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BabyScreen+ : How Genomic Newborn Screening is Shaping Prevention-Focused Paediatric Care
The BabyScreen+ study shows how genomic newborn screening can extend standard programs to detect actionable conditions that may otherwise be missed. When supported by genetic counselling and scalable digital models, early genomic insight enables timely intervention, personalised care planning, and a shift toward prevention-focused paediatric care.
Sperm Donor with TP53 Mutation Fathers Nearly 200 Children: Implications for Reproductive and Fertility Care
Recent reporting of a sperm donor unknowingly carrying a rare TP53 mutation linked to Li-Fraumeni syndrome highlights the limits of genetic screening in donor conception. While testing reduces risk, it cannot eliminate it entirely- particularly for rare variants. This case reinforces the importance of genetic counselling, proactive risk management, and clear governance, including adherence to Australian donor limits and legislation, to support informed decision-making and protect the long-term wellbeing of donor-conceived families.
How preventative genetic testing revealed a hidden heart risk before symptoms appeared
“Eugene literally saved my life.” Sean felt healthy and symptom-free, but preventative genetic testing revealed a hidden inherited heart risk - allowing him to take early, informed action.
Genetic Carrier Screening Medicare Rebate in Australia - Terms and Conditions
The Australian Government is committed to facilitating access to genetic carrier screening to help identify individuals at increased risk of having a child with an inherited genetic condition. These terms and conditions outline the eligibility criteria, coverage, and payment processes for the Medicare rebate for the Core and Couples (Medicare) Carrier Test, effective from November 1st, 2023. The Carrier Screening Medicare benefit is a once-per-lifetime benefit of $340 to screen for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and fragile X syndrome (FXS). This rebate applies to females only. Male partners can be tested after the female’s results are available. If the female is a carrier for CF or SMA, we can then test the male partner for that specific condition at no additional cost. Eligibility Criteria Valid and current Australian Medicare number Chromosomal female who is pregnant or planning a pregnancy No prior benefit claimed for a carrier screening test from November 1st, 2023 onwards How to check your Medicare claim You can confirm whether you have previously claimed this benefit by checking your MyHealth or MyGov account: Log in to my.gov.au and go to your Medicare section. View your Claims history and look for claims over $300 (from November 2023 onwards). Open the claim details and look for MBS item 73451 as shown below If you haven’t received results from your previous test, we recommend contacting your GP or Specialist to obtain a copy. Please note that the provider name shown on your claim may be that of the laboratory pathologist. Payment, Reimbursement, and Application for Rebate Place your order for the relevant medicare-funded test from our website, referrals are not required to be submitted to access this rebate. Log in to your Eugene account to complete onboarding, provide your Medicare number and assign your rights to Medicare benefits to the lab (so they can bulk bill for you). We may perform a check to ensure the medicare number you provided is eligible. You can update your responses in your account up until your sample is sent to the lab. Medicare will cover two types of tests: Core Carrier Screening - bulk-billed test option doesn’t require upfront payment. If you are later found ineligible, an invoice for the full test cost will be issued, which must be paid before the test can be conducted. If you choose not to proceed with testing after the kit has been shipped, the shipping fees will be non-refundable. Couples Carrier Screening - A rebate of $340 is automatically applied, reducing your out-of-pocket cost to $949 at checkout. This out-of-pocket amount cannot be claimed through any additional benefits. If you are later found ineligible, an upgrade to the couples Comprehensive Carrier Screening test is available as it is not linked to Medicare. If you choose not to proceed with testing after the kit has been shipped, a $100 administration fee will be deducted from your refund. Exclusions Carrier screening is not currently covered by private health insurance. No discounts apply to the medicare-funded tests. These terms and conditions are binding and pertain to the Medicare rebate associated with the Core and Couples Tests for genetic carrier screening. By proceeding with the test, you acknowledge and agree to comply with these terms and conditions. Medicare retains the right to amend these terms at its discretion. For further information or inquiries, please contact the Medicare office or visit their website for updates.
Genetic Testing for Rainbow Families: A Guide to Comprehensive Carrier Screening
Building a family isn’t one-size-fits-all, and for LGBTQIA+ individuals, couples, and those using donors, every path is unique. At Eugene, we’re here to make sure you have the knowledge, confidence, and support to plan for the future you want. Our comprehensive genetic carrier screening is designed with rainbow families in mind, helping you understand potential risks, explore your options, and feel empowered every step of the way. Whether you’re starting solo, with a partner, or with the help of a donor, we provide clear results, expert guidance, and compassionate care so your family gets the best possible start.
10 Myths About Reproductive Carrier Screening - Busted
Think you know reproductive carrier screening? Think again. This essential genetic test can reveal whether you or your partner carry gene variants that could impact your child’s health — yet myths and misinformation often stop people from getting tested. In this article, we bust 10 common myths about reproductive carrier screening, from “No one in my family has a genetic condition – so I’m not at risk” to “I’ve already done NIPT.” Learn the facts, explore your options, and see how accessible, affordable carrier screening can empower your family planning decisions.
Tailoring Carrier Screening for Ashkenazi Jewish Families
Planning a family is an exciting step, especially for people with Ashkenazi Jewish ancestry, who have a higher chance of carrying certain genetic conditions like Tay-Sachs, Familial dysautonomia and Gaucher disease. Reproductive carrier screening helps identify these risks early, some of which might not be covered by standard tests, so you can make informed, proactive choices.
What do my Proactive genetic test results mean for me and my family?
Genetic testing provides valuable insights into your health, helping you understand your risks for certain conditions like cancer and heart disease. But what happens if your results show an increased risk? And what should you do next? Let’s break it down. An increased risk is not a diagnosis If your genetic test results indicate an increased risk for a condition, it doesn’t mean you have the disease- it simply means you may have a higher chance of developing it. Your risk level is determined by looking at your specific genetic variant, your personal and family medical history, and information about the condition itself. With this knowledge, you have an opportunity to take proactive steps. Clinical guidelines can help guide decisions about: Genetic testing provides valuable insights into your health, helping you understand your risks for certain conditions like cancer and heart disease. But what happens if your results show an increased risk? And what should you do next? Let’s break it down. What can I do with my results? Increased screenings – More frequent check-ups can help catch potential health issues early. Lifestyle changes – Adjustments in diet, exercise, or other habits may reduce your risk. Specialist care – We may refer you to a cardiologist, a familial cancer centre, or another expert. Should I share this information with my family? Since genetic conditions can sometimes run in families, your test results have implications for your relatives as well. Sharing this information can help them decide whether they should also consider genetic testing or take preventive steps for their own health. Deciding to share your results is a personal choice, but if you do, resources are available to help. At your results appointment, we can provide tools like family letters to make these conversations easier. Knowledge, power and prevention. While an increased risk may feel overwhelming at first, it’s important to remember that knowledge empowers you to take action. Your results don’t define your future- they give you the opportunity to make informed choices that could positively impact your long-term health. If you have questions or need support in understanding your results, book a free consultation with a Genetic Counsellor today. Together, we can create a plan that’s right for you.
Heart Health Inequality: Putting Women’s Hearts first
At Eugene, we are proud to support women daily as they navigate their reproductive health and their broader preventative health journey. Did you know? 20 Australian women die of heart failure each day, yet women are less likely to receive treatment for chest pain in hospital. [Heart Foundation] Although women and men have similar rates of heart failure, women are more than 35% less likely to participate in cardiac rehabilitation programs. [Wiley Online Library] A 2021 Australian study found that men are twice as likely as women to be diagnosed with hypertrophic cardiomyopathy, potentially because men are more likely to undergo echocardiograms. [ScienceDirect] There is a significant gap in research, randomised clinical trials and clinical treatment for women with cardiac failure, when compared to men (reference). This gap exists because much of the historical research focused on caucasian males, leading to a significant disparity in how we understand and diagnose heart conditions in women. Women are often told to watch for classic heart attack symptoms—like chest pain—when, in reality, their symptoms may present very differently. Here’s what to look out for: Heart attack symptoms in Women: Uncomfortable pressure, squeezing, or fullness in the chest, but not always severe or the most prominent symptom Pain in the back, neck, jaw, or stomach—this pain can be sudden or gradual and may come and go Shortness of breath with or without chest discomfort Nausea or vomiting Extreme fatigue, which can occur days or even weeks before the attack Lightheadedness or dizziness Cold sweats Indigestion or a feeling of heartburn Upper back pressure, which might feel like a squeezing or fullness Why knowing our genetic risk matters: Preventative health starts with your genes. With just a simple at-home saliva test, Eugene’s Preventative Health Test screens 167 genes to help create a personalised prevention and early detection plan for conditions like cancer and heart disease. The test includes: 65 genes associated with increased cancer risk, including breast, bowel, skin, and prostate cancers. 83 genes that increase your risk of common types of heart disease, including high cholesterol, high blood pressure, and conditions that could lead to heart attack and stroke. 19 additional health risk genes, covering conditions such as dystonia and hemochromatosis. Free genetic counselling before and after the test. Personalised action plan to guide proactive healthcare choices with your GP. How knowing your genetic risk empowers you: When you understand your genetic risk, you gain powerful insights into your health that allow you to advocate confidently for yourself with your medical team. Knowing your risk for conditions like heart disease and cancer helps you: Ask the right questions: Bring informed questions to your appointments and engage meaningfully with your healthcare providers. Build the right team: Find specialists who understand your genetic profile and can tailor your care accordingly. Proactively manage your health: Take preventative steps and access early detection strategies that could make a critical difference. Navigate the healthcare system with confidence: You’ll feel empowered to push for tests, screenings, and referrals when needed. Because when it comes to your health, knowledge is power—and you deserve nothing less. References: https://www.heartfoundation.org.au/your-heart/heart-conditions-in-women https://onlinelibrary.wiley.com/doi/full/10.1002/ejhf.3284 https://www.sciencedirect.com/science/article/pii/S1443950623044207
