Precise diagnosis is the procedure of uncovering the exact molecular cause of a certain condition. By uncovering the exact molecular cause of a condition we can find:
- The best treatment option
- A clear plan for future management of the condition
- Risk evaluation of the patient’s relatives
THE BEST TREATMENT OPTION
This usually means finding a tailored made treatment option which targets the root molecular cause of the condition. In laments terms we are targeting the cause and not just the symptoms.
A CLEAR PLAN FOR FUTURE MANAGEMENT OF THE CONDITION
After establishing a precise a diagnosis it is much easier to view and predict the possible future outcomes and evolution of the condition and better manage it in the future.
RISK EVALUATION OF THE PATIENT’S RELATIVES
By determining the exact gene that is affected we can safely determine whether or not the condition can be passed on. If the condition can be passed on then there are certain preventative therapeutic and diagnostic measures which can alter/postpone the conditions manifestation.
Precise diagnosis is especially beneficial to young children, due to the fact that it can help in uncovering the exact cause of the condition and allow us to treat it precisely at an early stage. By determining the exact cause of a disease in its earliest state, precise and targeted therapeutic measures can be taken. The time needed for finding effective treatment options is reduced.
Precise diagnosis is beneficial for complex condition which can go under multiple diagnoses. Precise diagnosis is therefore also financially beneficial, due to the simple fact that excess diagnostic procedures are avoided.
For which diseases is precise diagnosis available?
Due to the rapid advances in these fields, precise diagnosis is currently available for all complex and not clearly diagnosed conditions and diseases. When taking into consideration the genetic tests that are available, the most common condition which need precise diagnosis are: epilepsy and other neurological conditions, cardiovascular diseases, kidney diseases, lung diseases, hepatic diseases, immunological disorders, different types of cancer, infertility, metabolic issues, intellectual disorders, problems with sight and hearing and so on.
What are the necessary steps needed in order to establish a precise diagnosis?