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The annual Festival of Genomics and Biodata recently showcased the remarkable potential of genomics in cancer care. In this blog post, we explore two pivotal factors reshaping the landscape of cancer care: identifying inherited mutations within tumours and the importance of equitable access to genomic testing.

Understanding Germline Mutations:

Tumour profiling through genomic sequencing provides valuable insights into the genetic makeup of tumours, aiding in identifying specific mutations driving cancer and enabling personalised treatment options.

Differentiating between inherited and acquired mutations is crucial. As such, in her keynote speech, Professor Clare Turnbull emphasised the significance of discerning the origin of mutations in patient care decisions. Germline mutations, inherited from family members and present in every body cell, play a critical role in hereditary cancer.

Cancer is a disease caused by genetic mutations or cell abnormalities within the body. Specifically, gene mutations that regulate cell growth or death can lead to cancerous growth. Genetic mutations that lead to cancer can be acquired during a person's lifetime or inherited from family members. The inherited mutations are called germline mutations and are present in every body cell.

Cancer caused by germline mutations is known as hereditary cancer, and approximately 5-10% of all cancer diagnoses are caused by germline mutations in cancer predisposition genes. Identifying these mutations is critical for cancer prevention, early detection, and treatment. For instance, women with an inherited mutation in the BRCA1 or BRCA2 gene have a significantly higher risk of developing breast and ovarian cancer.

Follow-up Testing:

The need for follow-up testing to determine whether tumour mutations are germline mutations is stressed by Professor Turnbull and the ESMO Precision Medicine Working Group. This testing helps confirm if the mutations are present in all cells of the patient's body since birth and influence further treatment decisions.

Equal access to this type of testing is essential as it “can help diagnose the disease more accurately, determine the best treatment or even predict the risk of developing cancer or seeing it return”. Elaborating on this topic, Professor Hubank (a leading authority in Clinical Genomics) stated in his speech “If we’re going to deliver the benefit of genomics to cancer patients, it has to be all cancer patients… not just a few ‘elite’ hospitals”.

However, ensuring equitable access to genomic testing is a significant challenge.

Equal Access to Genomic Testing:

Professor Hubank explained that in addition to equal access, there should also be a focus on integrating genomic education into medical training, enabling healthcare professionals to provide informed care.

The National Genomic Test Directory, a part of the NHS Genomic Medicine Service (GMS) framework, is critical in providing consistent and equitable access to genomic testing. This comprehensive directory lists genomic tests commissioned for the NHS in England.

Collaboration for Advancement:

Overcoming barriers to access and advancing genomic testing requires collaboration among researchers, clinicians, policymakers, and healthcare systems. By harnessing the power of genomics, we have the potential to revolutionise cancer care, offering personal and targeted treatments that significantly improve patient outcomes and transform lives.

Continued advancements in understanding the human genome's role in disease offer immense potential for genome sequencing to drive drug discovery and therapeutic development. Stay tuned for future blogs where we explore further intriguing updates in this field. In the meantime, contact one of our experts to learn more about genome sequencing and our work at Genefirst.