Episode
Reproductive Genetic Carrier Screening and Genetic Testing What Every GP Should Know Dr Alice Huang
- Published
- Apr 14, 2026
- Duration seconds
- 1600
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Summary
In this episode, we bring you a recent Myhealth Academy webinar with Dr Alice Huang on Reproductive Genetic Carrier Screening and Genetic Testing: What Every GP Should Know . This session explores the evolving role of genetic screening in reproductive care, equipping GPs with the knowledge to navigate testing options, interpret results, and support patients through increasingly complex clinical decisions. Description: Reproductive genetic carrier screening (RGCS) is emerging as an essential element of preconception and fertility care within Australian general practice. It plays a vital role in providing individuals and couples with critical information about their risks of having children affected by serious autosomal recessive or X-linked genetic conditions (RACGP, 2023). As primary points of contact for reproductive health, general practitioners (GPs) are uniquely positioned to facilitate early risk detection, offer informed reproductive choices, and support couples in making timely decisions that align with their reproductive plans. Recent data from the Mackenzie’s Mission project reveal that approximately 1 in 50 reproductive couples in Australia are identified as increased chance carriers through expanded panel screening, highlighting both the prevalence and importance of RGCS in primary care (Archibald et al., 2022). Despite this, the integration of RGCS into routine general practice remains inconsistent, partly due to gaps in clinical knowledge, unfamiliarity with available testing options, and unclear referral pathways to genetics specialists (RACGP, 2023). National guidelines recommend that RGCS be offered to all women and couples planning pregnancy or early pregnancy, irrespective of family history or ethnicity, to optimise reproductive options and facilitate…