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Table 1 The power of a diagnosis

From: The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

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.
  1. adrug repurposing: using a given drug for a new indication (disease)