Table 1 The power of a diagnosis
Benefits | Comments |
|---|---|
Certainty | The power of knowing the cause of the condition at the end of the diagnostic odyssey, including improved prognostication. |
Reduced Isolation | Offering the possibility of connection for shared experience. |
Reduce unnecessary investigations | No further need for investigations which may be invasive, time-consuming and/or costly. |
Access to improved or best practice medical care, including reducing inappropriate management | Targeted follow-up and surveillance by what is known from the diagnosed condition and biologically related disorders. Possibility of drug repurposinga. |
Clarify recurrence risk | To increase certainty and restore reproductive confidence. |
Provide additional reproductive options | A molecularly confirmed genetic diagnosis provides options for prenatal or pre-implantation genetic diagnosis. |
Access to social and educational services | Available for selected other rare disorders. |