From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review

Abstract

Introduction: The scope and need for genomic testing have rapidly expanded with advances in genomic technologies since mapping of the Human Genome Sequence under the largest biological initiative, the Human Genome Project. There are now more than 7000 rare genetic disorders and more are being discovered every day. No body system is exempt from a genetic aberration. It is therefore imperative and inevitable for the clinicians to be aware of the plethora of available genetic testing modalities for different types of disorders. The modern clinician is now responsible to inform and assist the patient and the family with the choice of the most relevant genetic testing. This is crucial since genetic testing involves a fair degree of time and money. The present review sheds light on the utility and limitations of different genetic testing modalities using a series of clinical examples. Conclusion: Proper clinical evaluation and selection of an appropriate test are of paramount importance in clinical genetic practice. The clinician, patient, and the family need to be cognizant of the fact that despite extensive testing, the diagnosis may still remain undetermined.

Keywords

• chromosomal microarray
• variant of uncertain significance
• whole exome sequencing