Neil Ward , Vice President and General Manager of PacBio EMEA

Recent advances in genomic sequencing technologies are fuelling breakthroughs in cancer research , monitoring , and treatment . There are two main approaches to genomic sequencing – short- and long-read – each of which bring value to different cancer scenarios .

The most commonly used method of sequencing to date has been shortread , which involves breaking the genome into small fragments ( 50 – 300 base pairs ). Short-read data is useful for tracking residual disease , ongoing cancer screening , and in some cases early detection of cancer .

Recent improvements in the sensitivity and specificity of shortreads have further opened doors for use cases such as liquid biopsies . Unlike tissue biopsies , liquid biopsies are non-invasive and do

This month ’ s question aligns with World Cancer Day – an international day marked on 4 February to encourage the prevention , detection and treatment of cancer , whilst also raising awareness . We hear from three experts from the National Physical Laboratory , PacBio and Hologic on how advancements in digital health technologies are contributing to cancer care , including its prevention , monitoring and post-treatment support .

not require sedation . Identifying circulating tumour DNA in the blood is challenging , due to it being present in very low concentrations . But highly accurate short-read sequencing by binding ( SBB ) techniques have doubled the sensitivity of these tests to detect cancer at earlier stages .

In contrast , long-reads sequence DNA segments that are kilobases long . This means a long-read spans complex areas of the genome like large structural variants and tandem repeats . The accuracy and completeness of long-reads affords researchers a deeper understanding of individual cancers , supporting a precision oncology approach .

Previously , widespread use of longreads was hampered by cost and low throughput . Now , new sequencers have unlocked the possibility of a US $ 1,000 genome with a 24-hour turnaround time for patients . We ’ ve already seen the benefits of such innovation and the ability to scale research in breast cancer ; one study that employed long-read data revealed 3,059 breast tumour-specific splicing events , including 35 that are significantly associated with patient survival .

Finally , modern sequencing technology , both short- and long-read , is now backed by sophisticated AI and deep learning techniques . This allows researchers to conduct deeper analyses of large datasets , unlocking insights into the pathology of cancer and its progression at a molecular level .

In short , innovation in genomic sequencing is unlocking a new era of cancer monitoring and care . Highly accurate sequencing technology is helping researchers to explore variations in the genome that were not previously detected , edging us closer to the goal of diagnosing cancer at the earliest possible stage and informing precision oncology treatment decisions .

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