Peer-reviewed article
Genetic Counseling
Ana Beatriz Alvarez Pérez, Mirlene Cecília Soares Pinho Cernach, Michele Patricia Migliavacca ·
Summary
Written by AI, not yet AICS's view · claude-sonnet-5-5This review gives a short history of genetic counseling and describes how it is practised today. It explains that a diagnosis depends on family history, assessment of the pregnancy and a careful physical examination, including dysmorphology (the study of unusual physical features) from the newborn period onward. It describes how newer sequencing tools find more diagnoses than older tests, particularly in complex cases. It also says that after a diagnosis, counseling covers interpreting results, recurrence risk, family screening and reproductive planning. Treatment now includes precision approaches such as gene editing, cell therapies and targeted drugs, and care needs teamwork across specialists.
Key points
- Genetic counseling is a multidisciplinary process that turns hereditary and genomic findings into clinical care.
- A diagnosis requires detailed family history, gestational assessment and a meticulous physical examination, with dysmorphology analysis important from the neonatal period.
- Karyotype, chromosomal microarray analysis and Sanger sequencing remain clinically relevant.
- Next-generation sequencing (whole-exome, whole-genome, optical genome mapping) has greatly improved diagnostic yield in complex or atypical cases.
- Treatment now goes beyond supportive care to include gene editing, cell therapies and targeted drugs, and requires close integration of geneticists, pediatricians, subspecialists and allied health professionals.
Limitations
This is a narrative review abstract, so it does not evaluate a specific intervention or give data on outcomes for children. It names no country in the abstract, so it cannot tell us about access to genetic services in Brazil or elsewhere.
Abstract
Abstract Purpose of Review This review aims to provide a brief historical overview of genetic counseling and its evolution, addressing the qualified professionals and clinical requirements necessary to obtain a diagnosis and post-test guidance across different stages of patients' lives. Recent Findings Recent advances in the understanding of genetic diseases and contemporary diagnostic tools offer a novel approach to evaluating conditions both prenatally and in pediatric patients, facilitating precise diagnoses and tailored clinical interventions, including modern treatment regimens. Summary Genetic counseling is a dynamic, multidisciplinary medical process that translates the complexities of hereditary and genomic conditions into actionable clinical care. Historically rooted in pediatric dysmorphology and conventional cytogenetics, the field has evolved into an essential specialty spanning multiple organ systems and life stages. A definitive diagnostic pathway requires detailed family history, gestational assessment, and meticulous physical examination—with dysmorphology analysis serving a pivotal role from the neonatal period onward. While conventional tools such as karyotype, chromosomal microarray analysis, and Sanger sequencing remain clinically relevant, next-generation sequencing technologies—including whole-exome sequencing, whole-genome sequencing, and optical genome mapping—have dramatically improved diagnostic yield, particularly in complex or atypical phenotypes. Following molecular confirmation, genetic counseling guides the interpretation of findings, recurrence risk assessment, family screening, and reproductive planning. Importantly, therapeutic paradigms have advanced beyond supportive and symptomatic care to encompass precision medicine, such as gene editing, cell therapies, and targeted pharmacological agents. Comprehensive care demands close integration among geneticists, pediatricians, subspecialists, and allied health professionals to provide long-term clinical management, surveillance, and psychosocial support.