Cancer

Study Reveals Whole-Genome Sequencing Can Improve Childhood Cancer Outcomes 

According to a pilot study performed by doctors in Cambridge, reading the full genetic code of childhood cancers can help doctors improve an overall diagnosis. The code can also help doctors learn about how tumors grow and how to find the most effective treatment therapies for specific tumors. 

In the study the doctors used whole-genome sequencing on 36 children with cancer. They found that the extra information they were provided changed four of the patients’ diagnoses and revealed new treatment options in seven cases. 

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Seeing the whole-genome sequence of the cancer’s DNA allows doctors to learn even more about the specific cancers that their patients are dealing with. Clinicians in the study were able to refine two of their previous diagnoses, learn more about the course of the disease in eight of the children, and found potential hereditary reasons for tumors in two of the subjects. 

“Our aim was to illustrate what can be achieved with whole-genome sequencing and to try and advertise its utility. Locally in Cambridge it was never really in question that this would add value,” said Dr Patrick Tarpey, lead scientist for solid cancer in the East Genomic Laboratory Hub based at Cambridge University hospitals NHS foundation trust.

The results are projected to be shared at the National Cancer Research Institute festival. NHS England has already discussed their plans of rolling out whole-genome sequencing for childhood cancers with the goal of making sequencing a normal part of treatment. This will allow doctors to continuously track specific aspects of their patients’ cancer to make adjustments in treatment for the best possible outcome. 

The 36 children involved in the study had 23 different tumor types. All participants endured a standard test to identify their cancer, and test their genome sequencing to see whether or not their current treatment was actually improving the condition or not. 

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According to the study, comparing the genetic makeup of a tumor versus healthy tissue within the same individual can help doctors identify the specific mutations that are driving the cancer, and potentially can reveal the tumor’s weakness. The work itself is no easy task, however, as it can take anywhere from two to three months to successfully and accurately interpret the genome sequence. 

Tarpey said “about three-quarters of the gene variants flagged up in the study came from whole-genome analysis rather than the standard cancer tests the children had. There are cases where the diagnosis was completely uncertain and we’ve been able to confirm it, and in doing so identify the mechanisms that impaired the genes.”

Sheona Scales is a pediatric leader at Cancer Research UK, who said that children with cancer often undergo grueling treatments, and even when they’re over the side-effects can last a lifetime, which is why studies like this are so important. 

“It is vital that we find ways to tailor treatments towards the individual and for this, whole-genome sequencing is a game-changer.” 

“Understanding more about the makeup of a child’s cancer can help doctors make the most informed treatment choices for their patients. The hope is that this will lead to better outcomes for children with cancer, not just in terms of survival, but also in the quality of the rest of their lives,” she explained.