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 Specialist

Dr 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 Academy

Myhealth 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 CPD

• 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.

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