BSH Crucible Prize
The Crucible Prize is an innovative trainee-led initiative with a £1,000 prize. The prize is open to doctors in training, nurses and other healthcare professionals (at any stage of their career).
The prize aims to encourage reflection on what we do as healthcare providers and why we do it.
The theme for the 2024 Crucible Prize is 'What is the greatest threat to the future of haematology?'
Please email your abstract as an MS Word file (max. 250 words) to [email protected].
The deadline for submissions for the 2024 prize is 12 January 2024.
We will notify authors about the outcome of their submissions in the week commencing 12 February 2024.
We will select the five best abstracts for oral presentation at the BSH Annual Scientific Meeting, which will be held in Liverpool on 28-30 April 2024. Presentations will be judged on the quality and originality of their content, presentation skills and response to questions.
If you have any questions, please email [email protected].
The theme for the 2023 Crucible Prize was 'What can haematology learn from history?' The winner was Peter Johnstone.
Whilst haematological research has become increasingly advanced, we still lag behind when interrogating the decisions that underpin this research. Here, we can learn from historiography. Historiography is the history of history; it looks not at an event itself but considers how it was studied, the writers’ biases, and even why the event was studied at all.
Like historiographers we too must ask about how something was studied, considering not just the methodology of any single study but the shifts in methodology across multiple studies, such as increasing use of PFS rather than OS1, 2. We too must ask about bias, not just within studies, but external to this, in our choice of research and study design, and even in who is able to take part in research3.
And most importantly, we too must ask why something was studied. History is shaped by ‘turns’ – shifts in the lens through which it is analysed. These shifts are rooted within the societal ideas of the day, and what haematologists study is shaped by the same winds - we need only look at sickle cell disease, which for many years was underfunded and under researched because of institutional racism and a western-centric research focus4, 5. The other great determinant of research focus is funding, often provided by a relatively small number of pharmaceutical companies; a system which inevitably sways attention towards more commercially profitable research.
We want to believe in science as objective but we do ourselves and, more importantly, our patients a disservice if we do not look deeper. And if we want to continue to improve the treatment of those patients it is essential that, like historiographers, we examine the forces which shape our research and which, ultimately, determine the data upon which we rely.
- Del Paggio JC, Berry JS, Hopman WM, et al. Evolution of the Randomized Clinical Trial in the Era of Precision Oncology. JAMA Oncol. 2021;7(5):728-734. doi:10.1001/jamaoncol.2021.0379
- Kovic B, Jin X, Kennedy SA, et al. Evaluating Progression-Free Survival as a Surrogate Outcome for Health-Related Quality of Life in Oncology: A Systematic Review and Quantitative Analysis. JAMA Intern Med. 2018;178(12):1586–1596. doi:10.1001/jamainternmed.2018.4710
- Tanne J H. White male authors still dominate top academic medical publishing, two studies report BMJ 2022; 377 :o1044 doi:10.1136/bmj.o1044
- Farooq F, Mogayzel PJ, Lanzkron S, Haywood C, Strouse JJ. Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity. JAMA Netw Open. 2020;3(3):e201737. Published 2020 Mar 2. doi:10.1001/jamanetworkopen.2020.1737
- Mahase E. Sickle cell disease: inquiry finds serious care failings and racism towards patients BMJ 2021; 375 :n2782 doi:10.1136/bmj.n2782
Throughout history, storytelling has been the most common way of sharing information.1 Myths and fables were used to teach children life lessons and have persisted through centuries; similar plots appear in books and films due to their enduring nature, such as good vs evil or the triumph of the underdog.
Haematology is a rapidly advancing and highly technical specialty, with a large volume of new information generated each year. This information must be disseminated to haematologists, but also to non-specialists, and ultimately to patients. Narrative offers a non-specialist and engaging way to do this, as exemplified by Suddharta Mukerjee’s ‘The Emperor of All Maladies’.2
At the advent of Haematology in the 19th century, when Bennett and Virchow first found ‘colourless corpuscles’ in the blood of patients afflicted with malaise, fever, and enlargement of the spleen, it was their careful documentation of the patient and practitioner’s stories that allowed them to classify the disease entity of ‘leucocythaemia’ and haematopoietic physiology.3
Storytelling has uses for both doctors and patients – for the former in learning, providing a memorable framework on which to hang detail (such as the introduction of case-based learning in medical schools) which engages visual, auditory, and kinaesthetic learners, and for the latter in orienting and contextualising symptoms and experiences that have led to a diagnosis, and in starting to write a new narrative so that outlook may influence outcome.4
Haematology could better include stories within all aspects of communication, from the academic literature where study design and the implications of a study for patients could be made more compelling,5 to clinical letters and referrals to other specialties, and extending to the therapeutic relationship with patients, contributing towards holistic care by helping to develop a new narrative.
- Davidson, R. (2016) The art of storytelling. Information Systems Journal. 26 (3), pp. 191-194. https://onlinelibrary.wiley.com/doi/10.1111/isj.12105
- Mukerjee, S. (2011) The Emperor of All Maladies: a Biography of Cancer. London, England: Fourth Estate.
- Hughes Bennett, J. (1852) Leucocythaemia, or white cell blood: in relation to the physiology and pathology of the lymphatic glandular system. Edinburgh: Sutherland and Knox. Accessed through: https://wellcomecollection.org/works/avrzy3fm/items?canvas=7
- Greenhalgh, T and Hurwitz, B. (1998) Narrative based medicine: dialogue and discourse in clinical practice. London: BMJ Books.
- McCall et al. (2019) Storytelling as a research tool and intervention around public health perceptions and behaviour: a protocol for a systematic narrative review. BMJ Open, 9:e030597. doi: 10.1136/bmjopen-2019-030597
“You do not know what you will find, you may set out to find one thing and end up discovering something entirely different” – Alexander Fleming
As the pace at which medicine is advancing continues to accelerate, haematologists will increasingly find themselves practicing unfamiliar medicine and using novel treatments. Whilst most scientific breakthroughs hopefully lead to an overall improvement in quality of life and prognosis, it is imperative that enough attention is paid to the shortcomings of new treatments and adverse events.
The recent COVID pandemic is a stark reminder of the cyclical nature of history and the need for healthcare professionals to utilise lessons learnt by our predecessors. Fleming and the discovery of penicillin highlights how mistakes in practice can sometimes lead to unexpected but useful revelations. The use of thalidomide as a treatment for hyperemesis gravidarum in the 1960s devastatingly lead to birth defects in thousands of people. Today, the repurposing of thalidomide, through lateral thinking and further study, has contributed to significant improvements in the prognosis of patients with Multiple Myeloma.1 Mortality following allogenic stem cell transplant continues to decrease overtime as knowledge surrounding complications and how to manage these improves, despite the fact that patients receiving stem cell transplants are becoming increasingly complex.2
These examples from history demonstrate the merit in studying adverse events and undesired outcomes. National reviews of patient health records indicate that errors currently occur in 10% of hospital admissions.3 With new treatments and more complex patients this will likely increase. It is estimated that voluntary reporting by healthcare professionals of such events only occurs 70% of the time.3 History should be used to guide essential changes in attitudes towards error reporting and help to create an ethos where ‘failings’ are more willingly recognised as a tool to guide improvement and innovation.
- Strasser, K. and Ludwig, H. (2002) “Thalidomide treatment in multiple myeloma,” Blood Reviews, 16(4), pp. 207–215.
- Penack, O. et al. (2020) “How much has allogeneic stem cell transplant–related mortality improved since the 1980s? A retrospective analysis from the EBMT,” Blood Advances, 4(24), pp. 6283–6290.
- Rafter, N. et al. (2014) “Adverse events in healthcare: Learning from mistakes,” QJM, 108(4), pp. 273–277.
In history, the term revolution refers to an attempt to bring about profound political or social change. While history generally judges revolutions favourably as catalysts of positive change, they are ethically ambivalent events: Violence is a common feature; anarchy may arise or one oppressive or corrupt regime may replace another; external forces may be manipulating events for ulterior motives; and, even after ‘successful’ revolutions, promised goals may not materialise.
In our times, Haematology is undergoing a revolution: Previously inconceivable genetic, cellular and immune therapies are developing at a dazzling rate; New and increasingly efficient laboratory technologies - from next-generation sequencing to artificial intelligence-powered tools – add new dimensions to the field of pathology, transforming diagnostic and research capabilities. Yet history teaches us that scientific revolutions, like political ones, can be a double-edged sword.
As we reflect on the history of revolutions, we ought to contemplate the moral challenges our own times bring: Some exciting developments are yet to fail; Others could cause patients to receive treatments which do more harm than good; The full scope of ethical implications of some new technologies are still unknown and may enter wholly uncharted territory; The influence of corporate industry on scientific progress is ever increasing; And, crucially, for so many hopeful patients, novel treatments come too late, are not accessible, or simply do not work.
In our age of enthusiasm and hope it is therefore more important than ever to establish strong ethical frameworks and institutions that guard this revolution from unwanted excess or influence. While making full use of the ever-increasing range of technologies and therapeutic options, we must remain focussed on providing truly personalised care, responding to the individual needs of every patient-person under our care. Only if we achieve this, will history judge us favourably.
History is full of human error, and alongside that, human attempts to hide the truth and protect themselves. From Watergate to Chernobyl, we have made bad situations worse by trying to hide our mistakes and avoiding discussing them openly. Haematology is not immune to this; one only needs to look back at the contaminated blood scandal of the 70s and 80s and the ongoing furore. The scandal was always going to be damaging to the public perception of Haematology and transfusion, but this was considerably worsened and amplified by the decades-long and deeply embittered fight between victims and the government.
Trust is the absolute bedrock of the relationship we have with our patients. The past few years have only highlighted this further. This trust lives and dies through our candour. We will make more mistakes, and our patients will be upset, but the only way to preserve the trust beneath is to own them and be open and honest about what has happened.
Our natural human instinct when mistakes happen is to hide, deflect, and generally defend ourselves. All these reactions are normal, and human – but to care for our patients effectively we need to learn to overcome these inclinations. History, by its nature, is full of large and elaborate scandals, but the same mistakes occur every day on our wards and in our clinics. We need to develop a culture that expects and owns our mistakes, that learns from them. One that drives honest improvement and fosters the level of trust our work requires. We need to trust each other, that our candour fuels growth, not blame. It will take time, but only by committing together can we overcome our basal instincts.
History has shown us where our instincts will take us; It’s down to us to do better.
The theme for the 2022 Crucible Prize was 'What current haematology practices would seem absurd to the haematology community in 2050?' The winner was Richard Buka.
Physicians of the past who often imposed harmful, unproven treatments are scorned by modern medics and their patients pitied. However, a recent BMJ project reviewed 3,000 current medical practices finding half to be of uncertain benefit and 15% to be harmful.1
In haematology, there are numerous practices that are incompatible with a rational approach to medicine. We have taken up academic positions that are supported by rhetoric but not by evidence and are in fact contradictory and illogical.
Firstly, we use assumption of benefit to adopt powerful treatments unsupported by evidence and with a real risk of harm such as anticoagulant reversal and granulocyte infusions.2,3 We continue harmful practices such as CNS prophylaxis for lymphoma because we have no gold-standard evidence to refute them despite the best available evidence showing no benefit.4,5 In these situations, we show limited appetite to do proper trials. We use these treatments as we feel we have to do something but in so doing, contravene primum non nocere. Furthermore, we often ignore what matters most to patients - quality of life6 - focusing instead on clinically meaningless changes in objective parameters.7 Worst of all, we collaborate with pharma in the exploitation of patients for pointless, low-priority trials such as those in premalignancy8,9 and randomised controlled trials with suboptimal control arms.10
By the middle of the century, haematologists will reflect on our time with sadness at wasted opportunities to learn from and ameliorate suffering. However, by 2050 I am optimistic that we will have organised ourselves to better pursue the truth and advocate for patients. We will stop adopting unproven therapies and demand better evidence, we will say no to pointless or unethical trials, prioritise where we expend our energy and patients’ risk, and regain independence from pharma.
- Clinical evidence | The BMJ [Internet]. [cited 2021 Nov 30]. Available from: https://www.bmj.com/specialties/clinical-evidence
- National Institute for Health and Clinical Excellence. Appraisal consultation document: Andexanet alfa for reversing anticoagulation. 2020;1–13.
- Pagano MB, Morton S, Cohn CS, Gross S, Kutner J, Lewin A, et al. An International Registry of Granulocyte Transfusions. Transfus Med Hemotherapy. 2018;45(5):318–22.
- McKay P, Wilson MR, Chaganti S, Smith J, Fox CP, Cwynarski K. The prevention of central nervous system relapse in diffuse large B-cell lymphoma: a British Society for Haematology good practice paper. Br J Haematol. 2020;190(5):708–14.
- Bobillo S, Joffe E, Sermer D, Mondello P, Ghione P, Caron PC, et al. Prophylaxis with intrathecal or high-dose methotrexate in diffuse large B-cell lymphoma and high risk of CNS relapse. Blood Cancer J. 2021;11(6):5–10.
- Haslam A, Herrera-Perez D, Gill J, Prasad V. Patient Experience Captured by Quality-of-Life Measurement in Oncology Clinical Trials. JAMA Netw Open. 2020;3(3):1–19.
- Fenaux P, Platzbecker U, Mufti GJ, Garcia-Manero G, Buckstein R, Santini V, et al. Luspatercept in patients with lower-risk myelodysplastic syndromes. N Engl J Med. 2020;382(2):140–51.
- Mateos M-V, Hernández M-T, Giraldo P, de la Rubia J, de Arriba F, Corral LL, et al. Lenalidomide plus Dexamethasone for High-Risk Smoldering Multiple Myeloma. N Engl J Med. 2013;369(5):438–47.
- Langerbeins P, Zhang C, Robrecht S, Cramer P, Fürstenau M, Al-Sawaf O, et al. The CLL12 trial: Ibrutinib versus placebo in treatment-naïve, early stage chronic lymphocytic leukemia. Blood [Internet]. 2021 Nov 10 [cited 2021 Nov 30]; Available from: https://pubmed.ncbi.nlm.nih.gov/34758069/
- Hilal T, Sonbol MB, Prasad V. Analysis of Control Arm Quality in Randomized Clinical Trials Leading to Anticancer Drug Approval by the US Food and Drug Administration. JAMA Oncol. 2019;5(6):887–92.
In 2050 it will seem absurd that we had the luxury to always offer our patients the treatment with the best evidence behind it. In 2050, we will have to give our patients the best treatment that is available, due to a shortage of medicines. A number of factors will lead to this change.
Firstly, this shortage will result from a scarcity of the resources required to manufacture medicines.
Secondly, there may be changes in international relations and trade - the UK imports the majority of medicines we prescribe. For example, we import 25% of our medications from India. With a growing and ageing Indian population with a larger middle class that has greater access to healthcare, there may be domestic political pressure to keep these medications for use within India. Similarly, escalating tensions between the West and China could reduce our access to the many other pharmaceutical drugs we import.
Thirdly, some countries may start stockpiling. We recently saw the societal effects of a perceived UK fuel shortage. If leaders perceive such a threat to national drug supplies, then some nations may start stockpiling. This inevitably results in some countries missing out.
Finally, the number of people aged over 65 will double to 1.5billion by 2050. A large proportion of haematological malignancies are associated with older age. We can expect to see a large increase in the incidence of haematological malignancies and more patients seeking treatment.
These immense pressures on healthcare will be felt in many ways but haematologists’ heavy reliance on chemotherapeutic agents renders us particularly vulnerable to drug availability.
Our prescribing power is currently limited by funding and approval. By 2050 our prescribing power will sometimes be limited by physical drug availability. We may have to be malleable in our treatment choices in future.
Over 500 million biochemistry and 130 million haematology blood tests are carried out each year in the UK1. Each blood bottle consists of a plastic tube, rubber cap and paper label with reagents inside, which is subsequently disposed of after a single use. This is not sustainable either financially (each bottle is around 30 pence) or environmentally and systems to wash, sterilise and reuse blood bottles are urgently needed.
This issue came to the fore in September 2021, when clinicians across the UK were strongly encouraged to reduce pathology testing because of a global shortage of blood bottles. The inability to re-use current supplies in circulation was to the detriment of our patients, who were put at risk of delayed diagnosis and reduced disease monitoring during this period and the catch-up effort since. Whilst NHS clinicians have a duty to steward resources responsibly, this should not be at the expense of patient care.
Equally topical and arguably more important, healthcare is carbon intensive and a large contributor to climate change2, one of the greatest threats to global health in the 21st century3. McAlister et al’s 2020 paper4, analysing the lifecycle of common blood tests, identifies the main source of carbon emissions to be in sample collection consumables (up to 95% for a coagulation profile) and that total emissions for 100 Full Blood Counts equated to driving a car 77 km.
By 2050, non-invasive blood-analysis technology may be developed, but long before then investment in simple technology to reuse blood bottles is necessary and achievable. With resourcing and climate change pressures growing stronger each year, the haematology community must lead in this area. In 2050, I hope to be remarking with colleagues and patients ‘Can you believe we used to take a blood sample in a throwaway bottle 30 years ago?!’
- ClinBiochem Review Feb 2008 29(1): 3-10 cited in Service Improvement in Blood Sciences (NHS Improvement - Diagnostics, Jan 2013)
- Eckelman, M.J. and Sherman, J., 2016. Environmental impacts of the US health care system and effects on public health. PloS one, 11(6), p.e0157014.
- Landrigan, P.J., Fuller, R., Acosta, N.J., Adeyi, O., Arnold, R., Baldé, A.B., Bertollini, R., Bose-O'Reilly, S., Boufford, J.I., Breysse, P.N. and Chiles, T., 2018. The Lancet Commission on pollution and health. The Lancet, 391(10119), pp.462-512.
- McAlister, S., Barratt, A.L., Bell, K.J. and McGain, F., 2020. The carbon footprint of pathology testing. Medical Journal of Australia, 212(8), pp.377-382.
Countless journeys to hospitals, the gilded cage of a side room, ’sharp scratch’ from different voices - that’s the reality for haematology patients dependent on Day Centres to receive their scheduled blood transfusion or treatment. In the Covid era, where the message to ‘Stay Home, Stay Safe’ has been broadcasted to the nation, its emphasis for this immunosuppressed cohort has not been lost, but is dissonant with current practice.
Due to the vulnerable patient group, services have mostly been uninterrupted. However, steps have been taken to reduce exposure to hospital settings. Recently, centres have started to establish home transfusion services for stable patients. The results of one study overwhelmingly support home blood transfusion as a safe and efficient system .
In the year 2050, I expect the mental, physical and social shifts of healthcare from hospital to home will be the new norm. Virtual hospital at home models have already been piloted . It offers patient-centred care focused on their wellbeing, reduces strain on acute services, and considers infection control practices. The current practice of clustering large groups of vulnerable and potentially unwell patients into waiting areas, cycling them through different rooms just to receive a treatment would certainly seem absurd to the community 30 years from now. Historically, patients felt safer in hospital, particularly with regard to receiving transfusions . However, in the post-Covid era, these views may be outdated as hospitals are now perceived as a breeding ground for infections and a lonely place with complex visitation policies. Unsurprisingly, patient satisfaction with telemedicine during the pandemic was high .
Therefore, I propose that haematologists start considering a paradigm shift away from traditional in-person medicine, and work with patients to build a model where accessibility and convenience are factored into personalised medicine. Only a few years ago, the disruption in our care systems were unimaginable. Perhaps in 2050, this will be seen as a catalyst for many innovations in our practice.
- Sharp, R., 2021. Nurse-led home blood transfusions highlight new trend in healthcare. [online] Available at: <https://www.unisa.edu.au/media-centre/Releases/2021/nurse-led-home- blood-transfusions-highlight-new-trend-in-healthcare/> [Accessed 3 December 2021].
- Sitammagari, K., Murphy, S., Kowalkowski, M., Chou, S., Sullivan, M., Taylor, S., Kearns, J., Batchelor, T., Rivet, C., Hole, C., Hinson, T., McCreary, P., Brown, R., Dunn, T., Neuwirth, Z. and McWilliams, A., 2021. Insights From Rapid Deployment of a “Virtual Hospital” as Standard Care During the COVID-19 Annals of Internal Medicine, 174(2), pp.192-199.
- Benson, K., Balducci, L., Milo, K., Heckel, L. and Lyman, G., 1996. Patients' attitudes regarding out-of-hospital blood transfusion. Transfusion, 36(2), pp.140-143.
- Ramaswamy, A., Yu, M., Drangsholt, S., Ng, E., Culligan, P., Schlegel, P. and Hu, J., 2020. Patient Satisfaction With Telemedicine During the COVID-19 Pandemic: Retrospective Cohort Journal of Medical Internet Research, 22(9), p.e20786.
The provision of a safe and secure supply of transfusible red blood cells (RBC) is a major global health concern, and according to WHO estimates, the world's population will grow by 25% by 2050. The haemato-oncology patients who require chronic blood transfusions will be the ones who suffer the most as a result of blood bank shortages. Due to insufficient stockpiles for the ever-growing population, PRBC infusions acquired from Whole Blood (WB) donors will be ludicrous by 2050, and the developing Ultra-High-Yield Manufacture of Red Blood Cells from Haematopoietic Stem Cells (HSC) will replace it.
The manufacture of Red Blood Cells by HSC will be a game-changer in the field of transfusion medicine and haematology, as it will be able to balance the growing demand for RBC by 2050. Haemato-oncology patients' reliance on WB donors will decline and eventually disappear. For this strategy to work, it must overcome a number of significant obstacles. At its most basic level, this is about the vast quantities of cells that are required: is there sufficient biological capacity, and can RBC be produced on a massive scale? While it has been established that up to five units of RBC can be produced from a single donation of haematopoietic stem cells from umbilical cord blood (UCB), such yields are insufficient to meet demand, and existing culture methods are unsuitable for large-scale production.
Using a well specified culture media, a robust ultra-high-yield RBC expansion technique capable of producing over 500 units of RBC per UCB donation. RBC can be produced efficiently in agitated bioreactor systems, suggesting that there are no fundamental limitations to RBC production on a large scale. This is the future of PRBC supply to needy patients, and by 2050, it will most likely replace WB donors.
The theme for the 2021 Crucible Prize was 'What lessons can haematology learn from others?' The winner was Amy Cooper.
On the day that you started on your training path to where you are today, you unwittingly started on a journey to learn the art of a new language – the language of medicine. From there you have now flourished into someone who uses this complicated language fluently and expertly. This skill took years, perhaps decades, to truly master. Medical jargon allows for efficient and clear discussions to be had between medical professionals and is critically important in this respect.
Now imagine that you are a person who has suddenly become very unwell and you are being immersed into this language with absolutely no prior training or interest in the subject. In fact, you wish you didn’t have to hear any of this. You feel really ill – the worst you’ve ever felt in your life - and just want to go to sleep and let this all wash over your head. You’re being hit with a barrage of scary-sounding words that you don’t know. They said “acute” - you think that means painful… or does it mean small? You don’t even have the energy to ask.
Linguistics theorises that jargon has two main effects, the first being to increase efficiency of communication. However, the second is to exclude outsiders who do not have prior understanding of the topic being discussed. This unfortunate side-effect is causing a rift between haematologists and patients which can only be bridged by conscious attempts to simplify communication based on our audience.
As haematological treatment options become more plentiful and advanced, the language we use becomes more complicated by the day. I propose that haematology learns this simple lesson of the unwanted effects of jargon to allow patients to join the conversation with us.
“It is trite law that in general a doctor is not entitled to treat a patient without the consent of someone who is authorised to give that consent”1. What constitutes valid, informed consent? In 2015, an obstetric case (Montgomery v Lanarkshire Health Board) redefined the law on consent and rejected previous case law and by inference medical paternalism2. Should haematologists take heed from this lesson learnt on the labour ward?
Within haematology, certain conditions carry such a high untreated morbidity and mortality that treatment is clinically imperative. However, equipoise exists in many circumstances, for example in the context of low-grade disorders, palliative treatment, or where research evidence does not provide clarity to guide therapeutic choice. Haematology is a field of rapidly evolving treatments, adding complexity to decision-making.
Fundamentally, informed consent requires knowledge of the indications and material risks of proposed interventions. The National Chemotherapy Board provides guidance3 relating to systemic anticancer treatment and has recently collaborated with Cancer Research UK to publish regimen-specific consent forms providing comprehensive patient information.
However, a thorough, signed consent form is simply one component. Patients vary in their desire for information and involvement in choices regarding their care, but evidence suggests one third of haemato-oncology patients are dissatisfied with their role in decision-making4,5. “Shared” or “supported” decision-making is increasingly recognised as crucial in promoting patient autonomy and enabling valid consent. Shared decision-making involves the collaborative consideration of evidence-based information alongside patients’ own priorities and values. It has been promoted by both the Royal Colleges of Obstetricians and Gynaecologists, and of Surgeons, in response to the Montgomery ruling6,7 and is highlighted in the current draft revision of GMC consent guidance. Should we follow in our surgical colleagues’ footsteps to focus training and resources to ensure that our patients have the best opportunity to be involved in decision-making?
- Re R (A Minor) (Wardship: Consent to Treatment)  Fam 11 CA
- Montgomery v Lanarkshire Health Board  UKSC 11
- UK Chemotherapy Board (2018). Consent for Systemic Anti‐Cancer Therapy (SACT). URL https://www.cancerresearchuk.org/sites/default/files/consent_guidance_doc_v2018-06.pdf
- Rood JA, Nauta IH, Witte BI, Stam F, van Zuuren FJ, Manenschijn A, Huijgens PC, Verdonck‐de Leeuw IM, Zweegman S. Shared decision‐making and providing information among newly diagnosed patients with haematological malignancies and their informal caregivers: Not “one‐size‐fits‐all”. Psycho‐Oncology. 2017 Dec;26(12):2040-7.
- Sullivan KH, Toscani M, Poretta T, Patzke C, Korattyil T, O’Malley D, Gonzalez V, Barone J, Evens AM. Shared decision making in cancer treatment: findings from a large survey of lymphoma patients and survivors. Abstract at: American Society of Hematology Annual Meeting; 2019 Dec 7-10; Orlando, FL
- Royal College of Obstetricians and Gynaecologists (2016). Providing Quality Care for Women: A Framework for Maternity Service Standards.URL https://www.rcog.org.uk/globalassets/documents/guidelines/working-party-reports/maternitystandards.pdf
- Royal College of Surgeons (2018). Consent: supported decision-making. A guide to good practice. URL https://www.rcseng.ac.uk/-/media/files/rcs/standards-and-research/standards-and-policy/good-practice-guides/new-docs-may-2019/rcs-_consent-supported-decision-making.pdf
Increasing awareness led to closer integration between clinical haematology and specialist palliative care (SPC) services. However, with <50% of haematology patients being referred to SPC, they remain less likely to receive palliative care or hospice services than those with other cancers. This is despite haemato-oncological patients having a substantial illness burden, poor quality of life (QoL), and aggressive care at the end of life with greater likelihood of dying in hospital.
Many barriers to timely SPC referrals have been identified, including unpredictable disease trajectories, inaccessibility to often fragmented services and ill-conceived physician perceptions. However, haematology can learn one thing from oncologists and palliative care physicians – that SPC is not synonymous with end-of-life care. Rather, SPC describes a philosophy of care, working with the other patients’ doctors to provide an extra layer of support. Aside from managing a variety of symptoms including: pain, mucositis, dyspnoea, fatigue, nausea, constipation, and diarrhoea, palliative care specialists also help patients engage in emotional work to facilitate coping, accepting, and planning.
The emphasis is on the well-being of patients and families at any point along their disease trajectory, regardless of their illness state. Mounting evidence suggests that earlier SPC input results in better outcomes. Three seminal, well-designed, randomised controlled trials have clearly established the feasibility and benefits of integrating early palliative care concurrently with standard oncology care2. Also, various other solid tumour studies documented: reduced symptom burden, better QoL, improved depression scores4,, higher mean scores for global health with better emotional and social functioning, and even significantly longer survival4,5. Early SPC referral decreased receipt of aggressive interventions at end-of-life and significantly lengthened duration of hospice care.
Haematology should take a page from Oncology and appreciate the scope for major research in this area. Hopefully, this will lead to earlier SPC intervention for our patients.
 Howell, D.A. et al., (2015) Variations in specialist palliative care referrals: findings from a population-based patient cohort of acute myeloid leukaemia, diffuse large B-cell lymphoma and myeloma. BMJ Supportive & Palliative Care. 5:496–502.
 Thienprayoon, R. and LeBlanc, T. (2015) When and why should patients with hematologic malignancies see a palliative care specialist? American Society of Hematology – Hematology 2015. 479-483.
 Jacobsen, J. et al., (2011) Components of early outpatient palliative care consultation in patients with metastatic non-small cell lung cancer. J Palliat Med. 14(4):459-464.
 Bakitas, M. et al. (2009) Effects of a palliative care intervention on clinical outcomes in patients with advanced cancer: The Project ENABLE II randomised controlled trial. JAMA. 302(7):741-749.
 Temel, J.S, et al. (2010) Early palliative care for patients with metastatic non-small-cell lung cancer. New England Journal of Medicine. 363(8):733-742.
 Rugno, F.C., Paiva, B.S. and Paiva, C.E. (2014) Early integration of palliative care facilitates the discontinuation of anticancer treatment in women with advanced breast or gynecologic cancers. Gynecol Oncol. 135:249-254.
‘The mind is such a fragile thing. How can someone begin to heal physically if they are mentally broken?’
The haematology landscape has undergone revolutionary transformations; however, we often neglect the mental and social-health needs of our patients and carers throughout their journey from diagnosis to recovery and beyond.
The scale of the problem is significant. Anxiety and depression are 3-4 times more likely where physical health issues co-exist. 30% of patients with a long-term condition, including many with haematological conditions, will have a mental health problem1 and they have poorer outcomes when they have a blood cancer2. Evidence supporting psychological services within haemato-oncology is summarised in NICE guidance3 and more recent research4. Further, specialist psychiatric care is necessary to manage complex treatment effects and drug interactions, alongside other issues5.
Many haematological services already attempt integrated ‘Mind and Body’ care, with psychology or counselling services available for some groups.
Is this sufficient? Evidence suggests more is needed to care for mental and physical needs equally and simultaneously, developing integrated Mind and Body service ‘whole person’ models.
This necessary shift would see routine mental health and wellbeing screening for all patients on every haematology pathway, together with clinically appropriate, personalised responses.
An enhanced Mind and Body programme has potential to transform patient experience, enabling optimised psychological, social, and clinical care concurrently.
A compelling case supports transformation of physical, mental, and social care delivery across haematology pathways, but requires skills derived from a team of specialist psychiatrists, psychological therapists, and social workers. This multi-professional collaboration embedded within routine haematological care offers a unified focus to benefit patient experience, outcomes, and wellbeing.
Haematology has much to learn from others and embedding a Mind and Body team within haematology will create a culture shift, departing from conventional compartmentalised care to a truly holistic model.
- Albert L. Siu, MD, MSPH; and the US Preventive Services Task Force (USPSTF). Screening for Depression in Adults. USPSTF Statement. JAMA. 2016;315(4):380-387. doi:10.1001/jama.2015.18392
- Kisely S, Crowe E, Lawrence D (2013) Cancer-related mortality in people with mental illness. JAMA Psychiatry
- Improving Supportive and Palliative Care for Adults with Cancer (2004) NICE
- Patient Need: Mapping the needs, experiences and outcomes of people affected by blood cancer (April 2015), accessed https://bloodwise.org.uk/mail/files/patient_need_phase_one_findings_report.pdf on 24/11/15
- Hodgkiss A, (2016) Biological Psychiatry of Cancer and Cancer Treatment. OUP.
The theme for BSH Virtual 2020 was 'What lessons learnt during the COVID-19 pandemic should change future practice in haematology?' The winner was Joshua Bomsztyk.
As we sit in the exacting classroom of COVID-19, with a ferocious and uncompromising viral teacher, the question of ‘lessons learnt’ might be considered premature. As we embark on a probable second wave and beyond, a particular lesson has stood out and should remain embedded in our psyche.
Undeniably, patient safety is the primary focus of our care. Haematologists are used to the idea of finely balancing the risk of treatment versus undesirable consequences. This pervades every decision surrounding chemotherapy, transfusion or anticoagulation. The benefit vs. risk conundrum.
The risk of a respiratory virus is also well recognised as the BSH guideline would attest[i]. With a mortality of up to 33%[ii] in the context of allogeneic transplant, the impact of community acquired respiratory viruses (CARV) should not be underestimated.
However, the concept of social distancing and hospital avoidance have not been considered as preventative strategies prior to COVID-19. The delivery of haematology services had shifted to large volumes of patients attending outpatient clinics and day units for review and treatment.
The lesson of COVID-19 ought to be a focus on hospital avoidance. The design of newer therapies should focus on this strategy. The development of oral and subcutaneous therapies should not be merely seen as a convenience but as a patient safety issue. COVID-19 has reminded us that hospitals are dangerous places. The challenge is to progress these novel working styles for the sake of patient safety.
[i] Fiona L Dignan et al. BCSH/BSBMT/UK clinical virology network guideline: diagnosis and management of common respiratory viral infections in patients undergoing treatment for haematological malignancies or stem cell transplantation. April 2016
[ii] Versluys AB, Boelens JJ. Morbidity and Mortality Associated With Respiratory Virus Infections in Allogeneic Hematopoietic Cell Transplant: Too Little Defense or Harmful Immunity? Front Microbiol. 2018;9:2795. Published 2018 Nov 21. doi:10.3389/fmicb.2018.02795
Limitations of treatment and escalation decisions on admission during the COVID-19 outbreak were a pertinent discussion with haematology patients undergoing chemotherapy and urgent stem cell transplants. During the peak of COVID-19, it was made clear to patients that there may not be intensive care capacity if they become critically unwell. This was of course a very difficult conversation for patients and staff.
This poses the question – should we be having these conversations with patients during the treatment consent process, involving ceilings of care and DNA-CPR discussion and should it be routinely discussed to try and normalise the conversation to prevent the last minute panic when a patient deteriorates?
What would be the benefits of this?
- Prevent difficult conversations with family members should a patient deteriorate. Patient and families to have time to discuss wishes in the event of an emergency situation
- Staff caring for the patient would have a clear pathway for ceilings of care treatment and if a patient was to deteriorate out of hours, there would already be a plan of care in place
What would be the disadvantages?
- Taking hope away from patients
- So many patient cohorts – one rule doesn’t fit all
What process would need to take place?
- Absolute agreement by consultant teams
- CNS support
- Ward staff support
- Clear documentation coherent with inpatient and outpatient communication
- Consistency in care
Conversations with patients about haematological conditions tend to air on the way of positivity and often, we avoid the elephant in the room – Am I going to die from this disease? Often, patients look to us as health care professionals to be frank and truthful about the outlook and we believe that this is an area of practice that as a group of haematology professionals we can all learn from for future practice.
The COVID-19 pandemic has disrupted clinical research worldwide, affecting up to 732,176 participants across England. Many are haemato-oncology patients, who were shown to be particularly vulnerable to COVID-19 infection, and in need of shielding. Self-isolation and physical distancing measures inevitably led to most clinical trials halting recruitment, with actively enrolled patients either having their treatment modified, paused or stopped altogether due to difficulties in continuing under lockdown conditions. Various guidelines were issued at unprecedented speed,, to help stakeholders better manage trials during this pandemic – striking a balance between patient safety, maintaining trial integrity, and ensuring adherence to good clinical practice standards.
Remote healthcare access and service delivery was encouraged. Trial sponsors adapted protocols to facilitate remote assessment via telephone/video conferencing and performing investigations outside the site and in the patient’s local community with more flexible test scheduling. Despite reluctance in allowing patients to self-administer subcutaneous chemotherapy at home, investigational medicinal products were sometimes delivered through community facilities like Healthcare at Home, with courier services used to distribute oral medications, including cytotoxics. Wider adoption of electronic case report forms (eCRF) replacing paper versions enabled faster data collection, preserving data integrity through more efficient data cleaning and improved data management processes.
Although meant to be temporary, many physicians and patients hope that some of these adaptations continue beyond the pandemic. Also, longstanding concerns that clinical trial populations insufficiently resemble real-world patients can be addressed by having more inclusive patient-centric study designs that better reflect real-world treatment provision and maximise translatability to routine practice.
The risks posed to haematology patients by COVID-19 demand rapid structural changes in healthcare delivery, with positive trends encouraged to continue long-term. Given the considerable uncertainty around duration of restrictions, an immediate critical reassessment of trial methodology is essential to ensure resilience in clinical research and optimise patient-centred care.
 National Institute for Research Health (NIRH) Annual Statistics. Available from: https://www.nihr.ac.uk/about-us/our-contribution-to-research/research-performance/annual-statistics.htm [Accessed 10th September 2020]
 The Association of the British Pharmaceutical Industry. Clinical Trials – How the UK is Researching Clinical Trials of the Future (Autumn 2019). Available from: https://www.abpi.org.uk/media/7607/rmi-0128-0919-clinical-trials-report.pdf [Accessed 10th September 2020]
 Williamson E.J., Walker A.J., Bhaskaran, K. et al. Factors associated with COVID-19-related death using OpenSAFELY. Nature. 2020; 584: 430–436. Available from: https://doi.org/10.1038/s41586-020-2521-4.
 Van Dorn, A. COVID-19 and readjusting Clinical Trials. The Lancet. 2020; 396(10250):523-524.
 European Medicines Agency and Heads of Medicines Agency. Guidance on the Management of Clinical Trials During the COVID-19 (Coronavirus) Pandemic. Version 3 (28/04/2020) Available from: https://ec.europa.eu/health/sites/health/files/files/eudralex/vol-10/guidanceclinicaltrials_covid19_en.pdf [Accessed 28th August 2020].
 European Medicines Agency. Points to consider on implications of Coronavirus disease (COVID-19) on methodological aspects of ongoing clinical trials. EMA/158330/2020 Rev. 1 3 (26 June 2020). Available from: https://www.ema.europa.eu/en/documents/scientificguideline/points-consider-implications-coronavirus-disease-covid-19-methodologicalaspects-ongoing-clinical_en-0.pdf. [Accessed 28th August 2020].
 Medicines and Healthcare products Regulatory Agency. Managing Clinical Trials During Coronavirus (COVID-19). Available from: https://www.gov.uk/guidance/managing-clinicaltrials-during-coronavirus-covid-19 [Accessed 28th August 2020].
 Doherty G.J., Goksu M. and de Paula B.H.R. Rethinking cancer clinical trials for COVID-19 and beyond. Nature Cancer. 2020; 1:568–572. Available from: https://doi.org/10.1038/s43018-020-0083-x
Responding to the difficult and challenging time that COVID-19 pandemic has brought to healthcare provision, such as difficulties to provides regular treatments to high risks and vulnerable transfusion dependent thalassemia patients during the national lockdown.
It became extremely concerned for our several thalassemia patients with complex medical problems that are considered high risk to travel to Whittington hospital clinics or outpatient Units for their regular scheduled transfusion. Many of these high risk patients were living far away from Whittington hospital, from 2 to 100 miles away. This became a serious problem for the haematology team to maintain the regular essentials treatment for these patients at this critical National lockdown time when they were instructed to be shielding at home from March 2020.
After a department meeting to discussed this problem, a contingency plans was developed and agreed to consider providing 'Home transfusion' in order to deliver the essential health care needs for the high risk shielding thalassemia patients.
It became fully cleared that administering blood at home to the high risk thalassemia patients may be possible but can also be challenging.
Home transfusion service is very uncommon practice in the United Kingdom. However, this practice has been taking place in other countries. Therefore, COVID-19 pandemic triggered the needs to establish home transfusion services at Whittington hospital in order to provide the necessary treatment for our high risk thalassemia patients shielding at home.
Fourteen patients were identified and enrolled on the service. Since 24th March 2020 almost 200 home transfusions had taken place uneventfully. Patient’s care was maintained in their safe environment and the level of patient’s satisfaction remained high.
There is good evidence to support home transfusion service may change future haematology practice.
The COVID-19 pandemic brings challenges to delivering clinical care due to a range of factors: the generally immunocompromised patients, the shielding requirements, the need to protect those who had to receive treatment in-person and the staff who continued working. As the pandemic first gathered momentum, so did emails communicating clinical decisions to rationalise care. One unsurprising decision was for treatments which only prolong progression-free survival to be stopped. A comment from a colleague struck a chord, “well at least now we will know if as haematologists we are doing more harm than good”.
The concept of progression-free survival remains a double-edged sword. It has driven the innovation for new treatments in haematological diseases, of which a number are chronic. On the other hand, it has made haematologists focus on intervention that can be offered, rather than whether we should. Intervention almost always appear more attractive than not. And this is inevitably what is needed to prolong progression-free survival. Interventions include increasing the visits we expect patients to attend both in clinics and treatment appointments. The pandemic is an unintended opportunity for us to re-evaluate what the definition of haematological care and quality of life is, weighing up the additional time, costs, travel and exposure our patients take in order to access the care we recommend. We should pause and consider the impact even one routine clinic appointment has on our patients; a whole day often, waiting, when they could have been picking up their grandchildren, helping their sister run their new business, hiking up Snowdonia or caring for their spouse with metastatic cancer. Only time will tell, in our strive to offer more, whether we are doing good and not harm. Perhaps our patients’ attitudes to the rationale of the treatment they receive will evolve too.
The theme for the 2019 Crucible Prize was 'How can haematology change the world?' The winner was Jennifer Darlow.
Haematology, more than many specialities, manages patients with compromised immune systems (e.g. neutropenic, bone marrow transplant patients). These patients regularly contract infections and consequently receive broad spectrum antibiotics. This includes carbapenems, particularly in the context of rising antimicrobial resistance and recent piperacillin-tazobactam shortages.
In the last decade the emergence and spread of carbapenem resistance presents antimicrobial dependent medicine with an unprecedented crisis. Globally, carbapenem resistance is rising – in parts of India, resistance rates are above 50%. Even in the developed world, carbapenem resistance is a growing problem, costing millions and leading to patient mortality. This is compounded by the fact that the new antimicrobial pipeline is sparse.
Widespread use of carbapenems contribute to this problem, by providing selection pressure that allows resistant organisms to flourish. Although haematology uses a relatively small quantity of antibiotics, its intensive use of carbapenems drives resistance disproportionately. Haematologists are therefore contributing to the aforementioned antimicrobial resistance situation. This is self-defeating in the medium-to-long term. If carbapenem resistance continues to be encouraged, immunosuppressive therapeutic interventions for haematological conditions, such as bone marrow transplant, will be unviable. Haematology is changing the world by driving a global crisis from which it will be difficult to return.
There are strategies that we can adopt to help avoid this nightmare scenario:
- With close collaboration with infection specialist colleagues, we can alter our prescribing habits to reduce antimicrobial resistance selection pressure whilst still treat patients appropriately.
- Wider and more consistent use of diagnostics, along with development and adoption of new diagnostics, can allow targeting of patients who require antibiotics and reduce unnecessary prescriptions for those that don’t.
- We can encourage investigation into the use of broad-spectrum antibiotic in haematological patients, to determine where it is necessary and where narrow therapy can be safely used instead.
Anaemia represents a huge global burden of disease. In 2010, around one third of the world’s population was affected by anaemia, with an estimated 50% of those cases attributable to iron deficiency. The majority of these cases of iron deficiency anaemia (IDA) occur in low- and middle-income countries. IDA primarily affects children and women, due to increased iron requirements secondary to growth, pregnancy or menstrual loss. Iron deficiency in children can affect both physical growth and cognitive performance, which will potentially have a lifelong impact. Thus, iron supplementation is recommended to ensure children reach their full potential. Indiscriminate use of iron supplementation, however, has been linked to increased mortality from malaria and other infections, notably diarrhoeal disease.
Consequently, there is a need to find a reliable diagnostic test to discriminate between IDA and anaemia secondary to other causes. While there are a variety of tests currently available to diagnose anaemia (including serum haemoglobin and ferritin), there remain challenges with their use and/or interpretation, especially in the low- and middle-income setting. Serum hepcidin has been posited as a potential alternative to current tests. Hepcidin plays a key role in iron regulation; low expression increases plasma iron concentrations while high expression decreases plasma concentrations. Recent research in both developed and developing countries has demonstrated that serum hepcidin concentration may potentially be able to differentiate IDA from anaemia of inflammation. Further research is still required before hepcidin becomes widely used as a marker for IDA. A reliable hepcidin point-of-care test still needs to be developed and there must be clinical trials comparing hepcidin to the currently used test., Hepcidin does, however, have the potential to represent the “holy grail” of iron deficiency diagnostics: the ability to identify children most likely to benefit from, and least likely to be harmed by, iron supplementation.
The United Nations’ Sustainable Development Goals (SDGs) set in 2015, include the attainment of universal health coverage, as well as a reduction in mortality from non-communicable diseases (NCDs) including cancer, and conditions relating to pregnancy and childbirth.1 These issues disproportionately affect Low and Middle Income Countries (LMICs) where 78% of deaths from NCDs2 and 99% of maternal deaths occur.3 Around 25% of these maternal deaths may be due to lack of blood transfusion4 and the provision of oncology treatment is often dependent on the availability of safe transfusion. There is huge inequality in blood availability worldwide. Donation rates in higher income countries are around 32 per 1000 population per year, compared to only 4 per 1000 population per year in lower income countries.5
Increasing investment and development of new technologies and drugs is significantly improving outcomes and survival in higher income countries. However, for these benefits to be realised, countries require functioning health systems with adequate access to reliable pathology and laboratory services. This is often lacking in lower resource settings.2 6 Haematology is an essential component of laboratory and pathology departments, enabling accurate diagnostics and safe transfusion.2
There is a need to advocate for the prioritisation of laboratory and transfusion services in health system planning and funding. Development of training programmes for biomedical scientists and post-graduate physicians will enable the improvement of laboratory and transfusion services to provide support for developing health systems.2 7 Haematology services can help reduce deaths from lack of blood, improve the process of accurate diagnostics and support developing oncology programmes. Haematologists can help through advocacy and support for training in low resource settings.
In order for the SDGs to be met, significant improvements in laboratory and transfusion services worldwide are essential. This is how haematology can help to change the world for the better.
- Publications UN. Sustainable Development Goals Knowledge Platform [Available from: sustainabledevelopment.un.org accessed 21/11/2018.
- Wilson ML, Fleming KA, Kuti MA, et al. Access to pathology and laboratory medicine services: a crucial gap. Lancet 2018;391(10133):1927-38. doi: 10.1016/s0140-6736(18)30458-6 [published Online First: 2018/03/20]
- WHO. Trends in maternal mortality: 1990 to 2015. Geneva, 2015.
- Bates I, Chapotera GK, McKew S, et al. Maternal mortality in sub-Saharan Africa: the contribution of ineffective blood transfusion services. BJOG : an international journal of obstetrics and gynaecology 2008;115(11):1331-9. doi: 10.1111/j.1471-0528.2008.01866.x [published Online First: 2008/10/01]
- WHO. Global status report on blood safety and availability 2016. Geneva, 2017.
- Bates I, Maitland K. Are Laboratory Services Coming of Age in Sub-Saharan Africa? Clinical Infectious Diseases 2006;42(3):383-84. doi: 10.1086/499368
- Horton S, Sullivan R, Flanigan J, et al. Delivering modern, high-quality, affordable pathology and laboratory medicine to low-income and middle-income countries: a call to action. Lancet 2018;391(10133):1953-64. doi: 10.1016/s0140-6736(18)30460-4 [published Online First: 2018/03/20]
“How can haematology change the world?! Devastatingly. It can take the world you thought you knew and give it back to you completely altered.
“After the diagnosis our world centred on one idea: Cure the leukaemia. ‘Chemotherapy will put it into remission, but cannot cure it – she needs a bone marrow transplant.’ (Let’s go for it!) ’She needs a plastic line in her vein.’ (Sure, whatever you say!) ’She needs weekly blood tests.’ (Okay, no worries.) ’She needs platelets twice a week.’ (But it’s a two-hour round trip!) ’We need to admit her for intravenous antibiotics.’ (What, again?) ’She needs to take these tablets – sorry there are so many.’ (Her mouth is so dry she can hardly swallow!) ‘She seems to really benefit from having you here.’ (I know, I’m trying.) ‘Look after yourself! She needs you well-rested.’ (I know. I’m trying.)
“What have you done to the woman I married? Who is this fragile person I sit with, accompanying to blood tests and clinic appointments, visiting daily on the wards? What are we fighting for, her and me? My love, whose hand I hold while she fades away on an intensive care unit? Was it all for nothing?”
When it comes to allogeneic transplantation, haematology changes the world utterly. And as haematology doctors, we offer a cure, but we do not elaborate on the price that will be paid.
We need to understand how haematology can change the world of every one of our allograft patients: our therapies have physical, social and emotional impact, and we must characterise these better in order to mitigate against them. We need to better predict outcomes to minimise failed allografts and ultimately, we need cleaner interventions so that we can leave our patients’ worlds unchanged.
Genomics is changing the medical world, and as haematologists we are at the forefront of driving this field from the bench to the bedside bringing genomic era diagnosis and treatments to our patients around the globe.
Haematology Malignancy Diagnostic Service (HMDS) laboratories provide ever-increasing insight into the genomic complexity of our patient’s cancers, and allow us to prescribe new medication targeted to their cancer, for example, FLT-3 inhibitors in acute myeloid leukaemia (1).
In low- and middle-income countries (LMICs) GeneXpert PCR machines are enabling molecular diagnosis of CML (2). Therefore, drug funding can be released for patients who would have a prognosis of a few years without treatment and transform them into a functional chronic disease patient, with a life expectancy of near normal.
Genomics is also advancing the field of blood transfusion, where haematology has traditionally had the bulk of its global impact, by utilising next generation sequencing to identify extended red cell phenotypes. This technology has the potential to increase the efficiency of identification of rare blood types within our blood banks and save more patients with complex allo-antibodies (3).
Gene therapy has recently been used with success in Haemophilia B, sickle cell disease and β-thalassaemia. Liver-directed gene therapy has reduced the frequency of bleeds (4) in Haemophilia B. Sickle cell and β-thalassaemia patients receiving lentiviral transformed autologous transplantation of a normally functioning β-globin gene have experienced cessation of sickle crises (5) and achieved transfusion independence (6). These treatments could become a ‘one-hit-wonder’ curative therapy, which may also be useful in LMICs where access to chronic treatment can be logistically fraught, and associated with a high cumulative cost.
As haematologists we are the clinical leaders of the genomic era, and by pushing the genomic medicine frontier we can help create a world with a lower burden of life-limiting and chronic disease.
- NIHR Horizon Scanning Research and Intelligence Centre, Quizartinib for FLT3-ITD positive acute myeloid leukaemia – second line, June 2016, http://www.jo.nihr.ac.uk/wp-content/uploads/migrated/Quyizartinib-June16.pdf, accessed 30/11/2018.
- The Max Foundation, The Max Foundation-Cepheid Collaboration Agreement Improving clinical outcomes by strengthening diagnostics capacity, September 2015, https://themaxfoundation.org/wp-content/uploads/reports/The-Max-Foundation-Cepheid-Collaboration-Agreement-2015.pdf, accessed 30/11/2018
- Wu et al, Blood group genotyping goes next generation: featuring ABO, RH and MNS, ISBT Science Series, March 2018, 13(3):290-297.
- Miesbach et al, Gene therapy with adeno-associated virus vector 5–human factor IX in adults with hemophilia B, Blood 2018 131:1022-1031.
- Ribeil et al, Gene Therapy in a Patient with Sickle Cell Disease, The New England Journal of Medicine, March 2017, 376:848-855.
- Thompson et al, Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia, The New England Journal of Medicine, April 2018, 378:1479-1493