?Is Biochemistry Still Relevant in The Post Genomics Era in Newborn Screening

Abstract

Abstract

Background: Biochemistry and genetic testing are two different techniques which can be used to diagnose certain diseases by providing the genotype and phenotype of a patient. However, choosing the best technique or a combination of the two relies mainly on the genotype-phenotype correlation. Genotype-phenotype correlation describes how well a genetic variation corresponds to a certain disease. Genetic testing can determine the genotype using different genetic techniques including next-generation sequencing. The advent of Next-generation sequencing (NGS) has allowed for rapid and cost-effective genetic testing, but is there still a role for biochemistry?

Aims: To carry out an extensive literature review about genetic and biochemical testing in diagnosing, screening, and monitoring of 3 diseases that can be encountered in the neonatal period and examine the importance and role of biochemistry in cystic fibrosis, phenylketonuria, and medium-chain acyl-CoA dehydrogenase deficiency.

Methods: A wide literature review using different keywords to access relevant articles published from 2010 to 2020.

Results: A wide range of research articles were viewed, evaluated, and compared with each other and the outcome was that biochemistry and genetic testing are both equally important in diagnosing different disorders.

Conclusion: Although genetic testing is expanding and is being used more frequently worldwide, it has some limitations that makes biochemistry critical for the diagnosis and monitoring different diseases which might not be achievable by genetics at present. One of the major limitations includes the poor correlation between the genotype and phenotype of some disorders and the unavailability of genetic testing in monitoring. Nevertheless, when both are combined, they can provide better results.