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A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting

Alan Taylor1, Zeinab Alloub2, Ahmad Abou Tayoun1,3

  • 1Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.

Genes
|June 2, 2021
PubMed

Insights

This review guides healthcare providers in selecting optimal genetic testing strategies. It aims to improve diagnostic accuracy and reduce healthcare costs by ensuring appropriate test utilization.

Area of Science:

  • Genetics
  • Medical Diagnostics

Background:

  • Limited access to genetic specialists globally impacts healthcare providers' ability to order appropriate genetic tests.
  • The increasing use of genetic testing across medical specialties necessitates better provider education.

Purpose of the Study:

  • To educate healthcare providers on basic genetic testing concepts and proper utilization.
  • To guide the selection of the most appropriate, fastest, and cost-effective genetic tests for various clinical scenarios.

Main Methods:

  • Review of various genetic testing strategies and their application in different clinical contexts.
  • Analysis of test characteristics including variation identification, turnaround time, and diagnostic yield.
  • Discussion of practical considerations like cost, insurance, and variant interpretation.

Main Results:

  • Provides a framework for matching genetic tests to clinical indications.
  • Highlights the importance of considering test cost, turnaround time, and diagnostic yield.
  • Addresses challenges in interpreting variants of uncertain significance.

Conclusions:

  • Empowering healthcare providers with knowledge on genetic testing improves patient diagnosis.
  • Appropriate genetic test selection can reduce healthcare system financial burden through elimination of redundant testing.

Keywords:
diagnosticsgenetic testingmicroarraynext generation sequencingpediatricsprecision medicinewhole exome sequencingwhole genome sequencing

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