MOLECULAR DIAGNOSIS OF GENETIC DISEASES IN THE ERA OF GENOMIC MEDICINE: TECHNICAL CHALLENGES, GENETIC COUNSELING, AND THE (DE)VALUATION OF THE MEDICAL PROFESSIONAL IN THE CONTEMPORARY BRAZILIAN CONTEXT

Resumen

Over the past two decades, Genomic Medicine has become one of the most transformative pillars of contemporary clinical practice, redefining diagnostic, therapeutic, and preventive paradigms for diseases of genetic origin. This article aims to discuss, in light of current scientific literature, the molecular diagnostic protocols and techniques used to characterize genetic diseases, with emphasis on contemporary molecular biology methods applied to carrier detection, prenatal diagnosis, and genetic counseling. This is a qualitative narrative literature review based on Brazilian and international scientific publications, most of which were published during the past decade. The findings show that, despite major technological advances, such as next-generation sequencing, chromosomal microarrays, and digital PCR platforms, the effectiveness of Genomic Medicine in Brazil remains contingent upon structural, economic, and, above all, human factors. Particularly noteworthy is the growing devaluation of medical professionals, especially medical geneticists, whose work is indispensable to translating molecular knowledge into high-quality clinical care. It is concluded that the full integration of genomics into Brazilian public health depends not only on technological improvement but also on effective policies for the recognition, continuing education, and retention of specialized medical professionals. Without such policies, inequities in access to genetic diagnosis and counseling may widen.