Episode 6: Prenatal Genomic Sequencing Explained - How Exome & Genome Sequencing can Help Diagnose Conditions in Pregnancy

In this episode of the GenomeCare Podcast, we explore prenatal genomic sequencing and how technologies like whole exome sequencing and whole genome sequencing are transforming diagnosis when differences are detected during pregnancy.Ali interviews genetic counsellor Dr Sarah Long, who works in the public hospital system in Western Australia and has extensive experience in prenatal genomics, clinical genetics, and research. She completed her PhD studying prenatal genomic technologies and continues to research how genomic testing can be delivered in ways that best support families. Sarah was involved in the PREGEN study, which examined the implementation of genomic testing during pregnancy and demonstrated an increased diagnostic rate when genomic sequencing is used after ultrasound findings.  Together Ali and Sarah unpack how genomic sequencing works in pregnancy, when it is used, and what the experience is like for people navigating testing after an unexpected ultrasound finding.The conversation explores the clinical and emotional dimensions of prenatal genomics, including how genetic counsellors support families through uncertainty and complex decision-making.What whole exome sequencing and whole genome sequencing are and how they workHow genomic sequencing is used when changes are detected on prenatal ultrasoundThe difference between exome sequencing and genome sequencingWhy testing is often done as a trio (baby and both parents)What a “negative” or uninformative result really meansHow clinicians interpret complex findings such as variants of uncertain significanceThe role of genetic counsellors in supporting families through uncertaintyReal patient experiences from the PREGEN prenatal genomics studyA remarkable case where prenatal sequencing enabled life-saving treatment immediately after birthSarah Long is a genetic counsellor working in the public hospital system in Western Australia. Her work spans clinical genetics, prenatal genomics, and research into patient experiences of genomic testing during pregnancy. Sarah is currently working on the GeneSafe study, exploring perspectives on invasive versus non-invasive genomic testing during pregnancy.If you’re interested in Sarah’s research or would like to participate in her study, you can connect with her on LinkedIn.ConnectIf you’d like to learn more about prenatal diagnostic procedures:🎧 Episode 3 – CVS and Amniocentesis ExplainedFeaturing genetic counsellor Jillian Kennedy, who discusses how these procedures work and when they are used.