board, and it becomes a routine part of what we offer,’ she told newsGP.
‘With time this will become something that’s part of that toolkit that GPs have access to, so I don’t have any concerns that GPs won’t manage that knowledge, it’s more about capacity.
‘When governments implement something new like this, sometimes it’s not until we start that we see the practicalities or the major barriers, so we now have other bodies acknowledging that the bulk of this work is going to be done in primary care by GPs.’
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends the screening be offered to all women who are pregnant or planning pregnancy.
Around 5% of Australians are genetic carriers of at least one of the three conditions in the screening, with one in 240 couples both carriers.
The study said the management of these increased chance couples is likely to be undertaken by ‘already stretched hospital-based clinical genetics services’, with flow-on effects to other specialties.
‘It highlights the need for government bodies and policymakers to prioritise the upskilling and education of non-genetics professionals,’ the commentary said.
‘Community-based genetic counsellors would be ideally placed to support other health professionals in navigating RGCS, but there is currently no funding model to support this.’
The study also shined a light on the importance of pre-test counselling and its ‘implicit complexities’.
It states that this can be adequately provided by GPs, but it is a potentially time consuming and resource intense process that must be done appropriately.
RACGP Expert Committee – Quality Care member Associate Professor Magdalena Simonis told newsGP that greater resourcing for preconception care is needed to ensure GPs have the time to explain pregnancy to their patients.
‘It really is a space and an opportunity for us to have these conversations in preparation of a pregnancy because once an individual is pregnant, then you’ve also missed the opportunity for that pre-pregnancy genetic counselling which can inform decisions regarding their choices down the track,’ she said.
‘Then they can go in knowing that they’ve got these particular risks, but they’re measured risks, and some are prepared to continue with the pregnancy regardless.
‘There are hundreds of congenital abnormalities and explaining what each of those mean to a person requires quite a bit of genetic knowledge, and we need to appropriately support GPs when they do this because it takes a lot of time.’
Dr Cheung said the increase in screening brought with it a new need for the creation of a national digital pregnancy record.
‘This would really go towards helping families and offspring in the future keep track of these really important conditions as they come through,’ she said.
More details and resources for reproductive carrier screening are available on the RACGP website.
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Dr Michael Charles Rice   11/04/2024 3:24:31 PM

A good opportunity to consider allowing patient to claim item 36 or 44 for these complex discussions.