Rational approach to modern genetic diagnostics

Authors

  • Sanda Huljev Frković KBC Zagreb, Klinika za pedijatriju, Zavod za genetiku i bolesti metabolizma; Medicinski fakultet Sveučilišta u Zagrebu

DOI:

https://doi.org/10.13112/pc.1045

Keywords:

GENETICS, GENETIC TESTING, HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING, PRECISION MEDICINE, GENETIC COUNSELING

Abstract

Thanks to the accelerated advancement of technologies, increased knowledge, and falling prices, the potential of genetic testing has never been greater. The expansion of knowledge and possibilities has dramatically altered our diagnostic methods, including who we test, when we test, the methods used, and how we interpret the obtained results. This influences the criteria for conducting tests, the selection of diagnostic testing methods, and the potential for evaluating genetic risk factors for common complex conditions, ultimately resulting in tailored care for each individual patient. New methods have become the preferred approach for diagnosing genetic conditions, yet it's essential to remember that traditional techniques remain a highly effective option when used appropriately. The geneticist plays a vital role in the diagnostic process, from formulating a working diagnosis based on the patient's medical history, current condition, disease progression, and previous treatment outcomes, to recommending appropriate genetic testing, understanding its benefits and drawbacks, and accurately interpreting relevant findings that impact the patient's and their family's future.

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Published

2025-04-02

How to Cite

Huljev Frković, S. (2025). Rational approach to modern genetic diagnostics. Paediatria Croatica, 69(Suppl 2), 15-20. https://doi.org/10.13112/pc.1045

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