New Genome-Sequencing Approach to Heart Disease Risk Assessment

Established Northern California health solutions leader, Neda Razavi oversees product marketing of automated end-to-end sequencing systems at Roche Diagnostics. From product management to defining global marketing commercialization strategy, Neda Razavi possesses in-depth knowledge of personalized medicine, relying on genome information to provide individualized treatments for patients with complex conditions.

DNA and RNA sequencing data can help scientists identify specific genes using diseases that are a potent tool compared to assessing symptoms alone. Genome sequencing offered additional specificity and increased specificity compared to traditional diagnostics techniques such as CT-scan, MRI, or Immunoassays. Genome sequencing provided patients and healthcare providers with detailed information to find possible changes in genes that cause inherited diseases such as heart disease. Many grants and new funding initiated to address main human diseases such as heart diseases. NIH genome sequencing program targets the genomic bases of common, rare diseases such as heart disease, diabetes, stroke, and autism.

A significant new trial in this field is underway at Genomics, operating out of Oxford University in England since 2014. In early April 2021, the company announced the launch of the trial focused on the analysis of blood samples, with genome sequencing used to assess heart disease risks. The UK government-sponsored NHS pilot project involves 1,000 volunteers.

A similar program, scaled up to 5,000 patients and recruiting those between 40 and 60 years old, is set to run soon in California at Stanford Hospitals. Participants donate a blood sample analyzed by Genomics for genetic patterns, utilizing an algorithm-aided technology platform.

Even in cases where no current symptoms exist, some of the patterns identified are associated with elevated heart attack risk later in life. The personal polygenic risk score generated will be used in tandem with current clinical risk-prediction tools, which rely on factors such as cholesterol levels and body mass index, to identify cardiovascular risk.

Genetic variants testing is gaining momentum in cardiovascular disease, and it is helping improve diagnosis and precision treatment. Researcher race to understanding the impact of genetic variation on the diseases will greatly contribute to our abilities to examine the effect of drugs on a selected group of patients with a similar gene variant composition. Although it will take time for newly discovered mutations associated with heart disease to become part of the clinical testing regimen, improved sequencing techniques, and reduced cost of sequencing will greatly contribute to the increased discovery of genetic variants and adaption of the diagnosis in clinical sequencing.

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