Monogenic diabetes is a rare condition caused by a single gene mutation. Estimates reveal at least 80 per cent of these cases remain undiagnosed, which is impaired by the high incidence of diabetes in the region. In the Middle East and North Africa, 192,500 children and adolescents live with Type 1 diabetes. The prevalence of diabetes in the UAE stands at a staggering 16.3 per cent compared to 9.3 per cent worldwide .

The first step in managing monogenic diabetes is identifying the genetic mutation responsible which involves genetic testing. There are over 30 different genes that cause this condition. Mutations in HNF1A, HNF4A and HNF1B were identified in the late 1990s, mutations in KCNJ11 and ABCC8 causing neonatal diabetes were identified in the mid-2000s and new genes causing monogenic diabetes continue to be discovered.

Related: Advanced technologies and data are key to driving transformation of healthcare

Depending on the genetic mutation, monogenic diabetes may respond differently to medications. In some cases, oral medications may be sufficient to manage blood sugar levels and in others, insulin may be necessary. Regular monitoring and lifestyle modifications also play a significant role in managing monogenic diabetes.

Training nurses for monogenic diabetes care

One leading expert in the field who has made significant strides in monogenic diabetes is Nurse Margaret Shepherd, Associate Director of Nursing Research and Honorary Clinical Professor of Monogenic Diabetes at the Royal Devon University Healthcare NHS Foundation Trust. As the distinguished winner of the 2nd edition of the Aster Guardians Global Nursing Award, her journey in transforming the care for this rare condition emphasises the power of education and highlights the vast opportunities that exist to enhance the lives of patients. A substantial portion of her award prize, a generous US$250,000, is dedicated to supporting genetic testing globally.

Through her network of trained nurses and her commitment to global healthcare, she is contributing to reducing the diagnostic gap, improving the quality of care, and ultimately, changing the lives of patients.

“This type of diabetes affects around 3.6 per cent of those diagnosed below 25 years of age, however, it is initially misdiagnosed in around 80 per cent of cases. Ensuring the correct genetic diagnosis is crucial. Many patients, often initially treated with insulin injections, may be better treated with low doses of tablets depending on the genetic cause identified, leading to improvements in blood glucose levels and quality of life,” Nurse Margaret explained.

Related: Smart pens and insulin pump therapy for people with Type 2 diabetes

Nurse Margaret’s research, focusing on the UK’s paediatric diabetes population, revealed a 2.5 per cent prevalence of monogenic diabetes. Most were managed through tablets rather than insulin. A significant finding was a child under six months old with diabetes, referred to as neonatal diabetes, is highly likely to have a single gene change causing diabetes. Referral for genetic testing is crucial, as it can result in improved treatment options, potentially leading to better blood glucose control and quality of life.

To bridge this diagnostic gap and bring about accurate and timely diagnoses, Nurse Margaret has been a driving force and set up a national network of genetic diabetes nurses in the UK. The project ran from 2002 – 2021 and was successful in increasing referrals for genetic testing, confirming more cases, and ensuring correct treatment and follow-up of other family members.

“This aimed to train diabetes specialist nurses across the UK in monogenic diabetes and by using a model of ‘train the trainer’ enabled them to teach others across their regions about these rare genetic types of diabetes. We continue to offer virtual masterclasses and the training materials can be accessed for free by anyone across the world.”

Since its inception, around 4,500 patients in the UK have received a confirmed diagnosis of monogenic diabetes. Nurse Margaret’s mission continues as she focuses on establishing a global network of nurses passionate about monogenic diabetes who can seek support from experienced peers within the field

Back to Clinical

Over 100 million people are driven into poverty due to illness and the financial burdens of healthcare each year. This situation is particularly prevalent in remote areas where the absence of basic health infrastructure compounds the health challenges faced by the underprivileged. Access to healthcare is imperative in the fight against poverty, as strong health fuels economic development. In developing countries, efforts to provide affordable healthcare face challenges, with various financing models proving unsuccessful in reaching those who need it most. In this article, we examine how integrating microfinancing can enhance the potential for sustainable development, alleviating poverty in low-resource nations.

Several innovative models play important roles in ensuring fair access to essential services, especially for informal sector workers. The National Health Service used in countries like the United Kingdom, Belgium, Australia, and Germany, is funded through taxes or contributions, providing universal health coverage for all citizens. Elsewhere, community-based health insurance schemes, have shown promise but are impacted by low enrolment. Social Health Protection Programmes target vulnerable populations with subsidies or exemptions and Donor Funding and Grants for healthcare are vital for resource-limited nations.

Public-private partnerships collaboratively enhance healthcare financing, addressing healthcare challenges with a more comprehensive and sustainable approach. Microinsurance, designed for low-income individuals, offers coverage for specific healthcare services through partnerships with low premiums and simplified processes. Mobile-based health financing such as M-TIBA in Kenya and Aavaz Health in India, utilises mobile technology for premium payments and claims processing, to ensure convenient access to essential healthcare for those in the informal sector.

More recently, the evolution of blockchain-based microfinance systems is expected to have a significant impact on poverty alleviation and economic growth. Addressing the World Bank’s concern of 1.7 billion unbanked individuals, blockchain provides access to financial services without requiring a conventional bank account. Transactions are recorded on a public ledger to ensure transparency and the technology has the potential to bridge the financial inclusion gap by cutting out the middlemen. Despite regulatory challenges, technological constraints, and scalability concerns, blockchain is enabling accessible, affordable and transparent financial services for underprivileged populations.

Related: Sustainability through innovation is key to the future of healthcare

Long-term viability and sustainability challenges

Microfinancing for healthcare, while valuable, depends on factors including borrower repayment capacity. Reasonable and sustainable interest rates are crucial to prevent financial strain on borrowers, excessive rates may lead to financial burden and cause long-term harm. Successful microfinancing models often involve strong community engagement, and understanding cultural factors and specific healthcare needs is essential. Establishing partnerships with local healthcare providers, non-governmental organisations (NGOs) and government agencies can enhance the sustainability of these models.

Collaboration can lead to better integration with existing healthcare systems, improved service delivery and shared resources. Economic downturns, natural disasters, or unexpected events can impact borrowers’ ability to repay loans and pose a risk to financial stability. In addition, healthcare providers in disadvantaged areas can struggle with financial resources, impacting the quality of healthcare services. This in turn impacts infrastructure development and limits the ability to invest in essential medical equipment. Ensuring healthcare services remain affordable for the community is a critical challenge. Any high out-of-pocket expenses for patients can result in decreased utilisation of healthcare services. Providers need to invest in modern equipment and systems to deliver quality services, however these investments can strain financial resources and pose a challenge to sustainability.

International organisations and technology are important factors in supporting and scaling up microfinancing for healthcare. Multilateral institutions and NGOs can provide financial support, grants, or concessional loans to microfinance institutions. They can also offer capacity-building programmes to enhance the financial management and operational efficiency of these institutions. Technology integration includes promoting the use of digital platforms for loan disbursement, repayment and financial management which can streamline processes, reduce costs and improve the overall efficiency of microfinance operations. Data analytics and artificial intelligence can assess and manage risks in microfinance. Advanced analytics can help predict borrower behaviour, assess creditworthiness and develop risk mitigation strategies, thereby improving the overall sustainability of microfinance initiatives.

Related: Sustainable healthcare innovation drives change in the industry

Embedding healthcare funding into an established microfinance organisation is a unique way to support healthcare in many communities and reduce financial risks tied to poor health. Microfinance institutions (MFIs) are ideal, utilising their wide reach and relationships with clients and communities to make these financial mechanisms available to all. MFI-managed alternative health financing plans can significantly help the poor by breaking down barriers to healthcare access. They also contribute to the long-term sustainability of mutual health organisations (MHOs). By pooling health risks together, it lessens the financial strain on the poor caused by high healthcare costs, ensuring access to better healthcare services. Importantly, it provides the poor better access to healthcare without relying heavily on external sources for payment.

While microfinancing models for healthcare services can be effective, their long-term sustainability requires careful consideration of financial viability, community engagement, partnerships, regulatory compliance, and effective risk management. Regular evaluation and adaptation of the model based on feedback and changing circumstances are essential for long-term success.

References available on request.

Back to Management

Nephrology as a speciality was born when physician Richard Bright described chronic kidney disease symptoms and anatomical changes in the early 1800s, but we could only start following kidney patients in a more systematic way when creatinine by bioassays was easily available. When nephrologist Stewart Cameron described how reducing proteinuria by blood pressure control helped reduce the rate of decline of kidney function in the late 1970s it remained the therapeutic benchmark for many years. The tools used for kidney disease management mostly focused on reducing proteinuria hence the focus on the use of RAAS blockade to manage progressive proteinuria kidney disease.

Concurrently, the nephropathological descriptions of kidney disease were based on light microscopy features, we had diseases like minimal change disease, membranous nephropathy, focal segmental glomerulosclerosis, etc. We knew from our clinical experience that these diseases had heterogenic outcomes with some responding easily to therapy and some having delayed or no response.

A classic example was membranous nephropathy, which had a famous rule of thirds — 1/3 going to spontaneous remission, 1/3 progress, and 1/3 remained static — and for many years we did not know the reason for this. The treatment for membranous nephropathy for many years was broad-spectrum cytotoxic agents with high-dose steroids and this was only considered after three to six months of waiting period as we were hoping for spontaneous remission. There were some clinical and anatomical indicators to indicate those who go into remission spontaneously, but this was largely not reliable or reproducible.

Nephrology as a speciality had a breakthrough in 2009 with the discovery of antibodies that caused membranous nephropathy and since then there have been many such antibodies described. This led to treatment protocols where the use of antibody assays has been used to decide renal biopsy and treatments. These antibodies are now used for surveillance including post-renal transplantation.

In addition, the need for comprehensive screening for potential kidney donors has required us to undertake screening to look for any predisposition for kidney disease like APOL1 genotyping.

This led to major interest in developing biomarkers that help diagnose detect and predict kidney disease. A great example is the development of placental growth factor assays that help predict preeclampsia disease, which affects young women and predisposes them to poor maternal and foetal outcomes.

In addition, in this region where there is an explosive rise in kidney disease, the establishment of national genome projects in UAE, Qatar and Saudi Arabia, plus their unified national health records, will help us longitudinally follow patients and understand the reasons and predisposition for this rising kidney disease. In addition will help us deep dive into dose clusters of premature kidney disease and certain phenotypical features that occur in families.

Detection of circulating autoantibodies essential for diagnosis and follow-up

Dr. Gehad ElGhazali, MD, PhD, Professor of Clinical Immunology and Services, and Lead of the Diagnostic and Transplant Immunology laboratory at Purelab, and his colleagues from the lab worked to develop the UAE National calculated PRA calculator. This calculator opens opportunities to build a national allocation policy for deceased donors and develop a national waiting list.

In addition, his team supports nephrologists and rheumatologists not just from the Pure Health network but across the UAE healthcare system to manage patients with complex immune-mediated and genetic kidney disease.

Several autoantibodies have been identified as renal disease-associated biomarkers with some of them being possibly implicated in pathogenesis.

A great example since the discovery of a major target antigen in membranous nephropathy, there has been a radical change in how we manage this condition. Two autoantibodies that are directed against kidney-specific autoantigens in membranous nephropathy (M-type phospholipase A2 receptor, PLA2R and thrombospondin type-1 domain-containing 7 A, THSD7A) were identified. Anti-PLA2R autoantibodies are highly specific to primary membranous glomerulonephritis and are detected in about 70 per cent of patients, while anti-THSD7A were detected in a small percentage of primary membranous glomerulonephritis.

The detection of circulating autoantibodies is of importance in diagnosis and follow-up. Since autoimmune-mediated renal diseases can lead to end-stage renal disease, early diagnosis and management will improve long-term outcomes. Dr. Gehad and his team continue to support clinicians and academics in the UAE to help understand the reasons for this rise in kidney disease in the region.

Non-invasive omics approaches to reduce the need for renal biopsy

Autoantibody and immunoglobulin assays are valuable in the prediction, diagnosis, and monitoring of a range of immune-mediated kidney diseases. At Sidra Medicine, Dr. Mohammed Yousuf Karim, Chief of the Division of Hematopathology, and a Clinical Professor in Immunopathology at the College of Medicine, Qatar University, established the diagnostic Immunology laboratory, including a full range of enzyme immunoassay testing for connective tissue disease and vasculitis — important causes of glomerulonephritis leading to CKD. Another important cause of CKD in young people is type 1 diabetes (T1D). Immune testing includes GAD-65, insulin, islet antigen 2, and zinc transporter 8 antibodies. One or more of these 4-antibody panels are detectable in 96 per cent of T1D patients and may occur before clinical disease onset. These autoantibodies can also be present in relatives of T1D patients. In the Research Branch at Sidra Medicine, Dr. Ammira Akil is developing these autoantibody assays, with the plan to translate these into the diagnostic Immunology laboratory. The utility of autoantibodies extends to the selection of candidates for immunotherapy. Teplizumab, a monoclonal antibody binding to the CD3 ε chain is FDA-approved for T1D patients aged ≥8 years with stage 2 disease, able to delay onset of clinically diagnosed stage 3 T1D by a median of two years.

Polygenic risk scores involving HLA-typing for the prediction of T1D are now well established in large-scale European studies and are likely to soon enter the realms of clinical care. However, further research including non-European ancestries is necessary, and Dr. Akil is leading an international project at Sidra Medicine.

Traditional diagnosis and monitoring of renal disease are being challenged by more sophisticated “multi-omics” approaches, which are available in the research branch at Sidra Medicine. These technologies will likely enable more accurate diagnosis and improved stratification of prognosis and therapeutic response. Such methodologies include multiplex cytokine measurement, transcriptomics, multi-parameter flow cytometry, metabolomics, and proteomics. Such approaches can be applied on renal biopsy specimens, or non-invasively on urine as a window into the kidney. The latter is particularly applicable to disease monitoring, for example, where the use of urine protein-creatinine ratio is a relatively blunt tool that cannot reliably distinguish between ongoing inflammation and chronic damage. Dr. Karim foresees such non-invasive omics approaches may over time even start to obviate or reduce the need for renal biopsy.

Fostering collaborations to address unmet needs

Dr. Siddiq Anwar, Consultant Nephrologist and Associate Professor of Medicine at Sheikh Shakhbout Medical City (SSMC) and Khalifa University, concludes: “As we are beginning to understand the role of complex genetic variants to the predisposition of kidney disease and the role of antibodies in developing immune-mediated kidney diseases, then we can start tailoring medical treatment to specific disease processes and thereby optimising patient outcomes. In addition, we can define subgroups of patients who may and will not benefit from specific therapeutic strategies."

References available on request.

Back to Laboratory

In May 2023, long-read whole-genome sequencing (WGS), based on Pacific Bioscience’s Revio platform, was established at the Human Genetics Department of Bioscientia in Ingelheim, Germany. The Revio produces highly accurate so-called HiFi reads of 15,000-20,000 bases (15-20 kb). For comparison, the currently widely used short-read next-generation sequencing (NGS) tests, applied as gene-panel or whole-exome (WES) analysis, are based on reads of only 250 base pairs.

The addition of two – and soon a third – Revio platforms complements the portfolio at Bioscientia Human Genetics, which covers all areas and current methodologies in human genetics. These include:

• Cytogenetics for prenatal indications and congenital conditions.
• Tumour cytogenetics, e.g. for therapeutic guidance in haematological malignancies.
• Array of comparative genomic hybridization (aCGH) for submicroscopic detection of structural aberrations.
• Optical Genome Mapping (OGM), a recently introduced method for diagnosing even balanced structural aberrations at very high resolution.
• NGS on several high-capacity short-read sequencing platforms for WES and WGS.
• Genetic counselling, conducted by a highly experienced team of specialized MDs.

Finally unlocked: The dark matter of the human genome

For diagnosing rare diseases, the long-read approach will have several major advantages because it may uncover previously “hidden” mutations:

• Variants residing outside the protein-coding gene regions (approximately 15 per cent): These dead angles are not covered by current NGS tests and have thus far escaped detection. Many of these disease-causing aberrations will be deep-intronic and could soon be particularly amenable to splice-correcting therapy approaches.
• Complex regions overshadowed by highly homologous and pseudogene regions elsewhere in the genome become readable. This eliminates a major diagnostic gap: Some of these genome areas are mutational hotspots for conditions like blindness (the ORF15 exon of the retinal degeneration gene RPGR) and deafness (the STRC gene).
• Large structural variants have often been missed by sequencing because their range exceeds the size of “traditional” short reads. Long reads do uncover them, including balanced aberrations.
• Large repeat regions, whose expansions may cause neurological disorders such as Huntington’s disease and ataxia, can precisely be retrieved from the long reads.
• Methylation defects which may cause imprinting disorders like Angelman syndrome can be visualised on HiFi reads.

After the advent of NGS and its first introduction into routine diagnostics about a decade ago, this will be the next real quantum leap in human genetics

After in-depth validation with positive control samples for the above aberrations, the Bioscientia Human Genetics team has now shifted their tests for inherited sensory disorders (eye diseases, deafness – both representing conditions with high genetic heterogeneity) and cancer syndromes from short-read exome sequencing onto their two Revio platforms. Additional diagnostically challenging conditions like developmental delay represent prime candidates for this novel approach. As in 2011, when Bioscientia was among the first to apply NGS diagnostically, the company is again pioneering the diagnostic introduction of a novel ground-breaking methodology. This next quantum leap in human genetics enables scientists and medical geneticists at Bioscientia to unlock the remaining dead corners of the genome in one go – by a single test.

Long reads of “half-solved” cases with recessive disorders, that is patients with only one mutant copy of a respective gene, held surprises: In some, the “missing hit” was indeed in protein-coding regions – exons that had been well covered, but missed, by previous short-read sequencing. The lesson learned is: Long-read genomes provide better exomes – and in addition shed light on the dark corners.

Bioscientia has a long-standing cooperation with hospitals and healthcare providers in the Middle East. By offering long-read sequencing in this region, many patients with difficult-to-detect mutations will finally receive a genetic diagnosis, with important implications for their prognosis, recurrence risks and personalised medical management and therapy. First gene therapies have become available for retinal degeneration, and tumour patients are increasingly being treated based on their causative mutations. Both entities represent fields of particular scientific excellence at Bioscientia, reflected by two recent high-level publications on novel disease genes (Abdel-Salam et al., 2023; Nuzhat et al., 2023). The wealth of data from HiFi long-reads allows for deep dives where necessary – this may lead to the identification of novel genes not previously associated with a genetic condition.

Close cooperation between clinicians who initiate genetic analyses and staff at Bioscientia is considered very important. This ensures the best results because information on symptoms and/ or family history may make a major difference when it comes to interpreting complex genetic data. Bioscientia´s geneticists look forward to their Middle East cooperation partners joining them in entering new genetic territories.

References available on request.

Prof. Hanno J. Bolz is Head of Bioscientia Human Genetics, Ingelheim, Germany.

Back to Laboratory

Mezna Al Ali, representing the UAE Higher Colleges of Technology (HCT), was crowned the winner of the 2024 Scientific Poster Competition, which took place between Zabeel Hall 3 and Zabeel Hall 6 link on Tuesday.

Her submission was on the topic, “Prevalence and correlation of Transfusion-Transmitted Infections (TTI) with the distribution of ABO, Rh and Kell Blood Group Types among Blood Donors in Abu Dhabi, Al-Ain, and Al-Dhafra regions, UAE; A 5-Year Retrospective Study”.

In an exclusive interview with Al Ali, she expressed her desire to help the UAE enhance its ever-evolving preventative medicine sphere and hopes to shed more light on this specific topic.

“In the future, I hope to conduct larger studies with more representable information and have our work published in famous journals such as PubMed.”

Al Ali, who recently graduated and started work as a medical lab technologist, will receive a research grant of a value of up to US$3,000 from EXPRESSMED Diagnostics and Research. When asked about her win at the event, Al Ali said she was confident about securing first place. “It was expected, and I was very well prepared for this. I wouldn’t have achieved this without the support of my peers and family. I would like to thank them as well as HCT for making this happen.”

The second and third place was awarded to Mohammed Al Khamees, King Fahad Hospital, Al Hofuf, Saudi Arabia, and Irhum Syed Imtiaz from the University of Sharjah, UAE, respectively. Al Khamees’ presentation was on the “Haematological Characteristics of Patients with Sickle Cell Disease in Al Ahsa, Saudi Arabia”, while Imtiaz presented the “Effect of Candida auris Secretions on Human Monocyte-Derived Macrophages”.

The annual Scientific Poster Competition is a highly anticipated segment at Medlab Middle East that gives researchers a platform to present their work on some of the pressing topics affecting the laboratory sector.

Commenting on this, judge Dr. Carlo Kaabar, Medical Director — North at Purelab, said: “It is a great initiative by Medlab Middle East, and I believe it is a great way to encourage young scientists to display their work. Not everyone is comfortable getting on stage and giving a full lecture, but this opens the door for them to build towards that future. It gives them extra confidence as they get to speak for six minutes and answer a few questions about their research.”

Earlier this month, participants submitted a 300-word abstract aligned with a core focus area in advance — namely across the topics of Laboratory management, Lab Quality Management, Clinical Chemistry, Immunology, Haematology, Clinical Microbiology, Clinical Genomic Interpretation, Blood Transfusion Medicine, Histopathology, Sustainability in the Laboratory, and Nextgen Medicine. Complete with an introduction, objective and conclusion, participants are selected based on the relevance and clarity of their projects alongside scientific accuracy, clarity, and the potential impact on healthcare practices.

After a rigorous filter by an esteemed scientific committee, nine finalists were selected, and their research was displayed at the Medlab Middle East show for a chance to speak further on the project.

“Research, after all, is a very big part of the medical laboratory,” said Dr. Kaabar. “The healthcare landscape is changing, and there's an impact on the labs, when in fact, it should be the opposite where the lab should be impacting the healthcare because many clinical decisions are based on what happens in the lab. Competitions such as the Scientific Poster Competition at Medlab are designed to encourage young scientists especially but we open it up for other people as well,” he concluded.

Back to Laboratory

 

UAE-based senior college and university students majoring in medical laboratory sciences will engage in a battle of wits on February 8, in hopes of being crowned the ultimate champion. Known as LabQ, the quiz competition returns for its second edition this year to nurture young minds and reignite a passion for pathology and laboratory medicine. For the students, this would be a golden opportunity to not only demonstrate their holistic understanding of the field but also apply critical thinking and problem-solving skills under the spotlight.

Laboratory medicine can be considered a team sport, thanks to its features of multidisciplinary collaboration, the interdependence of roles, and communication skills. LabQ aims to bring these qualities to the forefront during the competition and equip students with skills ranging from seamless coordination to accuracy in knowledge and improved troubleshooting.

Additionally, LabQ extends itself as a platform for networking and collaboration, giving students a comfortable setting to interact with peers from other institutions as well as real-life laboratory professionals at the show.

The competing institutions are Gulf Medical University, Higher College of Technology, Liwa College and the University of Sharjah. The session is set to take place from 3pm to 5pm at the NextGen Room in Zabeel Hall 7.

Bringing the next big idea to the forefront, Labpreneur will open the floor to some of the world’s exciting start-ups and their inspiring journey to shape the future of laboratory medicine. Submissions took place earlier this year, and the selected contenders are:

• AIDENTIS: Aims to revolutionise dental diagnostics with cutting-edge AI-powered solutions (Kazakhstan)
• Enbiosis Biotechnology: Clinically proven AI-driven microbiome-based precision nutrition (UK)
• eTabeb: Free conventional mobile app for users to book and manage their medical appointments with healthcare facilities (KSA)
• IHealthScreen: Aims to develop novel, innovative software for retinal image grading and diagnosis of diseases and screen diseases for early detection (UAE)
• LinkiDoo: Known to be the first matchmaker between pharmaceutical brands and worldwide pharmaceutical distributors (France)
• MDBX Health: Aids patients with medication management, being connected to their physicians between appointments, and staying on track for a happier, healthier life (UAE)
• Phys: Features a combination of cutting-edge AR technology with the critical task of managing children's screen time (KSA)
• Xana Medical Ltd — Pocket Lab: Real-time at-home personalised health and wellness testing (UK)
• Ziagno: Enables access to primary healthcare by offering an innovative solution through AI-powered accurate diagnostics and personalised healthcare services (UAE)

Related: Medlab Middle East 2023 kicks off its very first Labpreneur competition

Each representative will receive four minutes to share their pitch to an esteemed panel of judges featuring industry leaders Sion Hau, Ventures Associate, Plug and Play Abu Dhabi; Zeina Youseff, Operations Support Manager, Rainmaking; Unmesh Lal, Global Director, Healthcare & Life Sciences, Frost & Sullivan; Dr. Sadyk Gusniev, MD, MBA, HealthTech Expert and Researcher; and Dr. Chethan Belludi, Consultant Physician, PureLab, Abu Dhabi.

They will also receive an additional five minutes for a Q&A session to showcase their progressive ideas for a chance to win the prestigious title, a complimentary Exhibition Stand Space at Medlab Middle East 2025.

Labpreneur Time: 11am-12.30pm Venue: Cape Town Room, Zabeel Hall 1 LabQ Time: 3pm-5pm Venue: NextGen Room, Zabeel Hall 7

Visit Medlab Middle East's official website to learn more.

Back to Laboratory

Pharmacogenomics (PGx) studies how an individual's genetic makeup affects their drug response. In cancer, PGx helps personalise treatment by identifying drug efficacy and toxicity variations based on genetic variants.

Why is PGx important in oncology?

Cancer is a complex disease with diverse tumour types and individual responses to treatment. PGx can help optimise drug dosages, minimise side effects, and improve treatment outcomes for individual patients.
 

What are the main types of genetic variations relevant to PGx in cancer?

Germline variations: These are inherited genetic changes that remain constant throughout the body. They influence drug metabolism and response across various medications.

Somatic variations: These are acquired mutations found only in cancer cells and may directly affect drug targets, influencing the effectiveness of specific cancer treatments.

Which regulatory bodies provide PGx information on drug labels?

Several organisations, including the US FDA, European Medicines Agency (EMA), Swissmedic, Health Canada (HCSC), and Pharmaceuticals and Medical Devices Agency (PMDA) in Japan, provide PGx information in drug labels. However, the level of detail and recommendations can vary between them.

What are some examples of PGx guidelines for specific drugs in oncology?

• Thiopurines: Guidelines recommend dose adjustments based on TPMT and NUDT15 genotypes to avoid severe myelosuppression.
• Fluoropyrimidines: Recommendations advise genotyping for DPYD variants and suggest alternative drugs or dose adjustments for patients with low enzyme activity to prevent severe side effects.
• Cisplatin: TPMT preemptive testing is recommended for children receiving cisplatin due to its association with hearing loss.
• Anthracyclines: CPNDS guidelines recommend genotyping for UGT1A6*4, SLC28A3, and RARG variants in pediatric patients to assess anthracycline cardiotoxicity risk and adjust monitoring and treatment plans accordingly.

What are the challenges of PGx implementation in clinical practice?

Despite its immense potential to revolutionise cancer treatment, PGx faces several challenges in becoming a routine part of clinical practice. These challenges can be broadly categorised into three main areas:

Awareness and education

• Limited awareness among healthcare workers and patients: Many healthcare professionals lack sufficient knowledge and training in PGx, hindering their ability to interpret test results and integrate them into treatment decisions. Moreover, patients often remain unaware of how their genes can influence their response to medication, limiting their active participation in treatment choices.
• Inconsistent guidelines and regulations: Lack of standardised guidelines across different healthcare systems creates confusion and inconsistency in PGx implementation.

Integration and accessibility

• Logistical hurdles in integrating testing into routine care: Integrating PGx testing into existing clinical workflows presents logistical challenges, requiring additional resources, personnel, and efficient data management systems.
• Reimbursement issues: Uncertainty about insurance coverage for PGx testing can limit its accessibility for patients, particularly those with limited resources.

Ethical consideration

• Privacy concerns:  Concerns about the privacy and security of genetic data require careful consideration and robust ethical frameworks to build trust and protect patient autonomy.
• Informed consent and potential discrimination: Ensuring patients understand the implications of PGx testing and obtaining informed consent before testing requires clear communication and education. Avoiding potential discrimination based on genetic information is crucial.

What are the future directions to accelerate PGx implementation?

Future efforts should focus on:

• Education and training programmes: Focused educational programmes for healthcare workers and patients can increase awareness, improve understanding, and build confidence in PGx.
• Development of standardised guidelines and decision support tools: Collaborative efforts among stakeholders can establish clear guidelines and user-friendly tools to facilitate seamless integration of PGx into clinical practice.
• Research and development: Continuing research on the genetic basis of drug response and developing new, cost-effective PGx tests can improve affordability and accessibility.
• Advocacy and policy changes: Engaging policymakers and healthcare systems to recognise the value of PGx and explore reimbursement models can ensure broader access to this technology.
• Addressing ethical concerns: Building robust ethical frameworks prioritising patient privacy, informed consent, and non-discrimination can foster trust and public acceptance of PGx.

Finally, pharmacogenomics (PGx) has the potential to revolutionise cancer treatment by enabling personalised, safer, and more effective treatment tailored to an individual patient's unique genetic makeup.

Despite several challenges in its implementation, we can overcome these hurdles by pursuing future directions that focus on education, research, policy changes, and ethical considerations. By doing so, we can pave the way for the widespread implementation of PGx in clinical practice and improve treatment outcomes for cancer patients.

Dr. Mohamed Nagy will be speaking at the NextGen Medicine conference at 4.15pm today.

Back to Laboratory

The next generation of laboratories, fuelled by the convergence of breakthroughs in bioscience and computing power, is an evolving phenomenon that will enhance medical discovery, research, and development soon. In the dynamic landscape of scientific research and healthcare, lab professionals are pivotal in advancing various disciplines, from biology and chemistry to diagnostics and beyond. At Medlab Middle East 2024, attendees will gain access to intensive and interactive courses that span laboratory management, lab quality management, and more.

Download the show daily to read all the latest news from Medlab Middle East 2024.

The science of longevity and the pursuit of increasing healthy lifespan are at the forefront of medical and biological research, intertwining complex facets of genetics, nutrition, exercise, and technology. Longevity science seeks not just to extend the number of years one lives but to enhance the quality of life in those additional years, emphasising healthspan over lifespan.

Dr. Jose Cordeiro's statement at the Dubai Future Forum, "anyone who is still alive by the year 2030 has a good chance of living forever”, reflects the optimism surrounding longevity advancements. The UAE and Gulf regions are particularly proactive, as could be seen at the Future Health Summit held in Dubai alongside Arab Health 2024. Shaista Asif, Group CEO of PureHealth, addressed this in her keynote, emphasising the intrinsic link between healthcare and longevity. She challenged the audience to rethink healthcare beyond traditional clinical settings, proposing a vision where healthcare is synonymous with extending quality life for all, not just the affluent.

"...what is healthcare if it's not focused on giving people more quality time? Healthcare equals more time, more time equals longevity, ergo healthcare equals longevity," Asif exhorted.

Asif critiqued the current healthcare system as "sick care" and advocated for a transformative approach that democratises longevity. She envisions a future where healthcare innovations allow individuals to lead active, fulfilled lives well beyond current expectations, breaking the cycle of a predetermined life span. Asif put out a rallying cry to industry leaders to be catalysts for change, disrupting the existing healthcare delivery to make longevity practical, affordable, and accessible to everyone.

Related: Six predictions that will impact healthcare in 2024

Dr. Mehmood Khan, CEO of Hevolution, addressed the complex issue of extending healthy lifespans, elaborating that the goal is not just to increase longevity but to enhance the quality of life during those additional years. He challenged the conventional approach to healthcare, pointing out that most life extensions in recent history come from public health initiatives rather than medical technologies.

Dr. Khan stressed the importance of addressing the global divide in healthcare access, warning that without a concerted effort to democratise health technologies, disparities between different regions and socioeconomic groups will only widen. He drew parallels with the spread of cellular technology to illustrate how innovation in business models and capital markets can facilitate widespread access to health advancements.

He called for a reevaluation of health systems to prioritise preventative measures over treating diseases individually, noting that curing all cancers would only marginally increase average life expectancy due to the multifaceted nature of health in ageing populations.

Dr. Khan also addressed the economic and social implications of an ageing global population, including the strain on resources and the need for infrastructure that supports an older demographic. He advocates for a comprehensive rethinking of technology deployment, healthcare policy, and public engagement to ensure advancements in healthspan are accessible and beneficial to all. His message underscored the necessity of a multifaceted approach to healthcare, incorporating public opinion, policy change, academic research, and ethical considerations.

Related: Advanced technologies and data are key to driving transformation of healthcare

The Summit also included a panel comprising of experts including Sadia Khuram, Chief Strategy Officer at PureHealth, Dr. Yoshiki Sawa, Professor at Department of Cardiovascular Surgery, Osaka University, Prof. Dr. Evelyn Bischof, Founding Vice President Healthy Longevity Medicine Society, Marc P. Bernegger, Founding Partner, Maximon and Longevity Investors Conference, and moderated by Ali Hashemi, Co-Founder, meta[bolic]& GluCare.Health. They shared their insights on advancing longevity through medical, technological and business perspectives, and discussed the cultural differences in the perception of longevity, the importance of targeting age-related processes to optimise well-being, and the role of insurance companies in relooking at healthcare models. The discussion also touched on the challenges of aligning business models with scientific innovations to improve health outcomes. The panel concluded with thoughts on the importance of integrating longevity-focused practices into healthcare systems and the need for a collaborative approach to advance the field.

Dr. Michael Ringel, Managing Director and Senior Partner at Boston Consulting Group, closed out the plenaries by challenging the notion that an ageing population will drain economic resources, arguing instead that extending healthspan can significantly boost economic value. Dr. Ringel displayed how past increases in healthspan were valued at over US$3 trillion annually, while even minor improvements could be worth more than US$7 trillion. A scenario extending just healthspan could yield US$367 trillion in value, highlighting the untapped economic potential of longevity research.

Dr. Ringel noted the rapid growth of the longevity biotech ecosystem, with a fourfold increase in related publications and double the investment rate compared to general biotech. With 200 biotechs in this space attracting over US$10 billion in investments, the field is burgeoning yet not oversaturated, presenting a prime opportunity for new entrants.

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