Genetic testing requires more than just a binary result

Fertility specialist Oluyemisi Famuyiwa discusses their article "Why carrier screening results are complex." Oluyemisi explores the transition to "Genetic Carrier Screening 3.0," a new era where expanded panels reveal hidden complexities that defy simple positive or negative interpretations. The conversation highlights how specific variations in genes like CFTR and SMN1 can lead to unexpected clinical consequences, such as male infertility or silent carrier status in spinal muscular atrophy. By examining the nuances of hemoglobinopathies and X-linked conditions, Oluyemisi explains why being a "carrier" often has direct health implications for the parents themselves, particularly mothers. This episode emphasizes the urgent need for expert interpretation and counseling to ensure patients truly understand the genetic information in their hands. Advanced science demands advanced communication to protect your family's future.

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