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Podcast: Demystifying Genetics
Episode: MTHFR and Misunderstandings: Counselling Through Confusion. Demystifying Genetics with Sarah Long
Description: This episode features a conversation with genetic counsellor Sarah Long, who shares her insights into non-invasive prenatal testing (NIPT) and its implications for expectant parents. We discuss the importance of positive predictive values, variations of unknown significance, and the ethical dilemmas faced by families navigating genetic testing.
• Exploring the evolution and methodologies of NIPTÂ
• Clarifying the concept of positive predictive value in genetic testingÂ
• Highlighting the crucial role of pre-test and post-test counsellingÂ
• Discussing the emotional impact of variants of unknown significanceÂ
• Understanding parental perspectives on knowledge versus uncertainty in testingÂ
• Addressing the misinformatio...