From Variants to Voices: Rethinking Success in Genomic Medicine

"We found the variant, but now what?" asks Dina Abdelhakam

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Progress in genomic medicine has been measured by technical achievements, but the journey for patients often begins after a diagnosis is made.
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Families frequently face uncertainties and decisions after receiving a genetic diagnosis, highlighting the need for effective communication and support.
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Laboratories focus on quality indicators like turnaround time and diagnostic yield, but these metrics do not assess patient understanding or follow-up.
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As genomic medicine evolves, the challenge includes translating scientific advancements into meaningful care and informed decision-making for families.
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Culturally sensitive education and accessible follow-up care are essential for effective genomic medicine, especially in regions with limited resources.

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