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Decoding Carrier Screening
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"Decoding Carrier Screening"

Carrier screening to detect the presence of heritable genetic defects has been an important element of reproductive health strategies for over 50 years. Until recently, however, the practice has been restricted to a limited number of single-gene tests offered mainly to higher-risk individuals or populations based on race, ethnicity, or ancestry. But the landscape of carrier screening and its role in reproductive health are changing fast.

As our global society becomes more interconnected and culturally diverse, racial and ethnic distinctions are becoming blurred, making it more difficult to define who is at risk. At the same time, remarkable technological and scientific advances are converging in a way that is rapidly transforming our knowledge of the many genes and variants underlying heritable diseases, as well as the tools available for carrier testing.

With today’s increasingly sophisticated molecular genetic analysis tools—which include high-density microarrays, next-generation sequencing (NGS), and powerful bioinformatics— hundreds of disorders can now be screened at once using a single sample, opening up the possibility of more comprehensive and universal carrier screening referred to as expanded carrier screening (ECS).

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