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What do my genetic 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
How knowing of a Genetic Cancer Risk is empowering Women.
This International Women’s Day, we celebrate not only women's achievements but also the power of knowledge in health. At Eugene, we’re dedicated to helping women navigate their reproductive and preventative health journeys with confidence and peace of mind. A study from UNSW Sydney highlights an important finding: women who know their genetic risk for breast cancer do not experience increased stress from this knowledge. The study, “Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior” by Yanes et al., published in Genetics in Medicine (2021), found that women who received their polygenic risk score (PRS) reported minimal distress and appropriate engagement with recommended breast cancer screening and prevention strategies based on national guidelines. Why knowing your genetic risk matters: Preventative health starts with your genes. With just a simple at-home saliva test, Eugene’s Preventative Health Test provides personalised insights into your genetic risk for serious health conditions like cancer and heart disease. Our comprehensive test covers: 65 cancer-risk genes, including those linked to breast, bowel, skin, and prostate cancers. 83 heart disease genes, related to common cardiovascular risks such as high cholesterol, high blood pressure, and conditions that could lead to heart attack and stroke. 19 additional health-risk genes, which assess risks for conditions such as dystonia and hemochromatosis. To support you every step of the way, our test includes: Free genetic counselling, before and after testing, to help you understand your results. A personalised action plan that empowers you to make informed healthcare decisions alongside your GP. Empowering Women to Advocate for Their Health: When women understand their genetic risk, they are equipped to: Ask the right questions during medical appointments Build the right healthcare team that understands their unique needs Take proactive steps towards prevention and early detection Navigate the healthcare system with confidence, ensuring they receive the best possible care This International Women’s Day, let’s champion the women in our lives to embrace knowledge, take control of their health, and reduce the stress of the unknown. Because every woman deserves to feel empowered, informed, and supported on her health journey.
A Landmark Win: Australian Government Banning Genetic Discrimination in Life Insurance
Today, the Australian government made a landmark decision to ban life insurers from using genetic test results to deny or increase coverage premiums. This pivotal change paves the way for a more equitable healthcare system, enabling individuals to access genetic testing without fear of financial repercussions. As a leading provider of at-home genetic testing and personalised genetic counselling, Eugene fully supports this decision, which aligns with its mission of empowering people to make informed health decisions confidently. Kunal Kalro, CEO and Co-founder of Eugene, shares his thoughts on the decision: “Today’s announcement is a major step forward in creating a healthcare environment where individuals can access genetic testing without concern. We see this as an opportunity for all stakeholders—including patients, healthcare providers, and insurers—to work together to foster trust and encourage proactive, preventive care. This decision empowers more people to take control of their health confidently.” For years, concerns about discrimination when applying for life insurance have prevented many from seeking genetic testing, which has the power to change lives by providing critical health information. With this ruling, people can now explore their genetic health without worrying about life insurance implications. This decision reinforces that our genetic information should not be used against us—it should be a tool for empowerment, giving us the power to plan, act, and protect our futures. Zoë Milgrom, Chief Clinical Officer and Co-founder of Eugene, reflects on the change: “For many, genetic testing is life-changing. This ruling removes a key barrier, allowing people to explore their genetic health without fear of financial repercussions. At Eugene, we’ve always focused on patient empowerment—providing personalized care and guiding patients toward proactive health decisions. This decision gives people the confidence to access the insights they need to make informed choices without worrying about insurance implications.” The government’s support for this ban also acknowledges that removing this barrier will not only encourage more people to participate in genetic testing but also promote vital genetic research. Studies, such as the A-GLIMMER study from Monash University, have demonstrated that removing the fear of being denied cover or higher costs of cover will likely contribute to significant healthcare savings by encouraging preventative care and early interventions. Eugene has been at the forefront of providing accessible, high-quality genetic testing paired with personalized counselling, ensuring patients understand and can confidently act on their results. With over 20,000 individuals screened, Eugene is leading the way in integrating genetics into everyday healthcare, empowering patients and providers alike. This ruling will reinforce the role of genetic testing as a cornerstone of preventive healthcare, encouraging collaboration between patients, providers, and insurers to create a healthier, more informed future. Eugene remains committed to providing trusted genetic insights, now with the added reassurance of no financial repercussions for those seeking life insurance cover. “I am so proud to be working with our team at Eugene to ensure that our community has access to the genetic counselling support they need to make informed and empowered healthcare choices that align with personal values and beliefs.” – Zoë Milgrom, Chief Clinical Officer and Co-founder of Eugene For more information on Eugene’s reproductive and preventative genetic tests, click here. Or, to schedule an interview to discuss this update in the genomics landscape with Kunal Kalro or Zoë Milgrom, contact us. Read the official Australian Government press release on the total ban on the use of adverse genetic testing results by life insurers here.
Empower your Reproductive Health with Genetic Carrier Screening
If you're considering starting a family one day, Genetic Carrier Screening is your essential tool for taking control of your reproductive health. This screening provides valuable insights to make informed choices about your family planning journey. It specifically focuses on the chances of having a child with single-gene conditions, such as cystic fibrosis, spinal muscular atrophy (SMA), and Fragile X syndrome. Why Choose Genetic Carrier Screening Genetic Carrier Screening empowers you to: Understand Combined Genetic Information: It allows you and your partner to comprehensively understand your combined genetic information, enabling you to make informed decisions about your options for conceiving. Convenience at Home: No needles or hospital visits are required with a Eugene carrier test. It's a simple and convenient saliva test that you can perform in the comfort of your home. Expert Guidance: Eugene's genetic counselling team and fertility specialists are readily available to provide personalised advice tailored to your unique situation. The Importance of Genetic Carrier Screening: Approximately 1 in 30 reproductive couples who undergo genetic carrier screening discover an increased chance of having a child with a single gene condition. Early knowledge of this risk allows you to explore various options and plan accordingly. Take the First Step: Your reproductive health matters and Genetic Carrier Screening is your first step towards a well-informed and prepared family planning journey. Whether you're already on the path to parenthood or simply considering it for the future, this screening empowers you to make choices that are right for you and your family. Begin your journey towards informed family planning with Genetic Carrier Screening today.
Medicare Rebates for Reproductive Genetic Carrier Testing in Australia.
Reproductive genetic carrier testing is a crucial step in family planning for many Australians. It helps individuals and couples identify their risk of passing on certain genetic conditions to their children. However, the cost of these tests has been a concern for many, as Medicare did not cover them in the past. The good news is that starting November 1st, 2023, some genetic conditions will be eligible for Medicare rebates. So, what does this mean for those seeking genetic carrier testing? What is Reproductive Genetic Carrier Testing?Before we delve into Medicare rebates, let's briefly explain what reproductive genetic carrier testing is. This testing involves screening potential parents to identify if they carry specific genetic mutations that could be passed on to their children, potentially causing inherited disorders. Early detection can help individuals make informed decisions about family planning, such as:- Use IVF technology (preimplantation genetic testing) to reduce the chance of having a child impacted by a genetic condition.- Conceive naturally and have a test during pregnancy (CVS or amniocentesis) to see if the pregnancy is impacted by a genetic condition.- Make informed pregnancy choices and use the information from a carrier screening test to prepare for the baby’s birth.- Use a donor egg, sperm, or embryo that does not carry the same genetic condition.Until now, reproductive genetic carrier testing was considered an out-of-pocket expense for most Australians. This meant that individuals had to bear the total cost of these essential tests, which could be a significant financial burden or a vital step missed in many reproductive journeys due to the cost.Medicare Rebates for Genetic TestsStarting November 1st, 2023, Medicare will begin covering genetic carrier testing for specific conditions. While not all genetic conditions will be eligible for rebates, this is a significant step towards making these tests more accessible and affordable for individuals and couples planning to start a family.The Three Covered Conditions1. Cystic Fibrosis (CF): CF is a genetic disorder that affects the lungs, pancreas, and other organs, leading to difficulties in breathing and mucus buildup. The Medicare rebate will now make screening for CF more accessible.2. Spinal Muscular Atrophy (SMA): SMA encompasses a group of genetic disorders that weaken the muscles, often requiring physical therapy and support devices. With the Medicare rebate, SMA screening will become a more affordable option for families planning pregnancy.3. Fragile X Syndrome (FXS): FXS is the most common cause of inherited intellectual disability. It is associated with developmental delays, lower-than-average IQ, and other health conditions. The rebate will now extend to include FXS screening.Benefits of Medicare Rebates for Genetic Carrier Testing1. Financial Relief: Individuals and couples will no longer bear the financial burden of genetic carrier testing, making it accessible to a broader range of people.2. Informed Decision-Making: With reduced costs, more people can access vital genetic information, empowering them to make informed decisions about family planning.3. Increased Awareness: The availability of Medicare rebates will likely raise awareness about the importance of genetic carrier testing, encouraging more individuals and couples to undergo screening.The introduction of Medicare rebates for genetic carrier testing in Australia, starting November 1st, 2023, is a significant development for individuals and couples planning to start a family. While not all genetic conditions will be covered, this initiative will provide financial relief and increase access to essential testing, ultimately promoting informed decision-making in family planning.Stay informed on accessing the Medicare Rebate by registering for the alerts below. You can also consult with your GP or book a free consult at Eugene to make the most of this opportunity for genetic carrier testing come November.
Understanding Gaucher Disease: Genetics & Reproductive Carrier Screening.
Condition: Gaucher DiseaseGene: GBAInheritance pattern: Autosomal recessive (AR) Gaucher Disease is a complex genetic disorder affecting the breakdown of fatty chemicals. Explore this condition, understand its types, genetic implications, and options for informed reproductive planning. What is Gaucher Disease? Gaucher Disease, a common lysosomal storage disorder, arises due to insufficient enzymes that break down Glucocerebroside—a fatty chemical. Fat-laden Gaucher cells accumulate in organs like the spleen, liver, and bone marrow, leading to diverse symptoms among affected individuals. Types of Gaucher Disease Type 1: Non-neuronopathic Gaucher Disease Severity: Mild to Severe Onset: Childhood to Adulthood Common Symptoms: Enlarged spleen and liver, anemia, lung disease, bone pain, and more. Type 2: Neuronopathic Gaucher Disease Severity: Fatal (death < 2 years) Onset: Infancy Summary: Involves severe brain stem abnormalities, leading to irreversible brain damage and often early death. Type 3: Neuronopathic Gaucher Disease Severity: Moderate to Severe Onset: Early Childhood Summary: Progresses slowly, affecting the nervous system and causing symptoms similar to Type 1. Being a Carrier of Gaucher Disease Carriers have a genetic variation in one "GBA" gene, experiencing no symptoms themselves. If both partners are carriers, there's a 25% (1 in 4) chance of having an affected child. Genetics influence families, necessitating awareness and testing discussions among relatives. Gaucher Disease Carrier Frequency Ethnicity influences carrier rates. Mainly affecting Ashkenazi Jews, Gaucher Disease's carrier rate is 1 in 15 for this group. Across ethnicities, the rate is 1 in 158. Reproductive Planning and Support Pre-pregnancy, screening options include in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). During pregnancy, tests diagnose genetic status as early as the 11th week. Clinical examination confirms diagnosis after pregnancy. Managing Gaucher Disease Though there's no cure, management approaches exist: Early intervention for infants' breathing difficulties. Nutritious diets for growth-restricted children. Dialysis or transplant for kidney failure. Medication addressing high blood pressure and symptoms. Prognosis and Choices Prognosis varies. Type 1 Gaucher Disease's prognosis depends on severity and diagnosis timing. Type 2 and Perinatal lethal Gaucher Disease often have limited treatment options, while Type 3 involves a shortened lifespan. Seek Professional Guidance Carrier screening is an essential option for those who want to understand the chance of having a child with Gaucher Disease. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are carriers of GBA as well as more than 560 other genetic conditions. This information supports people to make informed decisions about their family planning and pregnancy care options. Eugene’s Genetic Counsellors support you before, during and after results and are available to help you make the best decision based on your values and needs. Explore the latest reproductive carrier screening options fully supported by our genetic counsellors. More information and resources:Brain Foundation Australia - https://brainfoundation.org.au/disorders/gaucher-diseaseGenetics Home Reference - https://ghr.nlm.nih.gov/condition/gaucher-disease#inheritance
Understanding Polycystic Kidney Disease: Genetics & Reproductive Carrier Screening.
Abbreviation: PKDGene: PKHD1Inheritance pattern: Autosomal recessive (AR) Polycystic Kidney Disease (PKD) is a genetic disorder that primarily affects the kidneys, potentially leading to damage in other organs as well. Understanding this condition, its implications, and available options for reproductive planning is crucial. What is Polycystic Kidney Disease (PKHD1 related)? Polycystic Kidney Disease (PKHD1 related) is characterised by the development of fluid-filled sacs, or cysts, on the kidneys. These cysts hinder the kidneys' ability to effectively filter waste from the blood, resulting in enlarged kidneys and a potential risk of kidney failure. Being a Carrier of Polycystic Kidney Disease Carriers of Polycystic Kidney Disease (PKHD1 related) possess a genetic variation in one of their "PKHD1" genes. Carriers themselves don't experience any symptoms of the condition and are not affected by it. However, if both partners in a couple are carriers, there's a 25% (1 in 4) chance that their offspring will be affected by the disease. Genetics is a Family Affair Genetics plays a role in family health. If you are identified as a carrier: There's a 50% chance of passing the genetic variation to your offspring, making them carriers without showing symptoms. Close family members might also be carriers. Sharing this information can help them understand their risk and options. Carrier Frequency of Polycystic Kidney Disease Ethnic Group Carrier Rate Affected Rate Pan-ethnic 1 in 70 1 in ... Reproductive Planning and Support Carrier screening is essential before pregnancy, offering options like in-vitro fertilisation with pre-implantation genetic diagnosis. During pregnancy, tests can diagnose the genetic status, and ultrasound can detect abnormalities. After pregnancy, clinical examination and genetic testing confirm the diagnosis. Managing Polycystic Kidney Disease While there's no cure, management options are available: Early intervention for breathing difficulties in infants. Nutritious diet for growth-restricted children. Dialysis or kidney transplant for kidney failure. Medication to address symptoms like high blood pressure. Prognosis and Options Affected children often face kidney failure by age 10, with some infants experiencing life-threatening breathing difficulties. Prognosis improves with proper management. If both partners are carriers, options such as leaving it to chance, prenatal diagnosis, IVF with PGD, or other choices can help avoid passing on the disease. Seek Professional Guidance Carrier screening is an essential option for those who want to understand the chance of having a child with Polycystic Kidney Disease. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are carriers of PKD, as well as more than 560 other genetic conditions. This information supports people to make informed decisions about their family planning and pregnancy care options. Eugene’s Genetic Counsellors support you before, during and after results and are available to help you make the best decision, based on your values and needs. Explore the latest reproductive carrier screening options fully supported by our genetic counsellors. More information and resources:Polycystic Kidney Disease Australia - https://pkdaustralia.org/Genetics Home Reference - https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease
