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Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

Elena Morini1, Federica Sangiuolo2, Daniela Caporossi3

  • 1Department of Movement, Human and Health Sciences, University of Rome Foro Italico Rome, Italy ; Department of Biomedicine and Prevention, University of RomeTor Vergata Rome, Italy.

Frontiers in Genetics
|March 19, 2015
PubMed

Insights

Sudden cardiac death (SCD) is a major health issue. Next-Generation Sequencing (NGS) helps identify genetic risks for SCD in young athletes, enabling early prevention strategies.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Forensic Pathology

Background:

  • Sudden cardiac death (SCD) is a significant public health concern, causing over 300,000 deaths annually in the US.
  • SCD accounts for 20% of total mortality and 50% of cardiovascular mortality in Western countries.
  • Determining the exact cause of SCD, especially in young individuals, remains a challenge in forensic pathology.

Purpose of the Study:

  • To review the advancements in Next-Generation Sequencing (NGS) technologies for investigating the genetic basis of SCD.
  • To provide guidelines for designing efficient sequencing protocols and performing accurate data analysis for genetic screening.
  • To propose a flowchart for genetic screening protocols aimed at preventing cardiac pathologies, particularly SCD, in young athletes.

Main Methods:

  • Review of Next-Generation Sequencing (NGS) technologies and their application in genetic research.
  • Analysis of existing guidelines for genetic testing and data interpretation in cardiovascular diseases.
  • Development of a proposed flowchart for genetic screening protocol design.

Main Results:

  • NGS technologies offer powerful tools for deep investigation into the genetic underpinnings of fatal cardiac diseases.
  • Genetic testing is crucial for identifying pre-symptomatic individuals with genetic variants predisposing them to SCD.
  • The review highlights the importance of efficient protocols and accurate data analysis for effective genetic screening.

Conclusions:

  • NGS has revolutionized the ability to identify genetic predispositions to SCD.
  • Implementing robust genetic screening protocols, especially for young athletes, can aid in the prevention of SCD.
  • Further research and standardized protocols are essential for optimizing the use of genetic testing in SCD prevention.

Keywords:
Next-Generation Sequencingcardiomyopathieschannelopathiespersonalized medicinesudden cardiac death

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