Supporting blood cancer patients through whole genome sequencing

As Chair of the APPG on Blood Cancer, I was delighted that NHS England established a Genomic Medicine Service last year. People diagnosed with blood cancer will be amongst the first to benefit from this ground-breaking and innovative service.  

One’s genome is your body’s instruction manual and there is a copy of it in almost every healthy cell in your body. The study of that genome and all the technologies needed to analyse and interpret it is called genomics.

NHS England is the first healthcare system in the world to offer Whole Genome Sequencing (WGS) as part of routine patient care. The decision to offer it to all recently diagnosed patients with Acute Myeloid Leukaemia (AML), Acute Lymphoblastic Leukaemia (ALL), all children with cancer (of which blood cancer is the most common type) and adults with sarcoma, follows the great success of the 100,000 Genomes Project and recognises that the research already shows there is a strong genetic link with these cancers.

In 2012 then Prime Minister David Cameron announced the 100,000 Genomes Project. It ended in 2018 with the final, 100,000th, genome being sequenced. The project was focussed around creating a research resource and the data continues to be analysed to discover causes, diagnosis and treatment options for cancers and rare diseases. 

Genomics England have calculated that through the 100,000 Genomes Project they have been able, for around 50% of cancer cases, to use a different therapy or help someone access a clinical trial. This highlights that although it was primarily set up as a research project there have been major direct patient benefits.

It is important to note that whole genome sequencing is not the first time that cancer patients will receive a genomic aspect to their care. Currently, anyone diagnosed with blood cancer will undergo a series of genomic tests to establish disease type, how far advanced the disease is and potential treatment options. Whole genome sequencing will however, be more accurate and look at more genomes to provide a larger picture of a patient’s health.

Potential benefits for people who undergo whole genome sequencing are huge and exciting. The personalisation that patients could receive to their care would be incredible. While we are not yet at the stage of tailor-making treatments based on someone’s genetic makeup there are options to change to more effective treatments and it would indicate whether someone would be suitable for clinical trials. People with blood cancer have the potential to be diagnosed more accurately and quickly, this is important because delays in diagnosis is a major problem for people with blood cancer. Whole genome sequencing would also offer major benefits for the research community, enriching data gathered from the 100,000 Genome Project ultimately benefitting all cancers and rare diseases.

While there are a multitude of benefits for people with blood cancer now and in the future as a result of whole genome sequencing, there are still some unanswered questions around the practicalities of the service. Questions around how and when the service will sequence its first patient, ethical questions about the data doctors receive from the results and how and whether this is shared with patients are still to be resolved.

It is because of these unanswered questions and the amazing possibilities this service offers that the APPG on Blood Cancer, with the support of Bloodwise, have launched an inquiry looking into genomic medicine in blood cancer. We will investigate the promises and challenges and what needs to happen in order to ensure maximum benefits are realised to those affected.

The Group is currently accepting written evidence until the end of the year before we begin a series of oral evidence sessions next Spring.

Henry Smith MP