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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
Understanding Genetic Conditions: Spinal muscular atrophy (SMA)
Genetic conditions are individually rare but when combined are likely to affect 1-2% of babies born every year and while genetic conditions are hugely variable in the way they impact health growth and development, they are rarely curable. Spinal muscular atrophy (SMA) is a devastating genetic disorder that affects the nerve cells in the spinal cord, leading to muscle weakness and atrophy. This condition can range from mild to severe, with the most severe form, known as SMA type 1, appearing in infants before the age of six months. These infants may have difficulty with movements such as sucking and swallowing, and may eventually lose the ability to move or breathe on their own. SMA is inherited in an autosomal recessive manner, meaning that for an individual to be affected they need to inherit two copies of the SMN1 (Survival Motor Neuron) gene with a deleterious variation, one from each parent. Approximately 1 in 40 people are carriers of SMA. Carriers are healthy and have no way of knowing this unless reproductive carrier screening is performed as part of pre pregnancy planning of early pregnancy care. When a couple are both found to be carriers of SMA, there is a 25% (1 in 4) chance with each pregnancy of having a child with SMA. Carrier screening is recommended by RANZCOG and RACGP (the governing bodies for Obstetricians and GPs in Australia and New Zealand). For couples who find out that they have a high chance of having a child with SMA there are many options they can consider to reduce the chances of having an affected child. These can include, but are not limited to prenatal diagnosis of a naturally conceived pregnancy or IVF with Preimplantation Genetic Testing (PGT). For couples who know of their risk in advance, medicare support is available for both prenatal diagnosis and IVF. Your doctor is likely to recommend speaking to a genetic counsellor about your options. Overall, SMA is a serious genetic disorder that can have a significant impact on individuals and their families. While the management and treatment for SMA has come a long way, it is still considered to be a life limiting condition Even though there is no cure, there are treatment options available to help manage the symptoms of the condition and improve the quality of life for those living with SMA. One of these options is drug treatment called Nusinersen (marketed as Spinraza). This drug works by increasing the amount of the SMN protein, which is essential for the survival of motor neurons. It has been shown to improve muscle function and mobility in individuals with SMA. Another potential treatment option for SMA is gene therapy. In recent clinical trials, gene therapy has shown promise in improving muscle function and supporting life in individuals with SMA. However, more research is needed to fully understand the effectiveness and safety of this approach. Carrier screening is an essential option for those who want to understand the chance of having a child with SMA. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are carriers of SMA, 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 can 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.
Navigating Genetic Disparities in Healthcare: Addressing Racial Differences in Disease Risk
As at-home genetic testing grows with the upcoming Medicare rebate for carrier screening, patients will bring their results to physicians for reaction and response. Physicians will need to be proactively prepared. Providers need to educate themselves about the critical differences that exist in their patient populations. Health disparities, while driven by many social factors, result from some clinicians needing to apply known nuances in the care of special populations. Today, we revisit a study published on The Conversation by MD Greg L Hall. Geneticists, meanwhile, are also getting more tailored information about disease risk and prevalence as genetic testing in medical research centers continues. Physicians accept that cystic fibrosis, for example, is much more common in people with Northern European ancestry and that sickle cell disease occurs dramatically more often in people with African origins. These commonly accepted racial and ethnic differences in disease prevalence are just the tip of the iceberg when looking at clinical differences that vary based on genetics. But there’s a problem, a recent study from the National Institutes of Health found. Many physicians and other providers are uncomfortable discussing race with their patients, and also reticent to connect race or ethnicity to genetics and clinical decision-making, the study suggested. Overall, physician focus groups “asserted that genetics has a limited role in explaining racial differences in health,” the authors added. As a primary care physician who teaches urban health to medical students and as a state minority health commissioner who advocates for health equity, I see this as a problem that health care systems, and their providers, need to address. The state of the science Commercial DNA tests, such as those provided by 23andMe, not only give people their racial and ethnic lineage but also can provide a weighted risk for diabetes, stomach ulcers, cancer and many other diseases. In April, the FDA granted approval to 23andMe to sell reports to consumers that tell them whether they may be at heightened risk. These companies already have the data that describe the risks for health problems based on the percentage of their ancestry composition. Those differences have been published and known in academic circles for many years. With the widespread availability of DNA tests, patients will now know their increased individual risks. For example, Ashkenazi Jews, a specific Jewish ethnic population originating from Central and Eastern Europe, are known for having a disproportionate occurrence of a number of diseases, including Tay-Sachs disease, amyloidosis, breast cancer, colon cancer and many more. The BRCA1/2 gene mutation greatly increases the propensity for breast and colon cancer and occurs in 1 in 40 people of Ashkenazi Jewish heritage, whereas 1 in 800 Americans in general carry that mutation. This 20-fold increased risk should prompt more aggressive screening for the gene, and more frequent and earlier mammography and colonoscopies in Ashkenazi Jews compared to the general population. Relatively higher rates of these cancers occur in certain populations, such as Ashkenazi Jews, and demonstrates the need for more nuanced care based on data that is already available. But this information is too infrequently accessed by providers. Genetics knowledge growing fast African-Americans are another group with higher rates of certain genetically driven diseases. African-American men have an increased occurrence of prostate cancer, kidney failure, stroke and other health problems. Prostate cancer in African-American men, for example, grows faster and metastasizes four times as often than in European-Americans. But despite this increased risk for prostate cancer, doctors’ use of the PSA (prostate specific antigen), a test that works well with identifying prostate cancer in African-Americans, has steadily decreased due to recommendations aimed at majority patients who come from European-related heritage. In European-Americans, prostate cancer can be more indolent and occurs at a lower rate than African-Americans. Also, certain types of blood pressure medications – ACE inhibitors, for example – lead to worse outcomes in African-Americans when used singularly as first-line therapy for high blood pressure, yet these medications work very well in Americans of European decent, a large study of hypertension therapy found. A follow-up study that looked at subsequent clinical practices – which was done in response to changed recommendations based on race – showed nearly a third of African-American hypertensive patients continued to be prescribed medications that cause worse outcomes. African-Americans also have a four-fold increased risk for renal disease leading to dialysis. Geneticists suspect that they have identified the gene that drives this difference yet most clinicians do not have the resources to test for this gene and identify the 30 percent of African-Americans that carry it. And a gene that greatly increases the risk for Alzheimer’s disease, APOE-4, has also been identified and occurs disproportionately higher in European-Americans yet is almost nonexistent in African-Americans and is inconsistent in Hispanic-Americans. Great controversy exists surrounding the testing for this gene, given the devastating impact it could have on a patient or family. (Hispanic and African-Americans still have a very significant risk for Alzheimer’s disease, but it is not driven by this gene). Genetically different responses to medications Patient response to medications vary according to the presence or absence of genetic variants, which can impact the dose and the effect of many pharmaceuticals. Some of these differences can be anticipated based on race or ethnicity. For example, Warfarin is a commonly used medication in the treatment of a number of cardiovascular disorders including atrial fibrillation, deep vein thrombosis and heart valve replacement. It shows wide variations in dosing, with Americans of Asian descent requiring less medication and African-Americans requiring more to achieve equal effects. European-Americans have a variant gene that make having a major bleed on Warfarin much higher. A popular cholesterol-lowering medication, Rosuvastatin, better known as trade name Crestor, is twice as powerful in patients of Asian descent, and their manufacturing label indicates starting at a much lower dose in this population. In fact, the highest manufactured pill dose of Crestor is “contraindicated in Asian patients.” Patient-centered care is the key Because of the “patient-centered” movement in hospitals, clinics and insurance plans, providers are now feeling increased pressure to improve the quality of care provided to individual patients. Many outcomes and patient cost of care are now tracked by providers. And countless well-designed studies have validated verified differences in the clinical care of a number of pervasive diseases based on ancestry. Providers need to educate themselves about the important differences that exist in their patient populations. Health disparities, while driven by a number of social factors, are also the result of some clinicians not applying known nuances in the care of special populations. As home genetic testing grows, patients will be bringing their results to physicians for reaction and response. Physicians will need to be proactively prepared. This article was originally published on The Conversation. Read the original article. Author: Greg Hall, Case Western Reserve University Gregory L. Hall, MD, is a primary care physician practicing in Cleveland, Ohio for over 20 years. A native Clevelander, he attended Williams College and majored in psychology while taking pre-med coursework. In 2010, he was appointed to the Cuyahoga County Board of Health which oversees Ohio’s largest county’s broad range of quality driven public health programs and services.
How to Understand Your Genetic Cancer Risk
At Eugene, our mission is to make essential health insights accessible. Our tests are designed for people who are eager to understand their genetic makeup and make informed decisions about their health, particularly when it comes to the risk of specific cancers. We understand that the thought of developing cancer can be scary, and it's natural to want to take proactive measures to safeguard your health and that of your family. We offer support and genetic guidance every step of the way. Let's jump right in! Step 1: Order Your Proactive Cancer Risk Test Online: Ordering your cancer risk test is quick and easy with Eugene. Simply order the cancer risk test on our website. We offer free, prompt delivery to your doorstep anywhere in Australia. Step 2: Provide Your Health Background: Your genetic makeup is unique, and so is your health story. When you order your test kit, you'll have the opportunity to share your personal health history, family history and health goals. You can also provide your doctor's details so we can collaborate to get a holistic understanding of your health journey. Step 3: Give Your Saliva Sample: Providing a saliva sample for genetic testing is simple, non-invasive, and can be done in the comfort of your own home. The test kit we provide includes everything you need to collect a sample and return it to us using the provided pre-paid mailer. Step 4: Access Health Insights with Expert Genetic Counselling: After our accredited laboratory analyses your genetic information, we'll send you a comprehensive report with insights into your cancer risk. We understand that understanding these complex concepts may feel overwhelming, which is why we provide ongoing support through our certified genetic counsellors. You'll have the opportunity to schedule a video consultation with them to discuss your results and answer any questions you may have. Conclusion Deciding to proactively manage your genetic cancer risk is a significant step towards being proactive about your health. And here at Eugene, we're committed to offering comprehensive, accessible, and easy-to-use support to guide you through every step of this journey. No matter your family health history or personal goals, we're here to empower you with knowledge and confidence. So, take action, order your test kit today and start managing your genetic cancer risk.
