Fig. 1: Comparison of two distinct testing pathways: diagnostic and screening. | Genetics in Medicine

Fig. 1: Comparison of two distinct testing pathways: diagnostic and screening.

From: DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Fig. 1

The diagnostic pathway (a) is prompted by clinical signs, symptoms, or a positive family history. The screening pathway (b, c) is prompted by a pathogenic or likely pathogenic variant reported on the DNA-based test aimed at identifying those individuals with sufficient risk of a specific disorder to warrant further investigation or direct preventive action. While many of the elements of the two pathways are the same, they are in a different order in the diagnostic versus screening pathways. In (c) it is the absence of diagnostic findings signifying a “nonpenetrant risk” that prompts condition-specific periodic re-evaluation.

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