February 23, 2021

Genomics-based clinical advances

By Cytiva

The international team working on the Human Genome Project completed the mapping of the human genome in 2003. During the 13 years following the project’s inception, the science of genomics had advanced to the point where the project could be completed two years ahead of schedule, and under budget. Since then, the pace of genomics discovery and application has accelerated exponentially. Yesterday’s laboratory research is making a real difference in patients’ lives today. Here are just three examples of how genomics-based testing is improving patient care and outcomes.

Liquid biopsy eases lung cancer testing for patients

Molecular diagnostics is making a difference to patients. Thanks to advances in genomics research, a simple blood sample can in some cases replace an invasive tissue biopsy.

A tissue biopsy can be painful, and recovery difficult. But now, thanks to advances in genomics research, only a blood sample is needed in some cases.

Although tissue biopsies are routine, they aren’t without risk. A lung tissue biopsy, for example, is a delicate and potentially life-threatening operation. Potential complications, which require considerable post-op care and a long recovery period, can include a punctured lung, coughing up blood, chest pain, shortness of breath — even panic attacks.

Liquid biopsy, by comparison, requires only a blood sample. Though minimally invasive, liquid biopsy can provide detailed information about the tumor cells and indicate possible therapeutic pathways.

See how liquid biopsy is already helping patients with non-small-cell lung cancer, and learn about additional applications in the pipeline.


Companion diagnostics bring precision to cancer treatment

Advances in genomics are flowing from the lab to clinical applications and transforming cancer treatment. The identification of specific genomic biomarkers for cancer types has not only deepened our understanding of disease mechanisms, but also enabled precise, individualized targeting of cancer treatments.

Companion diagnostics are developed alongside targeted cancer treatments, and utilize the same biomarkers. While a targeted cancer therapeutic takes advantage of a specific biomarker to deliver treatment to cancer cells, the companion diagnostic will use the same biomarker to identify patients who can benefit from the treatment.


Alzheimer’s disease research: the race is on

With increasingly aging populations, researchers are racing to develop a deeper understanding of Alzheimer’s disease that can lead to accurate diagnostics, better treatments, and possibly a cure.

As the brain is made up of an array of cell types, being able to look at the cellular level is especially important when trying to tackle a disease as complex as Alzheimer’s. Single-cell sequencing and transcriptomics are key

Single-cell transcriptomics uses single-cell RNA sequencing (scRNA-seq) to sequence the transcribed RNA within thousands of individual cells. The RNA provides a map to the cellular DNA, which can be explored to reveal mutations that may lead to Alzheimer’s disease.

Within these molecular changes could lie new biomarkers to both help detect the disease earlier, and design and target potential new treatments.