MTHFR and Misunderstandings: Counselling Through Confusion. Demystifying Genetics with Sarah Long

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 NIPT 

• Clarifying the concept of positive predictive value in genetic testing 

• Highlighting the crucial role of pre-test and post-test counselling 

• Discussing the emotional impact of variants of unknown significance 

• Understanding parental perspectives on knowledge versus uncertainty in testing 

• Addressing the misinformation surrounding the MTHFR gene 

• Reflecting on the ethical considerations of genetic screening and disability 



Listen to the episode for an enriching exploration of genetics that concerns us all!

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