For clinicians · Reproductive carrier screening

Your patients deserve to make that choice.

Offering carrier screening fulfils your clinical obligation under RANZCOG and RACGP guidelines. Referring to Eugene means your patients get end-to-end support: pre-test education, accredited lab analysis, genetic counsellor results disclosure, and a clear action plan, whatever the result.

“Information on carrier screening should be offered to all women planning a pregnancy or in the first trimester of pregnancy, irrespective of ethnicity or family history.”¹

RANZCOG & RACGP joint guidance on preconception care. ranzcog.edu.au

90%

of at-risk couples have no family history²

1 in 40

couples return an increased-risk result³

787

genes on the Comprehensive test

~4 wks

turnaround (Core & Comprehensive)

NATA accredited

CLIA certified

CAP accredited

SOC 2 Type I & II

You make the offer. We handle the rest.

End-to-end clinical support

From pre-test counselling through to results disclosure, your patients are supported by certified genetic counsellors at every step. You refer; we handle the rest.

Clear action plans, whatever the result

Every patient comes back with a clear result and a mapped next step, whether that's reassurance, PGT-M referral, or a conversation about reproductive options.

Your role is the offer, not the explanation

RANZCOG and RACGP guidelines place the obligation to offer carrier screening with the clinician. Referring to Eugene fulfils that obligation. Your patients learn more and decide what aligns with their values and goals.

When to recommend

Three moments to raise carrier screening.

Pre-conception planning, with or without family history

RANZCOG recommends offering this to all patients planning pregnancy regardless of ethnicity or family history. 90% of at-risk couples have no prior awareness of their carrier status.²

Best fit: Comprehensive or Core

IVF couple, cycle underway or imminent

Raise it as part of the initial conversation. If an elevated risk is found, PGT-M takes time to arrange. The Couples or Comprehensive expanded panels support concurrent screening.⁵

Best fit: Couples, concurrent testing

Known family history, specific ethnicity, or donor conception

Comprehensive screening gives individual carrier status across 787 genes, supporting cascade testing and cross-panel donor-matching. Ensure family history is provided at referral.

Best fit: Comprehensive, individual

The three tests

Choose the right test for the patient.

Every Eugene reproductive test includes the saliva kit, prepaid shipping, accredited lab analysis, a clinical summary, and a one-on-one genetic counsellor consult.

Medicare-funded

Core Carrier Screening

3 genes: CFTR, SMN and FMR1 (CF, SMA, Fragile X)
Female screened first; male tested only if she is a CF or SMA carrier
Detects ~20% of at-risk couples (1 in 240)⁶
Best for a funded baseline, after an informed-consent discussion

$0 · Medicare items 73451 & 73452

Most comprehensive

Comprehensive Carrier Screening

Up to 787 genes, individual reporting across the whole panel (males not screened for X-linked conditions)
Identifies increased reproductive risk in approximately 1 in 40 couples screened³
Detects 90% of couples at increased risk
Includes severe childhood-onset conditions and variable conditions affecting development or linked to progressive disease
For individuals, couples, LGBTQ+ and solo parents

$949 individual / $1,499 couple

Medicare rebates available

Couples Carrier Screening

620+ genes, concurrent couple reporting
Identifies increased reproductive risk in approximately 1 in 50 couples³
Detects 80% of couples at increased risk
Focuses on severe childhood-onset conditions
Variable or mild conditions not included (e.g. non-syndromic hearing loss)
Male–female reproductive couples only. Not for individuals, same-sex couples or donor conception

$949 out-of-pocket · Medicare eligibility applies

The Medicare rebate (items 73451 and 73452, rebate up to $400) can only be claimed once per lifetime if the test includes CF, SMA and FXS. Medicare eligibility requires testing of a female patient planning a pregnancy or pregnant. Partner testing is funded if the female is found to be a carrier of CF or SMA.

What every patient gets back

A clear result, and a mapped next step.

Whatever the result, your patient hears it from a genetic counsellor who explains what it means and what follows.

~97%

No shared risk identified. Most couples receive a reassuring result. All lab results come with a clinical report explaining the benefits and limitations of testing, including residual risk.

2 to 5

Conditions carried on average.⁴ Most healthy individuals carry two to five recessive conditions. Being a carrier does not typically impact their own health.

2 to 3%

Elevated reproductive risk.³ Both partners carry a variant in the same gene. The counsellor explains the result and all reproductive options without pressure.

25%

Risk per pregnancy. For autosomal recessive and X-linked conditions, a 1-in-4 chance per pregnancy. Full counselling and a PGT-M / prenatal options pathway provided.

Which test for which patient

Match the patient to the pathway.

The Couples test is for male–female couples only. Always route LGBTQ+ and donor-gamete patients to Comprehensive individual. Discuss appropriateness of referral with Eugene's genetic counsellors.

Pre-conception couple, no family history

Refer to Comprehensive.

Male–female IVF couple, reproductive-risk focus

Refer to Couples (concurrent).

Patient prioritising cost, funded baseline

Refer to Core.

Patient using donor gametes

Refer to Comprehensive (individual).

Known family variant or specific ethnicity

Refer to Comprehensive (individual).

LGBTQ+ patients and solo parents

Refer to Comprehensive (individual). The Couples test is not appropriate.

Clinical credibility

Built to be clinically defensible.

Only pathogenic and likely-pathogenic variants reported

No variants of uncertain significance. No ambiguous findings for you or your patient to navigate.

Curated against international guidelines

RANZCOG, RACGP, RCOG, ACMG and ClinGen. Panels updated as evidence and guidelines evolve.

Reviewed by certified genetic counsellors

Every result is reviewed before release. Counsellors explain results one-on-one with patients and are available for clinician case discussion.

Processed in accredited laboratories

Processed in NATA-accredited Australian laboratories and CLIA/CAP-certified partner facilities.

Refer the patient

2-minute referral. Select the test, flag IVF timing or any clinical notes.

At-home saliva sample

Kit dispatched same day. Pre-test genetic counselling offered before collection.

Accredited lab analysis

CLIA, CAP and NATA labs. The Couples test runs both samples concurrently.

Results, counselling and plan

Clinical report to you. A genetic counsellor explains results to the patient and maps the next steps, whatever the result.

Introducing carrier screening at a pre-conception appointment

“As part of pre-conception planning, I'd like to mention a type of genetic test called carrier screening. It's a saliva test that looks at whether you and your partner carry gene variants that, together, could increase the chance of having a child with a serious inherited condition.

Being a carrier is common, most of us carry at least one variant, and it doesn't affect your own health at all. The risk only applies if both partners carry a variant in the same gene. Testing simply gives you that information before pregnancy so you have time to consider your options.

I can refer you through Eugene, who coordinates the whole process including a genetic counsellor who can answer any questions.”

Explaining the difference between Core, Comprehensive and Couples

“Reproductive carrier screening is a way to identify if you carry genetic changes that could increase the risk of having a child with a serious genetic condition. There are small or expanded panels, and each provides a different level of coverage.

The Medicare-covered test looks at three conditions: cystic fibrosis, spinal muscular atrophy and fragile X. It's rebatable, so there's little or no out-of-pocket cost, but it only looks for common changes and will at best pick up 20% of at-risk couples.

The Comprehensive panel covers 787 genes and gives individual carrier status, which matters if you're using a donor or want cascade testing in the family. This test is broad and includes severe childhood-onset diseases and more variable conditions. What you choose to do with the information remains your choice.

The Couples test covers 620-plus genes associated with severe childhood-onset conditions and reports the two of you together, but it's only suitable for male-female couples and doesn't give individual results beyond those first three conditions.

Expanded panels like the Couples or Comprehensive tests will detect between 80 and 90% of at-risk couples, providing you with more actionable information to make informed pregnancy choices.

The genetic counsellor will walk you through what makes sense for your situation.”

Disclosing a single-carrier result

“Your results show you carry a variant in one of the genes we tested. Being a carrier doesn't affect your health, and it's extremely common, most people don't know they're a carrier before having this test.

The reproductive risk only applies if your partner also carries a variant in the same gene. That's why we recommend your partner test too. If they don't carry the same variant, your reproductive risk remains low and no further action is required. However it's important to know that no test result can ever remove all risk.

The genetic counsellors from Eugene are available to talk through what this means and arrange additional testing if it is recommended.”

Disclosing an elevated reproductive-risk result (both partners positive)

“The results show that you and your partner both carry a variant in the same gene. This means there's an approximately 1-in-4 chance with each pregnancy that a child could be affected by this condition.

I know this is a lot to take in. It doesn't mean a pregnancy will be affected, with each pregnancy there's a 75% chance the child won't be. But it does give you information to make decisions with.

There are several options, including natural conception with prenatal testing, preimplantation genetic testing through IVF, or using donor conception. A genetic counsellor is available to discuss all of these with you at no extra cost, and there's no pressure to make any decision right away.”

When a patient says “I don't want to know”

“That's a really understandable response, and it's entirely your choice whether or not to test. Carrier screening is optional.

It might help to know that most people, around 97 to 98% of couples, get a reassuring result showing no shared reproductive risk. And for those who do get an elevated-risk result, many find it useful to have that information before pregnancy rather than during.

If you'd like, I can give you the information sheet to read in your own time, and you can let me know if you'd like a referral.”

Framing carrier screening for LGBTQ+ patients and those using donor conception

“Carrier screening is relevant for you regardless of how you're conceiving. If you're using a known donor, both you and your donor can test to check for any shared risk. If you're using an anonymous donor, the sperm or egg bank may have carrier screening information on file, and we can advise on how to factor that in.

Eugene's process is designed to work for all family types, with inclusive language and genetic counsellors experienced working with LGBTQ+ patients and solo parents. For this reason we use the Comprehensive individual test rather than the Couples test.”

See exactly what your patients receive.

A real Eugene reproductive report, low-risk and increased-risk. Enter your details and tell us which you'd like to see.

First name

Clinic name

Your role

Which sample report would you like?

Reproductive carrier screening
Preventative health
Both

I'm not a geneticist. What if a patient asks me a hard question?

You don't have to be. Eugene's genetic counsellor explains every result to the patient one-on-one, and you can call our clinical team for case discussion at any time.

When should I use the Couples test versus the Comprehensive test?

Use Couples for male-female reproductive couples focused on reproductive risk, where donor-matching and cascade testing won't be needed. Use Comprehensive for everyone else: individuals, donor conception, same-sex couples, solo parents, and anyone who may need individual carrier status or cascade testing. Comprehensive is the most flexible and comprehensive default when in doubt.

I'm too busy to add a new workflow.

The referral takes about two minutes. Eugene handles the kit, patient onboarding, lab work, counselling and reporting. The only touchpoint after the referral is the clinical summary that lands in your inbox.

What support does a patient get if an elevated risk is found?

Every increased-risk result triggers a one-on-one genetic counsellor consult at no extra cost, plus a clinical summary for your records. The counsellor presents all reproductive options without pressure and maps the PGT-M or prenatal pathway.

Can the Core test detect most at-risk couples?

No. The Core (3-gene) panel identifies approximately 20% of at-risk couples, around 1 in 240.⁶ It's a Medicare-funded baseline. For most patients the Comprehensive panel is the more complete picture. Document informed consent where a patient declines expanded testing.

Does the patient need to see a geneticist first?

No. Carrier screening is offered in primary care and reproductive settings without a prior genetics appointment. Eugene's counsellors handle pre-test and post-test conversations, and coordinate with clinical genetics for complex cases or PGT-M planning.

References

RANZCOG. Preconception Care Statement C-Obs 63. 2019. ranzcog.edu.au
Archibald AD, et al. Reproductive genetic carrier screening for CF, FXS, and SMA in Australia. Genet Med. 2018;20(5):513–523.
Carrier Comparison Table. Eugene Labs internal data, 2024. eugene.to/learn
Kingsmore SF. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 2012. doi:10.1371/currents.RRN1290
RANZCOG. Carrier screening in the context of IVF. RANZCOG Clinical Guidelines, 2022.
Milgrom Z. Carrier Screening in the General Population: Empowering Informed Choices Through Genetic Counselling. Presented at FSANZ, 2025.
Schofield D, et al. Cost-effectiveness of expanded reproductive carrier screening. Eur J Hum Genet. 2025.
NSW Health, Centre for Genetics Education. Reproductive Carrier Screening Fact Sheet. Updated August 2025. genetics.edu.au