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Related Concept Videos

Human Genetics01:28

Human Genetics

635
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
635

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Ordering genetic testing by neurologists: points to consider.

Avi Fellner1, Yael Goldberg2,3, Lina Basel-Salmon2,3,4

  • 1The Neurogenetics Clinic, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. avi.fellner@gmail.com.

Journal of Neurology
|May 8, 2023
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Summary
This summary is machine-generated.

Genomic medicine use is limited by access to genetics specialists. This review guides non-geneticist physicians in ordering genetic tests for neurological diseases and interpreting results.

Keywords:
Exome sequencingGene panelGenetic testingGenome sequencingNeurogeneticsVariant of uncertain significance

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Area of Science:

  • Neurology
  • Genomic Medicine
  • Clinical Genetics

Background:

  • Genomic medicine offers powerful diagnostic tools, but its full potential is hindered by limited access to genetics specialists.
  • Neurologists frequently encounter patients who could benefit from genetic testing, yet often lack the specialized knowledge for optimal test selection and result interpretation.

Purpose of the Study:

  • To provide a practical, step-by-step guide for non-geneticist physicians.
  • To facilitate informed decision-making regarding diagnostic genetic testing for monogenic neurological disorders.
  • To assist clinicians in managing and interpreting genetic test results.

Main Methods:

  • This study is a review article.
  • It synthesizes current guidelines and expert knowledge on genetic testing in neurology.
  • The review outlines a decision-making framework for physicians.

Main Results:

  • A structured approach to selecting appropriate genetic tests for monogenic neurological diseases is presented.
  • Guidance is offered on the interpretation of genetic testing outcomes.
  • The review aims to bridge the knowledge gap for non-specialist physicians.

Conclusions:

  • Empowering non-geneticist physicians with knowledge on genetic testing can enhance the utilization of genomic medicine in neurology.
  • Improved understanding will lead to more accurate diagnoses and better patient management for neurological conditions.
  • This guide serves as a valuable resource for clinicians managing patients with suspected monogenic neurological disorders.