Genetic Testing is gaining importance to identify the cause of a patient’s symptoms or condition and to be able to give accurate medical care. A definite diagnosis can be a great relief to patients and families struggling with an undefined clinical situation as it will give an idea of how the patient’s disease will progress.
Genetic testing if correctly used can achieve a diagnosis faster than traditional testing.
Genetic testing following counselling is particularly recommended in couples with reproductive problems, infants with failure to thrive and developmental delay, neurological conditions, cardiac problems and cancer.
A timely genetic diagnosis before the patient actually develops symptoms may be life-saving. The genetic information in an individual will also allow calculation of the individual’s chance of passing on the defect to their offspring and is useful for family planning. In fact, major life decisions are often based on genetic test results.
Genetic counselling helps patients make informed decisions. Genetic testing is today already an important diagnostic tool and is expected to be the first line of testing in patients in the future.