Post-Genomic Era: Critical Role of Genetic Counseling in a Pediatric Clinic
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Establishing a confirmed diagnosis of pediatric-onset genetic conditions has undergone a paradigm shift in the post-genomic era. Consequently, the practice of genetic counseling has also transformed. Clinical and genetic heterogeneities (in monogenic and complex diseases) and variants of uncertain significance (VUS) pose challenges across clinical disciplines. We thus retrospectively analyzed 38 subjects with pediatric-onset conditions who underwent clinical examination, genetic counseling, and testing. The subjects were categorized based on their clinical presentations and genomic screening results (ophthalmic, neurodevelopmental disorders [NDDs], and other pediatric conditions outside the two subspecialties). Among the ophthalmic subjects, 84.6% had confirmed pathogenic/likely pathogenic (P/LP) variants, 7.7% had combinations of P/LP variants and VUS, and 7.7% had no significant molecular genetic variants. In the NDDs group, 44.4% had confirmed P/LP variants, 11.2% had combinations of P/LP variants and VUS, and 44.4% had either only VUSs or uninformative results. In the remaining subjects, 43% carried confirmed (P/LP) variants, 28.5% had a combination of P/LP and VUS, and 28.5% were inconclusive. We discuss the implications of these findings with the subject families and how pre- and post-test genetic counseling aided their informed decision-making. Clinical and genetic heterogeneities present challenges that clinicians and genetic counselors face, differing between monogenic and complex conditions. Genetic counselors should inform patient families of possible outcomes during pre-test and post-test counseling, as it supports informed decision-making. Although VUSs remain the most significant genetic counseling challenge in all three groups, post-genomic era high-throughput technologies have greatly enhanced healthcare delivery.
