Advances in Genetics: The Impact on Families Today and in the Future

Courtney Sebold, CGC, is a Network Genetic Counselor at PWNHealth

PWN provides clinical oversight for consumer-initiated supplemental newborn screen genetic tests. Parents can request this test to screen their infant or young child for additional genetic conditions that might not be included on their state newborn screen. I had the opportunity to work with a family that received a positive test result for their toddler. At the time of our conversation, the child had no outward symptoms of the condition. The family was unlikely to have learned about the diagnosis until years later, after symptoms had appeared. Early diagnosis meant that the child could get early screening and treatment, possibly avoiding major health problems down the road. This was only possible because the family was interested in and able to directly access this additional genetic testing.

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PWNHealth

PWNHealth

At PWNHealth, our mission is to enable safe and easy access to diagnostic testing.