Reproductive Genetic Carrier Screening and Genetic Testing What Every GP Should Know Dr Alice Huang

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 early risk identification (RACGP, 2023).This myhealth academy educational session aims to address these gaps by enhancing GPs’ understanding of test selection, clinical utility, referral pathways, and patient communication strategies. Improving GP confidence and competence in these areas is crucial to increasing appropriate screening uptake, optimising reproductive outcomes, and ensuring comprehensive, patient-centred care.About Dr Alice Huang:MBBS(Hons), FRANZCOG, MMED (Rep)Gynaecologist and Fertility SpecialistDr Alice Huang is a fertility specialist and gynaecologist in Melbourne with extensive experience supporting individuals and couples on their path to building a family. She provides clear, evidence-based guidance and personalised care with compassion, honesty, and clinical rigour.Areas of care: IVF, egg freezing, donor treatment, miscarriage care, and reproductive gynaecology.CPD:To claim your CPD hours for this podcast, simply log in to Myhealth AcademyMyhealth Academy Link: https://lms-academy.myhealth.net.au/login/index.php?tenant=MHAC01 CPD for GPs - reflective questions to help you self claim Reviewing Performance CPDIdentify and summarise 3 key points relevant to your scope of practice.Identify the key clinical learnings that may be incorporated into the clinical assessment, work-up and/or management plan for appropriate patients.If relevant, would you change any of your management strategies for those patients identified by appropriate screening, examination and investigation.-------------------------------------------------------------------------------If you are a General Practitioner who gets invited to dozens of webinars a month. The General Practice Clinical Sessions Podcast is designed for you.Instead of giving up an evening with your family for a live webinar or your weekend for a conference, you can listen to it here whenever it's convenient, in half the time and while you are commuting, exercising or even walking the dog.It's the same education, without interrupting your life.GPs can also earn CPD hours.Earn Educational Activity (EA) CPD without sacrificing time with your family.Listen to your Clinical Sessions Podcasts on your commute or while you exercise. Then each week, calculate the amount of time you invest listening and count that as self claimed Educational Activities (EA).Earn Reviewing Performance (RP) CPD without sacrificing time with your family.After each podcast, pause for a few minutes and identify and summarise 3 key points relevant to your scope of practice.Identify the key clinical learnings that may be incorporated into the clinical assessment, work-up and/or management plan for appropriate patients.If relevant, would you change any of your management strategies for those patients identified by appropriate screening, examination and investigation.Invest 10 minutes per podcast mentally reviewing your practice. When you listen to 6 podcasts per week, you have earned an hour of Reviewing Performance CPD you can self claim.Remember to document your learning!Earn Measuring Outcomes (MO) CPD without sacrificing time with your family.To claim MO, you need:A baseline measurementA change in practiceA re-measurementReflection on the outcome1. Identify a measurable change. After the podcast, ask:“What will I do differently on Monday?”Example:Start using a screening toolChange prescribing habitsIncrease documentation of a risk factor2. Measure your baseline (quick audit). Do a small, realistic auditExamples:Review last 10 patients with condition X% who had guideline-based management% with documented counselling3. Implement the change. Apply the idea from the podcast for 2–4 weeksCould be as simple as a checklist, template, or reminder4. Re-measure. Repeat the same audit:Same sample sizeSame criteria5. Reflect & Document:What changed?Did outcomes improve?What will you keep doing?If you enjoy learning through podcasts and video podcasts then you can also access thousands of premium podcasts with PowerPoint Slides at https://www.armchairmedical.tv/podcastsEnjoying the episode?⭐ Rate this episode➕ Follow the podcast💬 Share it with a colleague who’d value conference learning without the time awayDisclaimer: Content is for health professionals and general educational purposes only. It is not medical advice or a substitute for independent clinical judgement. Always consult current guidelines, product information and local protocols. Views expressed are those of the presenters and not necessarily ArmchairMedical. ArmchairMedical accepts no responsibility or liability for any loss or harm resulting from reliance on the information provided.Visit https://www.armchairmedical.tv/podcasts for more information.