Luigi Donato

Implementing clinical practice guidelines, based on a systematic review of clinical evidence, is fundamental to sustain the decision-making procedures in patient care. Development of guidelines is needed for genetic tests regarding human genome/genes including cytogenetic tests, biochemical genetic tests and molecular genetic tests. Main aspects that should be considered when implementing guidelines for genetic testing regards 1) Usefulness of genetic test in patients who have already developed a disease; 2) Genetic testing for prenatal diagnosis, non-progressive carrier diagnosis and pre-symptomatic diagnosis; 3) Genetic testing for a minor or a person lacking the ability to make his/her autonomous decision; 4) Pharmacogenetic tests; 5) Genetic tests for multifactorial diseases. Since genetic tests of different diseases and disease-subgroups have been carried out in a wide range of medical fields, it is recommended that each national and international medical societies draw up and follow guidelines for each disease to obtain unique and universal diagnosis.

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