Blood Health - Q2 2020

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Gemma Peters CEO, Blood Cancer UK “Many callers have been fearful of catching COVID-19” Page 2

Ade Adebisi Professional Rugby Player “This condition contributed to the shortening of my sports career” Page 4

David Gómez-Almaguer M.D. FACP Chair of Council International Society of Hematology “There are several impressive advances in the field of haemophilia treatment” Page 6

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Because it’s time to beat blood cancer

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IN THIS ISSUE

05

Professor Jo Howard Transforming sickle cell disease services to offer fresh hope

06 International Society of Hematology Haemophilia: treatment advances and hope

06

Blood Cancer UK Could CAR-T therapy be used more widely?

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Best practice for people with blood cancer coming out of lockdown The COVID-19 pandemic has affected everyone in the UK, but people with blood cancer have been particularly badly hit.

A

WRITTEN BY:

Gemma Peters Chief Executive of Blood Cancer UK

t the beginning of the COVID-19 crisis, 200,000 cancer patients in England received a letter from the NHS, asking them to shield in their homes as they were most at risk.

Of those 200,000 people, 115,000 are living with blood cancer.

People with blood cancer are facing new challenges There has understandably been a huge amount of anxiety in the blood cancer community. We saw a monumental increase in calls to our support line – more since the start of the pandemic than we would have received in a normal year.

Many callers have been fearful of catching COVID-19, as well as worrying about the implications of changes to their ongoing treatment and the financial impact of being unable to work.

We’ve heard how hard it is to shield in the same household as family members who are still going out to work.

Some of the toughest calls we’ve taken have been from people who have found it impossible to get food deliveries with supermarkets and were running out of food. Many of those who were shielding had no other choice but to go out to the shops. It’s a situation we’ve been campaigning to change.

Many people, particularly those on ‘watch and wait’ and those with myeloproliferative neoplasms, are still unable to get a shielding letter that enables them to receive priority

status for online supermarket shopping and helps them to prove to their employer that they cannot work.

It’s not surprising that a recent survey we undertook of people with blood cancer who were shielding found that over half were struggling with their mental health.

Some of the toughest calls we’ve taken have been from people who have found it impossible to get food deliveries with supermarkets and were running out of food.

What’s next for people with blood cancer?

With some patients’ maintenance and non-urgent treatment postponed, along with a drop in the number of newly diagnosed cases of blood cancer during the lockdown, there will be a longerterm impact on the health system and haematology units will be under additional strain in the coming months.

It is clear that people living with blood cancer will continue to have more restrictions on their daily lives than the general population. For some, this prolonged period of isolation will take an enormous toll.

It is vital we get it right for people with blood cancer – ensuring that they and their families have clear advice, the right financial and psychological support, and access to food deliveries to protect them as the lockdown is eased.

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This article is sponsored by Gilead Sciences who have had full editorial control

How the pandemic has increased focus on innovation © LU C H S C H EN

Patients have had restricted access to medical care and innovation during COVID-19. Stakeholder collaboration is vital to ensure this doesn’t become a long-term setback.

Why myeloma is so difficult to diagnose “The blood cancer, myeloma, is one of the most difficult cancers to diagnose, with more than half of patients having to wait more than five months for the correct diagnosis,” says Myeloma UK Chief Executive, Laura Kerby.

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ne of the main challenges is for the GP to suspect that their patient may have myeloma. It is a relatively rare cancer and, when you look at the common symptoms, which include bone pain, fatigue, persistent infections and nosebleeds, it is hard to see how they are connected.

“However, when you stop and think about where blood is made, what it is and what it does, it becomes easier to join the dots.”

Blood is essential to life Blood is a toolkit of cells essential to life.

There are three types of cells in your blood; red blood cells, white blood cells and platelets.

Red blood cells carry oxygen around the body so, low levels of red blood cells mean your body finds it harder to work and you will be fatigued.

White blood cells work as part of the immune system; without them our bodies can’t fight infection.

Platelets are the cells that stop bleeding when a blood vessel is damaged, for instance when you get a cut. Low levels of platelets make you bleed more easily, which can lead to abnormal bruising or nosebleeds.

These different cells all play an important role in keeping us healthy.

We have blood in our bones Bones are not just scaffolding to hold our bodies together. Although bone is made up of minerals and is hard, it is a living tissue that is continually maintained and has many functions including blood cell production.

In fact, most blood cells are made in the bone marrow, the spongy centre of our bones. The bone marrow maintains a delicate balance, ensuring that our bodies have the right levels of the various cells in our blood.

When the balance is disrupted it can impact the production of all these cells.

This causes a wide range of symptoms.

WRITTEN BY:

Laura Kerby Chief Executive, Myeloma UK

Myeloma disrupts blood at the source Myeloma is a blood cancer arising from faulty plasma cells – a type of white blood cells – in the bone marrow.

As myeloma cells multiply and grow, they overcrowd the bone marrow, disrupting the delicate balance and stopping the bones from maintaining themselves and suppressing the production of blood cells.

This can cause damage to the bones and the level of platelets, red and white blood cells to fall. As result, myeloma has multiple symptoms including bone pain, fatigue, infections, bruising and nosebleeds.

Although these symptoms seem unconnected, it is blood that connects them all. Myeloma affects blood at its source, impacting all blood cells.

The importance of early diagnosis “It is critical that we raise awareness of myeloma – still an incurable cancer – and make people aware of the symptoms,” concludes Kerby.

“Our Myeloma Early Diagnosis Programme brings together leading experts to discuss where delays might happen and where improvements can be made.

We strive to reduce time to diagnosis, reduce complications and to increase awareness of the early signs and symptoms of myeloma, by educating GPs and other healthcare professionals.

The longer patients wait for diagnosis, the higher the chances of having complications. If patients have any concerns or symptoms it is vital that they visit their GP to get checked.

Diagnosing myeloma early means that patients start treatment sooner, which helps prevent permanent damage, lengthens survival and preserves quality of life.”

T

INTERVIEW WITH:

Julian Cole Senior Director, Medical Affairs, Gilead Sciences

he full impact of COVID-19 on and the NHS and these mustn’t be lost UK health services may not when life returns to the ‘new’ normal”, be fully understood for some said Ropinder Gill, Chief Executive, time – but it’s already clear that Lymphoma Action. “It’s vital to the effects go beyond front line services. continue to ask how we can all do more With substantial resources diverted for cancer patients, including those to tackling the crisis, some groups of affected by lymphoma, so that every patients have found care harder to come patient can benefit from improvements by. in cancer care and treatment”.

“COVID-19 has brought the importance of our health into sharp Working together to make up for lost time focus,” explains Julian Cole, Country To ensure progress isn’t lost and patients Medical Director for UK and Ireland in the UK can access future innovations at research-based biopharmaceutical in healthcare, all stakeholders will have company, Gilead Sciences. “However, to work together – and recent successful it’s also reduced examples of patient access collaboration give to care and cause for hope. innovation.”

Two years ago, There have been some positive In blood cancer pharma companies, for example, clinical changes and real innovation NHS England, trials have been NICE (The National brought about by COVID 19... paused because Institute for these mustn’t be lost when life staff have been Health and Care returns to the ‘new’ normal” reallocated to Excellence), the care for COVID-19 Cancer Drugs Fund patients, and specialist blood cancer (CDF) and others worked together to treatments such as CAR T cell therapies ensure the successful roll-out of CAR have in some cases been delayed due to T cell therapy across the NHS in an limited hospital capacity. expediated timeframe.

There has also been an extraordinary Innovating to access health care collaborative response to the pandemic, Yet the pandemic has also been a Cole said, with the Medicines and catalyst for systemic changes which Healthcare products Regulatory could revolutionise care in the long term, Agency (MHRA) having approved some such as the introduction of remote GP necessary research in days rather than consultations. weeks or months.

“While some patients will always “Things can move fast if the desire is prefer face-to-face interaction with there,” he said. “We must continue to their physician, the feedback we’ve had collaborate to make up for lost time and across the therapy areas we work in, is ensure that funding and staff are in place that video calls are sometimes more so that studies can get up and running convenient for patients and clinicians,” again, and the system can harness Cole said. innovative healthcare technologies and Similarly, blood testing has been rolled potentially transform quality of life and out to GPs’ surgeries and home drop treatment outcomes for these patients.” delivery introduced for prescriptions – providing easier access to care.

Written by: “There have been some positive Tony Greenway changes and real innovation brought about by COVID-19 across many Job bag: UK-GIL-2020-06-0001 organisations such as charities like ours Date of preparation June 2020

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Ade Adebisi’s life with sickle cell disease I was raised in East London, to parents who pretty much lived in fear. Fear of a disease that could take their children’s lives at any time.

WRITTEN BY: Ade Adebesi Professional rugby player, Sickle cell ambassador

S

ickle cell disease (SCD) is one of the most common genetic causes of illness and death in the world.

A disease that would have your parents try to wrap you in cotton wool for the fear you might have a ‘crisis’ and ultimately, die.

Sport was not an option and probably seen as a death wish.

The turning point in my life was having a role model who believed in me. My PE teacher, Andy Hurst, saw a talent in me and encouraged me to try out for his old rugby league club, The London Skolars.

I became a sportsman, played for the Skolars and then the Broncos, but I kept this as far away from my mother as possible as she had lost one child already.

What is sickle cell disease (SCD)?

Sickle cell disease means you can’t take in

enough oxygen. It means struggling with fitness levels, fatigue, pain and crisis.

Today, I am the only sufferer to have played rugby in the world, so I decided to be an ‘Andy Hurst’ to sickle cell sufferers, to show that anything is possible, using what I knew best – sports, and rugby!

Being tagged a ‘role model’ is not something I ever expected to feature in my life journey. I was just content with ‘surviving’ and later asking myself ‘why’ I survive every day.

vision to raise awareness of sickle cell – to support diagnosis and ultimately facilitate more research and treatment options for patients.

Raising awareness for SCD I have worked hard to raise awareness of the disease, to eradicate the stigma associated with SCD and be that person any young or old sickle cell sufferer can look up to.

My name is Ade Adebisi, I am a BritishNigerian rugby league player who played rugby for the British Amateur Rugby League Association (BARLA), for the London Skolars, the London Broncos, Hull FC, Doncaster Lakers, Featherstone Rovers and Whitehaven.

I am the only rugby player to ever play professionally with a genetic blood disorder called sickle cell. This condition contributed to the shortening of my sports career.

I have dedicated the last few years of my life to this cause, constantly seeking to partner with and engage global companies – who share the mission and

Early diagnosis is the key I am a new dad and, as a parent, I know that the earlier we detect sickle cell, the earlier we can find a solution for it.

Sickle cell is an ethnic minority disease that impacts Black people and Asians.

There are approximately 300,000 global births with SCD annually, 200,000 of which are in Africa.

SCD has a 50% – 90% global mortality rate. Nine per cent of all deaths that occur in children under five, in sub-Saharan Africa, is attributable to SCD. The awareness I am raising through my foundation and being an ambassador of SickleScan (a BioMedomics product) is gaining momentum and attracting attention.

You know you are doing the right thing when people contact you thanking you for showing them that they can be ‘human’ and live a full life too.

I am the only rugby player to ever play professionally with a genetic blood disorder called sickle cell.

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Transforming sickle cell disease services to offer fresh hope Sickle cell disease is a painful, unpredictable condition that severely impacts on health and quality of life – but advances in treatments and care delivery are providing new hope.

Professor Jo Howard Consultant Haematologist, Guy’s and St Thomas’, London

Written by: Amanda Barrell

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ecent advances could transform the management of sickle cell disease (SCD), an inherited blood disorder with a high toll on physical and psychological health.

SCD, which affects between 12,0001 and 15,000 people in the UK primarily from black communities, leads to anaemia and recurrent, debilitating pain, that leaves patients hospitalised.

People living with the condition have faced a lack of effective treatments and stigmatisation, but a shift in the way the condition is treated and managed could change all that, says Professor Jo Howard, consultant haematologist at Guy’s and St Thomas’ in London.

High physical and emotional burden Sickle cell disease means you can’t take in enough oxygen. It means struggling with fitness levels, fatigue, pain and crisis.

Professor Howard explains: “People experience unexpected, unpredictable, severe pain and need to come into hospital for very strong painkillers.

“It can happen out of blue, or it can be precipitated by things like cold weather, stress, exertion, and infection.

“It’s incredibly stressful to know your plans could be disrupted by pain at any point. It’s hard for children to think if they go and play a game of football or build a snowman, for example, they might then experience severe pain.”

SCD, Professor Howard explains, has a huge psychological impact on patients.

They live with the fear of chronic complications, including an increased risk of strokes, infection, kidney failure, and heart, lung and eye problems.

Available treatments focus on managing the pain Currently, there are few treatments for SCD, meaning healthcare teams focus on managing pain and preventing complications.

“We give penicillin to all children to stop infections and folic acid to help them build their blood.

“There is only one licenced treatment, hydroxycarbamide2, which is very effective, but it has side effects and isn’t suitable for everyone,” explains Professor Howard.

Bone marrow transplantation is the only

© K AT ERY N A KO N / S C I EN C E P H OTO L I B R A RY

INTERVIEW WITH

currently available cure, though side effects are common, and it works best when the donor is a matched sibling – something only possible in around 20% of cases.3 Many people are treated with regular blood transfusions, particularly the 10 to 15% of children deemed to be high-risk of having a stroke, she said.

“That means coming to the hospital every three to eight weeks. It’s not the easiest treatment to have for your whole life,” said Professor Howard.

But new treatments are currently being trialled, making it an “exciting time.”

Ensuring there is no postcode lottery; nor stigma In October, the NHS restructured its sickle cell services, enabling the country’s smaller hospitals to easily tap into the knowledge and expertise at specialised centres.

As well as ensuring that everyone with SCD receives the best care, no matter where in the country they live, Dr Howard also hopes this new approach will help fight false perceptions.

“Historically, people with SCD have felt stigmatised by the medical profession when they come in with pain crisis, especially in places that don’t see a lot of sickle cell.

“That is changing because we are raising awareness, whether that’s through continued education or the patient societies.”

12-week isolation during COVID-19 for people with SCD COVID-19 is also changing services for people with SCD, who have been deemed as “extremely clinically vulnerable” and asked to shield for 12 weeks.

Despite initial fears, data collected by sickle cell teams are encouraging for children, showing a similar risk profile to that of the general population. Concerns remain around increased vulnerability in some adults with SCD. To help people visit hospital as little as possible, telephone and video consultations have become the norm, and psychologists are offering virtual support group sessions.

“A lot of patients really like the way we are doing things now. Virtual consultations are something we have been trying to do for some time, but this has really given us the impetus to do it.

“I imagine that we will continue to do some of our consultations virtually and I think that will be really beneficial for patient care,” said Professor Howard.

ONC20-C080; June 2020 Reference 1: Dormandy, E et al. J Public Health (Oxf).

2018 Sep 1;40(3):e291-e295.

Reference 2: Hydroxycarbamide SmPC, available at https://www.medicines.org.uk/emc/product/10350/smpc (last accessed June 2020) Reference 3: Gluckman, E et al. Blood.

2017 Mar 16;129(11):1548-1556.

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Could CAR-T therapy be used more widely?

CAR-T therapy is one of the most exciting advances in cancer treatment in recent years, potentially providing a cure when all other drugs have failed.

But, currently, its use is limited to a small group of patients

WRITTEN BY:

Dr Alasdair Rankin Director of Research and Policy, Blood Cancer UK

O

nly six children with acute lymphoblastic leukaemia (ALL) and 75 adults with diffuse large B-cell lymphoma (DLBCL) were treated with CAR-T therapy by the NHS in England between October 2019 and March 2020, according to official data.

Cost often means CAR-T therapy is a last resort CAR-T therapy works by taking T cells from the patient and changing them to produce new proteins on their cell surface, allowing them to seek out and destroy cancer cells.

The NHS funds its use for three types of blood cancer – and only when all other treatment options have been exhausted.

Therefore, the number of people who can benefit from CAR-T at the moment is quite small – a message that was perhaps lost in the media fanfare when it was made available in late 2018.

CAR-T therapies are manufactured for each individual patient using their own cells, making them very expensive.

Could CAR-T therapies be mass-produced?

Blood Cancer UK is funding a team led by Professor Waseem Qasim at University College London, who is looking at how to ‘edit’ DNA carried by T cells to allow CAR-T cells to attack cancerous T cells.

Not only would this allow CAR-T therapies to treat more types of blood cancer – their use so far has been mainly restricted to treating cancers that start in B cells – it could also make CAR-T therapies ‘universal’.

Using one batch of CAR-T cells to treat many patients would make the treatment significantly cheaper.

Treating a wider range of blood cancers The CAR-T therapies currently approved to treat childhood ALL and DLBCL are engineered to recognise a protein called CD19, which is found in large numbers on the surface of these cancer cells.

We may see CD19 CAR-T used more widely as trials investigate its use in other B cell cancers, and at earlier stages of treatment.

But another challenge has been to design effective CAR-T therapies to target cancer cells that do not have such a common protein on their surface.

We funded one part of this story – early research into a new CAR-T therapy for myeloma that targets a common protein found on myeloma cells called BCMA and another protein at the same time.

This promising approach of targeting multiple proteins on a cancer cell in order to increase response rates is becoming more common in CAR-T therapy development.

Clinical trials for CAR-T therapies that target the BCMA protein on myeloma cells are starting to show promise.

What is next for CAR-T therapy?

A new type of CD19 CAR-T therapy for mantle cell lymphoma is being assessed for use on the NHS this year. This is a blood cancer with a clear, unmet patient need, with only around four in 10 people currently surviving longer than five years.

CAR-T therapy is also expected to be assessed as a treatment for people with DLBCL who have relapsed or not responded to just one form of standard treatment, potentially extending its use.

With a review also due on whether the two CAR-T therapies currently available through the Cancer Drugs Fund should be made permanently available on the NHS in England, there will be more tough decisions for NICE to make as they weigh the value of these expensive treatments that we know can provide a lifeline for people with blood cancer.

Haemophilia: treatment advances and hope One of the most common bleeding inherited disorders is haemophilia.

Haemophilia A occurs in around one in 5,000 male births and haemophilia B is one in 25,000 live male births.

H

WRITTEN BY:

David Gómez-Almaguer M.D. FACP Head Hematology Service. Hospital Universitario, UANL, Monterrey, México Chair of Council International Society of Hematology

aemophilia A and B are clinically similar. Both are X-linked recessive disorders, occurring by mutations in the gene for blood clotting factors.

The severity of bleeding varies in direct relation to factor activity or level in circulating in plasma. More than half of patients with haemophilia are considered severe, as they have factor levels of less than 1% of normal.

These patients have a severe bleeding condition, suffering from frequent soft tissue and musculoskeletal affection.

The importance of factor replacement Without proper factor replacement, patients will develop repeated episodes of intra-articular bleeding, which causes severe and progressive arthropathy.

Eventually many patients will present with deformity, loss of joint function and may be permanently disabled.

Many years ago, the administration of fresh or frozen plasma and cryoprecipitates was the only way to treat these patients.

It is important to understand that, in many low-middle income countries, these blood derived products are still the only way to treat haemophilia patients.

In more developed countries, FVIII or FIX concentrates are employed and therefore considered the gold standard.

Currently, the ideal strategy for clotting factor administration is prophylaxis. In this setting, FVIII or FIX concentrates are regularly infused with the goal of maintaining the factor level above 1%.

It is important to start in early childhood in order to avoid complications, as this strategy prevents arthropathy and allows patients with haemophilia to obtain a near-normal life expectancy with a good quality of life.

Prophylaxis in haemophilia is not an easy task since frequent IV administration of factor concentrates is needed.

Usually, the infusion must be done two to three times a week and this is burdensome, demanding and highly expensive.

New advances in haematological care In the International Society of Hematology (ISH), we have considered that there are three recent important advances in the field:

1

The long half-life concentrates of FVIII and FIX. These new, different synthetic formulations that have been modified could be administered once weekly for haemophilia A and even once bi-weekly in patients with haemophilia B.

2

The development of a new antibody: emicizumab facilitates the change of FX to its active form improving haemostasis.

It has been suggested that this improvement is equal to a plasma FVIII level around 15%. It is active even in the presence of inhibitors and could be delivered by subcutaneous administration.

3

Finally, the development of gene therapy. There is new scientific evidence that this kind of permanent therapy could work, resulting in improvement of bleeding. Several studies in this area are moving forward.

Of course, there are still some obstacles, but it is expected that curative gene therapy is going to be soon among us.

There are several impressive advances in the field of haemophilia treatment.

But the questions regarding cost remain. We must remember that 80% of the population live in the low-and middle-income countries.

We will have to find the way to bring these new advances to everyone in the world. ISH is ready to help.

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Gene therapy could be a “game changer” in haemophilia Interview with

Dr Frank Leebeek Professor In Haematology, Erasmus University Medical Centre, Rotterdam

Dr John Pasi Professor Of Haemostasis And Thrombosis, Bart’s And London School Of Medicine And Dentistry, London

Written by: Amanda Barrell

The latest literature suggests that gene therapy looks set to offer life-changing results to people living with the rare blood disorders haemophilia A and B.

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“Some just can’t believe it. They no longer need prophylactic injections three times a week, or 150 times a year – that’s a huge improvement in quality of life,” he said.

One-off treatment to replace multiple weekly injections Professor in Haematology at Rotterdam’s Erasmus University Medical Centre, Dr Frank Leebeek, says: “We have treated six people, and between 100 and 200 have been treated worldwide.

“We are finding that after this single infusion, most people produce factor VIII or factor IX in their own liver.

“That prevents the spontaneous bleeds that can lead to arthropathy, and takes away the need for prophylaxis. They no longer need to infuse themselves two or three times a week and the haemophilia has essentially been cured.”

Professor Leebeek describes the treatment, which uses a recombinant adeno-associated virus (AAV) to deliver the missing DNA to the nuclei of liver cells, as “transformative”.

“For the patients we have treated, it has changed their lives completely. They no longer live in fear of having bleeds or needing another injection. They might be able even to undergo surgical procedures without coagulation concentrate.

Developing gene therapy has been complex – until 2011 It’s been a long road, explains Dr John Pasi, Professor of Haemostasis and Thrombosis at Bart’s and London School of Medicine and Dentistry.

“Gene therapy is often cited as the Holy Grail in haemophilia,” he says, explaining the aim of both traditional intravenous and newer subcutaneous prophylaxis treatments was to increase coagulation factor levels from less than 1% of normal to more than 1%.

“You don’t need much of an effect to change a person’s life; it’s easy to measure the effects of treatments through bleeding patterns, and haemophilia is caused by a single gene.

“That makes it an ideal target for gene therapy. But for 20-odd years, it was fraught with expectation and failure.”

All that changed in 2011, when a study from University College London’s St Jude’s showed it was possible to stimulate the expression of low levels of factor IX in haemophilia B. An “explosion” of work followed, culminating in 2017, when researchers using “super active” versions of the factor IX gene recorded close to normal levels, up to 30%, in treated haemophilia B patients.

“The results changed the boundaries of the possible,” says Professor Pasi.

“Things have come a long way in the last five years. We used to talk about only needing 1% or 2%, but now we have

ene therapy has long been ‘the Holy Grail’ in haemophilia treatment, and after years of raised expectations and dashed hopes, the approach is finally starting to bear fruit.

Blood disorders are characterised by a lack of coagulation factor VIII in haemophilia A, or factor IX, in haemophilia B. Replacing the burdensome regime of frequent prophylactic injections with a one-off treatment could be game changing for those living with these inherited blood conditions.

seen all these hugely positive results, we have moved the goalposts,” he said.

Without a shadow of a doubt, this could be game changing.”

Unanswered questions remain It is still early days though, and, despite the positive results, many unanswered questions remain.

Researchers are unsure how long the results will last, if AVV antibodies will hinder the success of any repeat treatment if required, or what drives the wide variations in individual responses seen in the literature.

While few adverse events have been seen in the studies, which now cover a decade of procedures, some people have developed an increase of liver function tests.

Much more long-term follow-up data is needed before firm conclusions can be drawn, warned both professors.

“The studies have been incredibly positive. We’ve seen nothing that worries us in terms of safety, but we must make sure we’re aware of all the issues.

“The worst thing we can do is to tell people we have the Holy Grail, and then it doesn’t deliver,” said Prof Pasi.

“The most important thing is how it affects our patients, as individuals. If they are off prophylaxis and they are no longer bleeding, we have scored for the patients.”

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Genomics accelerates treatment evolution INTERVIEW WITH

As technology accelerates developments in genomics, what is the impact on patients?

W

Dr Susie Cooke Head of Medical Genomics, Glasgow Precision Oncology Laboratory

Dr Philip Beer Head of Genomic Strategy, Glasgow Precision Oncology Laboratory

Dr Daniel Hodson Clinician Scientist Fellow, University of Cambridge

e’re only looking at the tip of the iceberg of what genomics can do in terms of haematological cancers,” says Dr Daniel Hodson, Clinician Scientist Fellow at the University of Cambridge.

As our understanding of genetics has developed, we’ve pulled apart many assumptions about cancers and can now pinpoint the genetic mutations that cause many of them. Genomics is taking things a step further.

As we understand more about genes and their impact on cancers, we’re slowing unravelling the complexity of the disease and the way it behaves.

Genomics discoveries – common blood cancer is actually a combination of multiple diseases One example is recent research into diffuse large B-cell lymphoma, the most common type of blood cancer.

We used to think this was a single type of cancer. However, thanks to developments in genomics, scientists have identified a much more complex picture.

As Dr Philip Beer, Head of Genomic Strategy at Glasgow Precision Oncology Laboratory explains: “What’s become very clear in the last few years is that it’s probably at least seven diseases, maybe more, and at a genetic level they are all quite different.”

These findings have the potential to

radically change the way patients are diagnosed and treated – moving from a one-size-fits-all approach to a much more focused one.

Personalised treatment taking the whole patient into account Beyond treatment, because genomics takes into consideration all the important features in a patient’s genome, it can help to shape everything from diagnosis and prognosis, right through to the possible side-effects a patient may experience.

In short: “It has the potential to cause a major shift in the system,” says Dr Susie Cooke, Head of Medical Genomics at Glasgow Precision Oncology Laboratory.

The promise is huge, but, in reality there is a significant lag between what’s going on in the lab and what patients are experiencing.

While technology is helping to short cut a lot of manual processes, there is no way, as yet, of fast-tracking clinical trials.

Going back to the example of diffuse large B-cell lymphoma, we may know that there are seven subtypes, but it will take years to accumulate enough evidence via clinical trials to help shape treatment.

“There’s been a lot of hype that precision medicine will revolutionise healthcare, but it’s more of an evolution,” confirms Beer.

We need more data to continue learning

Beyond the practical limitations, work also needs to be done to build up a wider bank of data.

“It’s only once we collect genomic data and clinical data on everyone that we can be accruing enough to pair things up and learn useful things about how to treat patients properly,” confirms Hodson.

The good news is that the tide is starting to turn. Drugs are slowly being introduced based on low level genetic testing and the NHS has embarked upon a process to overhaul their genomic testing of cancer patients.

There will be no overnight revolution in blood cancer treatment. But as our knowledge grows and technology advances, the evolution is certainly gathering speed.

Written by: Kate Sharma

Read more at healthawareness.co.uk