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In most cases, a reproductive couple will only become aware of their increase chance of their offspring having an autosomal recessive or X-linked condition, when a child is born into that family with one of these rare genetic diseases. There is screening available for specific conditions where there is a strong family history. Can or should this screening be offered to the general population? We certainly have the genomic sequencing technology via mass expanded reproductive carrier screening. Would it be acceptable? The Mackenzie’s Mission Investigators, Kirk E et al (N Engl J Med 2024;391:1877–1889. DOI: 10.1056/NEJMoa2314768), have asked …
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