Community stories
I’m a known carrier of a high-risk genetic condition.
Since I can remember, I’ve known that I am a carrier of a rare genetic condition. I’ve understood the risks involved in pregnancy and leaned into the supportive healthcare systems around me. In the late 1990s, my mother, who is also a carrier of Ornithine transcarbamylase (OTC) deficiency, was pregnant with me. During her pregnancy, she received confirmation that I was also a carrier of OTC, a rare x-linked genetic disorder connected to the urea cycle and metabolism. Concerns related to x-linked conditions pose greater risks to men (who have XY chromosomes) compared to biological women who have XX genes - meaning that if one gene isn’t functioning as expected, the other can make up for it. The OTC gene variation passed down to me means I have an increased risk of complications during pregnancy or delivery and is fatal for all newborn boys. I take tablets to help my urea cycle function and have semi-regular appointments at the metabolic clinic to ensure I am not at increased risk of high ammonia levels. As hard as it is, I understood my individual risks and was ok with it. However, things got a lot more serious when my partner and I began to discuss our futures. Things became a lot more real. I remember early on in our relationship, my partner and I sat at a cafe after one of my metabolic appointments and the tears could not stop. The mental awareness of my unique situation was something I was prepared for, the emotional one, however, was and still is a struggle. As my partner and I began to explore pregnancy, the genetic counsellor I was seeing suggested that I look into Eugene for a couple’s carrier screening. We did this test to learn if we were carriers of any other conditions that we should be aware of. Eugene’s genetic counsellors provided me with personalised genetic education, guided pathways and support along pre-pregnancy and the pregnancy journey. The sense of insecurity and inadequacy associated with fertility and pregnancy is unique to those of us who experience it directly. I remember before my results appointment, I was an emotional wreck; lot’s of “what if…? And feelings of my own reproductive inadequacy. During our results appointment, our Eugene genetic counsellor held space for us to explore our feelings throughout this whole process, and created a safe space to ask all questions - no matter how silly we may feel they are! The Eugene test empowered us as a couple with our individual reproductive carrier statuses, and now we are able to have honest and educated conversations about our future. Something I love about Eugene is their ongoing support. I know that if I have further questions, or if new information comes out regarding my results, they will update me in a friendly, supportive and informative way. Eugene provides an accessible and convenient healthcare experience for me. When I received my results from a genetic counsellor in a simplified and empathetic way, explaining all of my options, which then allowed me to make an informed decision about how to proceed. Eugene acts as a gene translator and then gives us the power to decide what’s next. It's important to get clear on your options as a high-risk carrier. I’ve recommended Eugene to countless friends and family - if you are feeling unsure about doing the Eugene test, a free consultation is the best way to learn more about carrier screening.
In conversation with Kunal Kalro, Founder & CEO of Eugene
We spoke to Kunal Kalro about his journey with Eugene, changes he’d like to see within the healthcare system, Eugene’s proactive heart health test and future plans for the company. “The future of healthcare is about people taking control of their health and being armed with the knowledge that empowers them to make decisions that are right for them.” Kunal, can you tell us a little about the inspiration and journey behind Eugene? I’ve been starting companies since I was 23 and have always been interested in entrepreneurship to solve problems while doing work you love. After my last company, I wanted to work on something that could genuinely add value to the world and communities. Around this time, my dad had recently passed away from a heart attack, and his experience in the health system broke me. His experience opened my eyes to the enormous disparities in access to good healthcare. The disparities were even more true for preventive healthcare. The healthcare available to us is geared toward reacting when something terrible happens rather than preventing those things from happening in the first place. I also saw the growing power of genomic technologies to predict and prevent health issues long before they happen proactively (and the cost was falling fast!). It was a unique moment in time to create something that could make it easy for all people and families to access these incredible advances to predict and prevent healthcare issues before they happen and live healthier and happier lives. Eugene has just launched a proactive heart health product — what is it and why is it important? I cannot stress enough the importance of heart health! It affects a majority of Australians and is a massive burden on our health system, but the cost is even more significant for the families who face it. Heart disease is such a huge issue, and there is so much we can do to prevent it. Good health does start with your genetics. Eugene’s proactive heart health test can help people understand more about their genetic and inherited risk of heart disease, and armed with this knowledge; we can do so much more to prevent it from happening in the first place. Based on your genetics, I’m talking about personalised information to help you prevent heart disease. And to be honest, for me, this is super personal. After losing my dad, uncles and aunties to heart disease, it’s time for us to break the cycle. So, of course, I was first in line to do the test, and I’m going to make my whole family do it too! 😅 How can we all become more conscious of our health? By finding strength in the knowledge! Dealing with health issues can be scary, and sometimes it feels easier to avoid them and ignore them. How many of us have put off going to the doctor when we’re feeling sick? And when we finally go, how many of us feel guilty when we feel better with the thought of “ugh, I should have just gone sooner!” I feel that we ought to redefine our relationship with health with a more positive and preventive outlook. It’s not about going to the doctor when you get sick, it’s about devoting energy to being well, and preventative care is a massive part of that. The more knowledge we have, the more we can prevent it. Even more so, we need to bring others along the journey. Our generation has so much more opportunity and access, and we need to share this with our families and friends. Staying healthy is a communal effort, and it’s up to us to look after ourselves and our families! What changes would you most like to see in healthcare? What is the future of healthcare from your perspective? I would like to see a world where more and more healthcare spending is devoted to preventing issues rather than reacting to them. I think the future of healthcare is about people taking control of their health while being armed with knowledge. Only then we are empowered to make decisions that are right for us. I also see a world where we can continue pushing the price of genomics down and make it a leapfrog healthcare technology around the world. It’s like when so much of the developing world skipped cable internet and went straight to the next generation mobile internet. Genomics has the opportunity to represent a similar seismic shift in access to next-generation preventive healthcare worldwide, and at Eugene, we want to accelerate this shift. Can you tell us about some of the incredible other businesses and ideas which are driving meaningful change in healthcare? Seer Medical is doing amazing-amazing things in the epilepsy space. Can you share your own health and well-being rituals? These are a few things that ground me: These are a few things that ground me: I never miss a gym session. It’s almost a form of meditation for me. I’m also a quantified self nerd so eating healthy and intermittent fasting is another one. Dancing is everything. When I’m stressed, I like to paint. And sometimes just going to a park or in nature, sitting on the ground and feeling connected to the earth. It’s genuinely grounding… 🥁 What are you most grateful for? My health, my friends, my family, my work, my team, and finally getting back to international travel. What is next on the horizon for Eugene and yourself personally? At Eugene, we’ll continue expanding our products and expand internationally to help more and more people be more proactive about their health in different ways. I’m a child of immigrants and an immigrant myself, so a global perspective is pretty much baked into my DNA (tacky pun much?!). That’s why I’m so excited to take what we’ve been working on at Eugene into more and more global communities. REFERENCES 1. Kunal Kalro, Founder & CEO of Eugene.
