NHS whole-gene screening helps tailor cancer care

nhs-whole-gene-screening-helps-tailor-cancer-care
NHS whole-gene screening helps tailor cancer care

Tailored care for cancer patients can be achieved through analyzing their entire genetic code, according to experts who conducted the largest study of its kind with 13,000 cancer patients in England. By combining clinical data and DNA evidence, treatments can be personalized for each individual. In some cases, patients were given different drugs or avoided ones that were likely to cause side effects. Most brain tumors had genetic underpinnings that affected treatment decisions.

Through whole-genome sequencing, an individual’s entire genetic code – all 3.2 billion letters that make up their DNA – can be analyzed. This includes the baseline “healthy” genome inherited from both parents, extracted through a blood test, and the corrupted genome, taken via a biopsy, which is made up of both healthy and mutated DNA. The first genome can disclose genetic variations that can make individuals more susceptible to cancer, such as the BRCA1 mutation, which increases the risk of breast and ovarian cancer, while the second genome provides information on which genes are aiding cancer’s spread and whether the patient is likely to suffer adverse side effects from certain drugs.

In the study, which was published in Nature Medicine, more than 90% of brain tumors and most bowel and lung cancers exhibited genetic changes that could inform decisions about surgery or specific treatments. In over 10% of sarcomas – solid cancers in the bone and muscle – genetic changes conveyed various sub-types of the cancer, leading doctors to select more appropriate treatments. Also, over 10% of ovarian cancers were likely inherited, suggesting potential testing for family members.

The study, completed in 2018 and led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust, and the University of Westminster, analyzed data on over 30 types of solid tumors. It represents “an important milestone in genomic medicine,” says Dr. Nirupa Murugaesu, demonstrating that cancer genomics can be integrated into mainstream cancer care across health systems. The study’s collection of long-term clinical data, alongside genomic data, has created a novel resource for clinicians to make better predictions and personalize treatments, said Dr. Murugaesu.

Clinicians have already incorporated the study results into clinical care, with at least one trust in the East Midlands taking action in around one in every four of the cases to put patients in clinical trials or ensure they avoided medicines that could cause adverse side effects. The 100,000 Genomes Project, which paved the way for delivering whole-genome sequencing in cancer, has opened up opportunities for precision oncology, says Genomics England scientific director for cancer Dr. Alona Sosinsky

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