Healthcare Resources
How to refer a Patient for Proactive Genetic Testing at Eugene
At Eugene, precision medicine starts with knowledge. Our clinician-led approach ensures that your patients receive expert genetic counselling at every step—whether they are planning a family or proactively managing their long-term health. With clinically relevant insights, clear reports, and expert support, we help you empower patients with clarity, compassion, and confidence. Referring a patient takes less than 60 seconds. Simply visit: eugenelabs.com/pages/refer-a-patient For patients seeking to understand and manage their inherited risk of chronic conditions, Eugene offers a range of preventive genomic screening options. These tests analyse pathogenic variants in clinically actionable genes with strong evidence and established management guidelines. Proactive, presymptomatic, and predictive genetic testing are all used to assess an individual’s risk of developing certain health conditions, but they differ in context and purpose. Eugene is best suited for people wanting to be proactive. These individuals do not necessarily have a specific or strong family history or symptoms. Screening helps to anticipate risk before it’s suspected, often as part of preventive health care. Results help estimate the likelihood of developing a condition where the gene variant increases risk but doesn’t guarantee it (e.g., BRCA1/2 and cancer risk). If your patient has a known familial pathogenic variant and the individual has no symptoms yet they may be eligible for funded testing through a public tertiary service. 1. Proactive Cancer Risk Screening This test examines germline variants in high-penetrance genes associated with hereditary cancer syndromes. It includes: BRCA1/BRCA2, associated with hereditary breast and ovarian cancer MLH1, MSH2, MSH6, PMS2, EPCAM, related to Lynch syndrome TP53, PALB2, ATM, among others Screening supports early detection strategies, surveillance, and preventive interventions, such as risk-reducing surgery or chemoprevention. Review the genes screened for Proactive Cancer Risk Test 2. Proactive Heart Disease Screening This panel focuses on genetic causes of cardiovascular disease, including: Hypertrophic cardiomyopathy (MYH7, MYBPC3) Long QT syndrome (KCNQ1, KCNH2, SCN5A) Familial hypercholesterolaemia (LDLR, APOB, PCSK9) Identifying patients with inherited cardiovascular risk allows for timely medical management, lifestyle modifications, and cascade testing of at-risk relatives. Review the genes screened for Proactive Heart Health Test 3. Comprehensive Preventive Health Screening This combines both cardiac and cancer-related genes into a single panel, ideal for patients who want a more comprehensive understanding of their genomic risk profile. It also includes genes associated with other common conditions, such as haemochromatosis and factor V Leiden. These tests should not be used to diagnose an existing condition, but rather to help you and your patients proactively manage potential risks in the future. Review the genes screened for the Preventive Health Test.
