A real Eugene reproductive report, low-risk and increased-risk. Enter your details and tell us which you'd like to see.
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 counselling, accredited lab analysis, genetic counsellor results disclosure, and a clear action plan, whatever the result.
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.
Three moments to raise carrier screening.
Pre-conception planning, with or without family history
90% of children born with an inherited genetic condition have no family history.² Carrier status is invisible without testing, and most healthy individuals carry two to five recessive conditions.⁴
Tag: Comprehensive or Core
In consult: “As part of pre-conception planning, I'd like to mention carrier screening. It's a saliva test that checks 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 two to five conditions and don't know, and it doesn't affect your own health. It gives you information before pregnancy so you have options. I'll refer you through Eugene, who coordinates the whole process and provides a genetic counsellor to answer your questions.”
IVF couple, cycle underway or imminent
Carrier screening before IVF opens the door to PGT-M if a shared risk is identified. The Couples test runs both samples concurrently, so raise it early: turnaround is 6 to 8 weeks.⁵
Tag: Couples, concurrent testing
In consult: “Before we go further with the IVF cycle, I'd like us to do carrier screening for both of you. If we find a shared risk, we have the option of preimplantation genetic testing, which means we'd only transfer embryos unaffected by the condition. The Couples test runs both samples at the same time, which is the most efficient pathway.”
Known family history, specific ethnicity, or donor conception
A family member with a diagnosed recessive condition, Ashkenazi Jewish or Mediterranean background, or patients using donor gametes. Individual Comprehensive testing supports donor-matching and cascade testing.
Tag: Comprehensive, individual
In consult: “Given your background, there are some conditions worth specifically checking for. The Comprehensive test gives individual carrier status across 787 genes, which also means we can cross-reference against a donor's screening results, particularly useful if you're using donor gametes.”
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
- 787 genes, individual carrier reporting for every condition
- For individuals, couples, donor gametes and all family types
- Detects 1 in 50 at-risk couples (~2%)³
- The only test appropriate for donor-matching, cascade testing, LGBTQ+ patients and solo parents
$949 individual / $1,499 couple
Highest pick-up
Couples Carrier Screening
- 620+ genes, concurrent couple reporting
- Male–female reproductive couples only. Not for individuals, same-sex couples or donor conception
- Detects 1 in 40 at-risk couples (2 to 3%), the highest of the three³
- Individual results for CF, SMA and FXS (female partner only); no individual reporting for other conditions
$949 out-of-pocket
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.
Compare the three tests
Genes, turnaround, pick-up rate and cost, side by side.
| Feature | |||
|---|---|---|---|
| What's included | |||
| Total genes screened | 3 genes screened | 620+ genes screened | 780+ genes screened |
| What genes are screened? |
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| Who is this for? |
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| What's in my report? |
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| Reproductive risk |  | | |
| Eugene Sequence |  | | Unlock more later |
| Medicare rebate | $0 out of pocket | $949 out of pocket | |
| Genetic counselling support | | | |
| Return shipping | Shipping fees apply | Free | Free |
| Results turnaround time | Within 4 weeks | Within 6-8 weeks | Within 4 weeks |
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. The genetic counsellor explains the limitations, including residual risk.
2 to 5
Conditions carried on average.⁴ Most healthy individuals carry two to five recessive conditions. Being a carrier has no impact on 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 conditions, a 1-in-4 chance per pregnancy. Full counselling and a PGT-M / prenatal options pathway.
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.
LGBTQ+ patients and solo parents
Refer to Comprehensive (individual). The Couples test is not appropriate.
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
All samples processed in CLIA, CAP and NATA-accredited Australian partner laboratories.
Four steps from referral to plan.
You refer. Eugene handles everything between the order and the report.
1
Refer the patient
2-minute referral. Select the test, flag IVF timing or any clinical notes.
2
At-home saliva sample
Kit dispatched same day. Pre-test genetic counselling offered before collection.
3
Accredited lab analysis
CLIA, CAP and NATA labs. The Couples test runs both samples concurrently.
4
Results, counselling and plan
Clinical report to you. A genetic counsellor explains results to the patient and maps the next steps, whatever the result.
Communication support
Introducing carrier screening at a pre-conception appointment
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
Explaining the difference between Core, Comprehensive and Couples
“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 identifies about 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. The Couples test covers 620-plus genes and reports the two of you together, with the highest pick-up rate, but it's for male-female couples only and doesn't give individual results beyond those first three conditions.
The genetic counsellor will walk you through what makes sense for your situation.”
Disclosing a single-carrier result
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 at all, and it's extremely common, most people don't know they're a carrier.
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 from this condition is not elevated.
The genetic counsellor from Eugene will contact you to talk through what this means and arrange partner testing if you'd like to go ahead.”
Disclosing an elevated reproductive-risk result (both partners positive)
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”
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
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.
Clinician FAQ
I'm not a geneticist. What if a patient asks me a hard question?
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?
When should I use the Couples test versus the Comprehensive test?
Use Couples for male-female reproductive couples focused on reproductive risk and speed, 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 safe default when in doubt.
I'm too busy to add a new workflow.
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?
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?
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?
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.
Refer a patient in two minutes.
We handle everything from kit to results, with genetic counsellor support included.
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
