By Jung-Yoon Huh Medical Principal of The Madison Medical Practice Northbridge
General practice holds a unique place in the health care system – the focus on preventive care. It’s the very reason I chose this specialty and a sentiment shared by many of my colleagues. While it may not have the glamour of high-profile surgeries often depicted in medical shows, its significance runs deep.
I was thrilled when reproductive carrier screening became accessible through Medicare last November. This test targets two autosomal recessive disorders and one X-linked disorder: cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). The process is remarkably straightforward—a simple blood test with results delivered within weeks. If a woman is not a carrier, the journey ends there. However, if she is a carrier, the next step involves testing her current partner and providing genetic counselling as needed.
Although this can be conducted during pregnancy, a positive result can lead to more complex and distressing implications. That’s why I seize every opportunity to introduce this screening test during various consultations. Whether discussing contraception, STI screenings, routine vaccinations for infants, or addressing concerns like heavy menstrual bleeding and iron deficiency, I broach the topic. Recognising the time constraints many women face—juggling work and family—I provide written materials and a request form, allowing them to choose the most convenient time for the test.
The brilliance lies not only in the test’s accessibility and simplicity but also in its potential to transform lives. For prospective parents, it offers a chance to prevent these conditions in their children—an opportunity that is priceless and life-changing. In the realm of general practice, prevention and education are as vital as treatment. So, let us continue our proactive journey, championing health and well-being.
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