THE MEDICAL AND EPIDEMIOLOGICAL SIGNIFICANCE OF THE RELEVANCE AND NECESSITY OF CLINICAL LABORATORY DIAGNOSTICS OF HEREDITARY GENETIC DISEASES

Abstrak

In addition to reducing the need for more intrusive and costly testing, early detection of a rare disease can also lessen the psychological toll that living with an unidentified illness takes on patients and their families.  Finding the underlying genetic problem may also be a useful screening method that makes it possible to find carriers, asymptomatic people, and symptomatic people.  Both benign and malignant illness secondary prevention greatly benefits from this. For hereditary genetic illnesses, clinical laboratory diagnostics are essential because of their medical and epidemiological importance in facilitating early diagnosis, treatment, and detection, which enhances patient outcomes and guides public health initiatives [1,2].  In the medical field, diagnostics advise preventative measures for patients and their families, confirm or rule out a diagnosis, enable individualized treatment regimens, and forecast future risks for diseases like cancer and heart disease.  In terms of epidemiology, this testing makes it possible to identify people that are at risk, monitor the occurrence of diseases, and carry out focused public health initiatives. The main purpose of the presented manuscript is to analyze, on the basis of authoritative scientific literature, the medical and epidemiological significance of the relevance and necessity of clinical laboratory diagnostics of hereditary genetic diseases [3,4].