Study Uses DNA Sequencing To Explain Sudden Death

By Christine Kern, contributing writer

Scripps Translational Science Institute is teaming with the San Diego County Medical Examiner to use gene sequencing to determine sudden, unexplained deaths.

Researchers at the Scripps Translational Science Institute (STSI) have teamed up with the San Diego County Medical Examiner’s office to conduct a clinical trial using gene sequencing to determine causes for sudden unexplained deaths. The team will sequence the genomes of adults, children, and infants in the region whose death cannot be explained using traditional medical investigative methods, according to a press release. San Diego County reports a dozen or more cases of unexplained deaths yearly.

The goal of the study is to identify genes associated with sudden death and previously unrecognized genetic mechanisms for the cases. The findings will be used to develop preventative screening programs and interventions for relatives of study participants and others.

“If genetic sequencing and careful analysis of DNA data can help establish a cause in some of these cases, that could answer important questions for surviving family members and provide a sense of closure from a painful loss,” San Diego County Chief Deputy Medical Examiner Jonathan Lucas, M.D. said in the release.

While large-scale DNA sequencing is increasingly being used in medicine to identify diseases and guide therapies for patients, it has yet to be utilized in any real sense by medical examiners to identify cause of death. The Molecular Autopsy Study has the potential to introduce a new paradigm in the field.

“Using state-of-the-art DNA sequencing and powerful analytics tools we can, for the first time, determine the root cause of sudden unexpected death in many families,” said STSI Director Eric Topol, MD, who also is chief academic officer of Scripps Health. “This may turn out to be important not only for family members to know if they are at risk and need to take preventive steps, but also for the public to avoid such catastrophes in young people.”

Lucas added, “If genetic sequencing and careful analysis of DNA data can help establish a cause in some of these cases, that could answer important questions for surviving family members and provide a sense of closure from a painful loss.”

“In individuals with early unexplained sudden death, genome sequencing has the ability to uncover rare conditions with difficult-to-detect symptoms that are invisible to standard physical autopsy,” said Ali Torkamani, director of genomic informatics and drug discovery at STSI. “We hope that if a rare life-threatening genetic condition is detected, life-saving interventions may be indicated in living relatives.”

“This is a great opportunity for the County to work with cutting-edge researchers to solve this mystery, and we’re happy to be part of a study that could make a real difference in people’s lives,” said Dianne Jacob, chairwoman of the San Diego County Board of Supervisors.

For more information about the Molecular Autopsy Study, visit clinicaltrials.gov.