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Table 1 Domain of impact (what)

From: Determining the utility of diagnostic genomics: a conceptual framework

Extent of impact with example measures

Type of utility

Low impact

Moderate impact

High impact

(+)

(++)

(+++)

(i) Diagnostic

Clarified diagnosis

Changed diagnosis

New diagnosis

(ii) Reproductive

Information provided

Information used

Reproductive outcome altered Completed

(iii) Therapeutic

Avoided therapy

Altered existing therapy

New therapy

(iv) Prognostic

General information

Clarified information

Precise information

(v) Investigative

Avoided simple investigation

Avoided complex investigation

Avoided invasive investigation

(vi) Psychosocial

Certainty/self

Belonging/support

Empowerment

(vii) Discovery

Clarified

Changed

New treatment developed

To be defined/added

  1. Types and extent of impact with example measures