What do RANZCOG and RACGP guidelines say about carrier screening?
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Part of our guide to genetic testing and counselling in Australia.
Australia’s carrier screening guidelines, from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and the Royal Australian College of General Practitioners (RACGP), agree on the core message: information about carrier screening should be offered to every woman or couple who is thinking about pregnancy or for whom pregnancy is in its early weeks, whatever their family history or ancestry. Both colleges say screening before pregnancy is preferred, that screening is a personal choice made with informed consent, and that couples found to have a high likelihood of an affected child should be referred for genetic counselling.1,2
Key takeaways
- RANZCOG and the RACGP both advise that carrier screening information be offered to all women and couples considering a pregnancy or newly pregnant, whether or not a condition runs in the family.
- Screening before pregnancy is preferred because it keeps the most options open, but screening in the first trimester is still recommended.
- Accepted approaches include a three-condition screen (fragile X syndrome, cystic fibrosis and spinal muscular atrophy) or an expanded screen, with extra testing for some ancestries.
- Informed consent, a non-directive approach and referral of high-chance couples to genetic counselling are central to both guidelines.
What do Australian carrier screening guidelines recommend?
Carrier screening checks whether a person carries a genetic variant that could lead to a serious inherited condition in their children, even though they are usually healthy themselves. The two professional bodies whose carrier screening guidelines shape practice in Australia are RANZCOG, which guides obstetricians, and the RACGP, which guides general practitioners. Their recommendations are closely aligned, and Genotype Health’s carrier screening service, which offers Core Carrier Screen and the more comprehensive Lineova screen, was designed around them.
What does RANZCOG recommend?
RANZCOG’s clinical guidance statement on genetic carrier screening (C-Obs 63) sets out seven consensus recommendations. In summary, every couple planning a pregnancy, or already pregnant, should have a family history taken that includes whether the partners are related. All pregnant women should be offered a full blood examination to check for thalassaemia, with more specific tests considered for higher-chance populations. Every woman preparing for, or early in, a pregnancy should be given information about screening for other genetic conditions, and people of Ashkenazi Jewish descent should be offered additional screening for conditions more common in that community. Women wanting more information should be able to have a detailed discussion with an informed clinician, laboratories should only report variants that are pathogenic or likely pathogenic (see understanding your genetic test report for definitions), and couples found to have a high chance of an affected child should be referred for genetic counselling.1
Genotype Health builds the first of these steps into every order. Each test begins with an in-depth health and family history questionnaire, which asks whether partners are related, so a genetic counsellor can quickly identify anyone who needs a targeted diagnostic test rather than a screen. In July 2024, RANZCOG also issued an interim update for Australia to reflect the Medicare-funded screen for spinal muscular atrophy, cystic fibrosis and fragile X syndrome. It notes that the rebate can be claimed once in a lifetime, supports testing the woman first and her partner only if she carries cystic fibrosis or spinal muscular atrophy, and advises that women with a family history of one of these conditions should be referred to a genetics clinician rather than having the routine screen.1 Genotype Health’s Core Carrier Screen follows this Medicare-funded approach and is bulk-billed for eligible people. Male partners are not checked for fragile X syndrome because it is carried on the X chromosome. See cystic fibrosis, SMA and fragile X: the three Medicare-funded conditions explained.
What does the RACGP recommend?
The RACGP’s Guidelines for preventive activities in general practice (the Red Book) include carrier screening as a practice point. They recommend recording a family history, including consanguinity, for all women and couples before or early in pregnancy, and making carrier screening information available to every woman preparing for pregnancy, irrespective of family history or ethnic background. Screening can use a limited panel of the most common conditions or an expanded panel covering up to hundreds, and couples with a high chance of an affected child should be referred for genetic counselling.2 The RACGP’s genomics resources add that couples can be screened sequentially, with the woman usually tested first, or together, which is usually favoured once a pregnancy is under way and time matters.3 Genotype Health supports both approaches. Lineova Single suits sequential screening, while Lineova Duo screens both partners at once and provides a combined couple report alongside individual results (see couples carrier screening and why individual reports are important).
Why do the guidelines recommend offering screening to everyone?
The shift away from screening only people with a family history or a particular ancestry is the most important change in modern carrier screening guidelines. Earlier approaches missed most carriers, because carriers are usually healthy and the conditions can pass silently through generations.4 In an Australian program that screened for the same three conditions, roughly 90% of the carriers identified had no relative known to have the condition.5 Offering information to everyone gives each person the chance to make an informed choice. To support this, Tara, the AI assistant on Genotype Health’s website, shares general information about carrier screening and each test, so people can make an informed decision in their own time, with a genetic counsellor available for anything more personal.
The benefit of following carrier screening guidelines is time and choice. A couple who learns before pregnancy that they have a high chance of an affected child can weigh up choices including embryo testing through IVF, donor eggs or sperm, prenatal testing, adoption, or continuing with a pregnancy fully informed.3 What is possible varies with local law, and what is right varies with each couple’s beliefs. Where the couple’s exact variants are known, Genotype Health’s Family Variant Testing can provide targeted testing that supports these decisions.
When should carrier screening happen?
Both colleges describe screening before pregnancy as the preferred time, and the RACGP calls preconception screening the gold standard of care.1,4 This allows partner testing, genetic counselling and planning to happen without the time pressure of an ongoing pregnancy. Someone who first presents when already pregnant should still be offered screening, ideally in the first trimester, and screening the couple together can help results arrive sooner.3 Genotype Health’s process is designed to keep things moving. The sample is a simple cheek swab, also known as a buccal swab, collected at home with no visit to a collection centre, and results are delivered securely online, usually within about four weeks. Carrier screening does not replace prenatal ultrasound scanning and screening for chromosomal conditions such as Down syndrome, which should still be offered in pregnancy.3
Which test do the guidelines support?
The guidelines do not mandate a single test. The Medicare-funded three-condition screen (cystic fibrosis, SMA and fragile X syndrome) is the minimum, and expanded screening that looks at many more conditions is also an accepted option.2 RANZCOG notes that expanded screening should be offered within clear pre-test and post-test counselling pathways, because a substantial proportion of adults carry at least one recessive condition and results need careful explanation.1 Ancestry also matters, which is why both colleges recommend additional screening for people of Ashkenazi Jewish descent, and why a family history that includes related partners may point towards broader testing.1,2
Genotype Health’s two tests reflect these options. Core Carrier Screen covers the Medicare-funded minimum. Lineova is a more comprehensive expanded screen of 461 genes, delivered within a genetic counselling pathway, with ancestry panels for Southeast Asian, Middle Eastern and North African, and Ashkenazi Jewish backgrounds that add variants more common in each community. Lineova is analysed overseas and is not Medicare-funded. A genetic counsellor can explain the differences so each person can choose the option that suits them.
“The guidelines are clear that carrier screening is something every person planning a family should hear about, not just those with a family history. Our job is to make sure that choice is well informed, and that anyone found to have a higher chance is supported from the moment they get their result.”
Dr Mona Saleh, Head Genetic Counsellor, Genotype Health
What should happen before and after testing?
Both guidelines emphasise informed, non-directive care. Before testing, a person should understand why screening is offered even without a family history, what the test can and cannot detect, what the chance of an affected child would be if both partners are carriers, and that screening is optional. RANZCOG recommends written informed consent that explains residual risk, because no screen detects every variant in the genes tested, and notes that rescreening may be needed with a new partner.1,3 After testing, people with a low-chance result should be reminded that a small chance remains, and carriers and high-chance couples should be referred for genetic counselling and encouraged to let relatives know, so family members can consider testing too.3
At Genotype Health, genetic counselling before and after testing is part of every carrier screen, and each person receives a plain-language report alongside the laboratory report. When a couple is found to have a high chance, the genetic counsellor talks through their options and helps them share the result with family. Where relatives would benefit from testing, the counsellor can create a personal digital referral link for every relative recommended for testing, so they can have Family Variant Testing for up to ten known variants.
How can GPs and patients access Genotype Health’s carrier screening?
Most people first hear about carrier screening from their GP, and Genotype Health’s referral options fit how GPs already work: the partners’ portal, secure messaging or a paper referral form (see A GP’s guide to referring patients for carrier screening). GPs can track each test and view reports in the portal, while the whole process, from counselling to sample collection and results, is delivered by telehealth, which helps patients in rural and remote areas. People with an existing genetic diagnosis in the family may be eligible for funded diagnostic testing through public services, listed in the directory of genetic services across Australia,6 and Genotype Health also offers private diagnostic testing and genetic counselling for those who prefer it or face long waits.
Considering carrier screening?
Learn about carrier screening with Genotype Health: Core Carrier Screen or Lineova.
Have a family history or questions about which test fits? Talk to a genetic counsellor.
More questions about carrier screening guidelines
Are the RANZCOG and RACGP recommendations compulsory?
No. They are professional guidance. Carrier screening is always optional, and the decision rests with each person or couple after an informed discussion.
Do the guidelines recommend screening men?
Usually the woman is screened first and her partner is tested if she is a carrier of a recessive condition. Couples can also be screened together, which is often preferred in early pregnancy.
Does a full blood examination in pregnancy count as carrier screening?
No. A full blood examination is recommended for all pregnant women to check for thalassaemia in the woman herself. It does not test for other conditions such as cystic fibrosis.
Is there Medicare funding for Ashkenazi Jewish carrier screening?
Yes. Separate Medicare items cover screening for several conditions that are more common in people of Ashkenazi Jewish descent. A doctor can explain eligibility.
Related reading
- A guide to genetic testing and counselling in Australia
- A GP’s guide to referring patients for carrier screening
- Couples carrier screening and why individual reports are important
- Carrier screening explained
References
- Royal Australian and New Zealand College of Obstetricians and Gynaecologists. Genetic carrier screening (C-Obs 63). Version 1.2 [Internet]. Melbourne: RANZCOG; 2019 Mar [updated 2024 Dec; cited 2026 Oct 9]. Available from: https://ranzcog.edu.au/wp-content/uploads/Genetic-Carrier-Screening.pdf
- Royal Australian College of General Practitioners. Guidelines for preventive activities in general practice. 10th ed. Genetic screening [Internet]. Melbourne: RACGP; 2024 [cited 2026 Oct 9]. Available from: https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/preventive-activities-in-general-practice/genetics/genetic-screening
- Royal Australian College of General Practitioners. Genetic carrier screening: a guide to preconception and early pregnancy carrier screening for hereditary rare diseases [Internet]. Melbourne: RACGP; 2022 [cited 2026 Oct 9]. Available from: https://www.racgp.org.au/getmedia/db5d54a8-1e8c-4c3f-9b8b-51fa457c767c/Genetic-carrier-screening_1.pdf.aspx
- Royal Australian College of General Practitioners. Genomics in general practice: carrier screening [Internet]. Melbourne: RACGP; [cited 2026 Oct 9]. Available from: https://www.racgp.org.au/clinical-resources/clinical-guidelines/guidelines-by-topic/view-all-guidelines-by-topic/genomics/carrier-sceening
- Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2018;20(5):513–23. doi:10.1038/gim.2017.134
- Centre for Genetics Education. Genetic services [Internet]. Sydney: NSW Health; [cited 2026 Oct 9]. Available from: https://www.genetics.edu.au/SitePages/Genetic-Services.aspx
