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Take a look at a selection of our recent media coverage:

Serum biomarkers in rheumatology and autoimmunity: do we need more?

18th July 2019

Despite the large number of laboratory tests ordered daily, diagnostic tools proven to be effective when managing immune-mediated diseases are limited, often forcing physicians to rely on a mixture of clinical, laboratory and radiological features to establish a diagnosis. 
 
Classical antibody assays, such as rheumatoid factors and antinuclear antibody, are effective in reaching the correct diagnosis but do not provide information about disease progression. As a result, the clinical scenario frequently changes over time, and a Finnish study has reported that over 40% of patients initially diagnosed with seronegative rheumatoid arthritis were later reclassified as having a different disorder after ten years.1 Similarly, our prediction of disease onset remains unsatisfactory. For systemic lupus erythematosus, advanced disease and accompanying comorbidities are often present at the time of referral, as shown by Choi et al, who reported that 30% of these patients manifest kidney disease at the first rheumatology visit.2 In addition, we do not have biomarkers that predict treatment response and new targeted therapies are still used with a trial and error approach. Cumulatively, these limitations and the lack of effective strategies for disease and patient profiling contributes to significant mortality, morbidity, and considerable socioeconomic costs. 
 
In general terms, diagnosis and stratification of disease, prediction of complications, progression and response to therapy can be correlated with specific genetic, immunological and proteomic traits (biomarkers) associated with the pathogenesis of the condition and also individual features of the patient. As an example, genotypes and haplotypes of genes involved in intracellular signalling of drugs are associated with poor response to treatment, whereas single nucleotide polymorphisms in specific cytokines can affect the natural history of the disease. The development of high-throughput ‘omics’ technologies (genomics, transcriptomics or metabolomics) that allow simultaneous examination of thousands of genes, transcripts and proteins is expected to change the playing field. Nonetheless, the clinical utility of ‘omics’ is currently low given its restricted commercial use and scarcity of data on useful biomarkers. 
 
References
  1. Paalanen K et al. Does early seronegative arthritis develop into rheumatoid arthritis? A 10-year observational study. Clin Experiment Rheumatol 2019;37:37–43.
  2. Choi MY et al. Preventing the development of SLE: identifying risk factors and proposing pathways for clinical care. Lupus 2016;25(8):838–49. 

Ribociclib receives NICE recommendation

Novartis has announced that Kisqali® (ribociclib) has been recommended by the National Institute for Health and Care Excellence (NICE) for use on the NHS in combination with fulvestrant, where exemestane plus everolimus is the most appropriate alternative,for the treatment of women with hormone receptor positive, human epidermal growth factor receptor-2 negative (HR+/HER2-) locally advanced or metastatic breast cancer who have received prior endocrine therapy.
 
Ribociclib in combination with fulvestrant will be available on the NHS with immediate effect, providing approximately approximately 5300 a year in England and Wales with a new option for their advanced breast cancer. The combination gives women the possibility of living five months longer without their disease worsening, than if receiving fulvestrant alone.
 
The NICE recommendation follows data from the MONALEESA-3 trial showing that ribociclib plus fulvestrant demonstrated superior efficacy, with median progression-free survival (PFS) of 20.5 months vs. 12.8 months for placebo plus fulvestrant, among overall study population of first- and second-line post-menopausal patients with HER2 negative advanced breast cancer.
 
This NICE recommendation is based on the second line subpopulation of MONALEESA-3 where ribociclib plus fulvestrant demonstrated a median PFS of 14.6 months vs 9.1 months with placebo plus fulvestrant. The second line subpopulation consisted of patients who had progressed after one line of endocrine treatment for advanced disease or relapsed while on, or within 12 months of completing, neoadjuvant or adjuvant endocrine therapy.
 
“Here at the Northern Centre for Cancer Care, we took part in the MONALEESA-3 trial that established the efficacy of this combination treatment” said Dr Mark Verrill, Consultant Medical Oncologist. “Ribociclib is already approved alongside an aromatase inhibitor as first treatment for metastatic breast cancer.  However, until very recently, we were unable to offer ribociclib or another drug of the same type to women who had already received an aromatase inhibitor and it had stopped working. This restriction meant that around half of the patients who might benefit from ribociclib could not receive it.  
 
It is a vital step forward to be able to offer ribociclib in combination with fulvestrant after an aromatase inhibitor and I anticipate many women benefitting from this approval. Helping women with this incurable disease by controlling it for longer and maintaining quality of life is a significant step forward.”
 
“The recommendation by NICE is an important development for patients with advanced breast cancer who need additional treatment options that can maintain their quality of life, and provide them with more time without disease progression. This now means ribociclib is available in multiple indications through the NHS which, coupled with the recent ASCO data demonstrating increased survival for pre-menopausal women with HR+/HER2- breast cancer, offers real hope to patients” said Mari Scheiffele, Novartis Oncology General Manager, UK & Ireland. “Novartis is reimagining medicine to transform cancer, and this milestone reflects our dedication to driving ongoing innovation in the treatment of breast cancer.”
 
The NICE recommendation has been published in its final draft guidance. Novartis is awaiting the NICE Technology Appraisal Guidance, the final step within the NICE approval process, which is scheduled for publication later this year and will be available via the NICE website. There will be immediate access to the combination treatment in England through the Cancer Drugs Fund (CDF) and in Wales through the Welsh New Treatment Fund, whilst Novartis await the NICE Technology Appraisal.
 
In 2017, ribociclib was approved in England and Wales for routine baseline commissioning as a first-line treatment in combination with an aromatase inhibitor.

Osteoarthritis linked to higher risk of dying from cardiovascular disease

Researchers at Lund University in Sweden have investigated the link between osteoarthritis and mortality in an epidemiological study. It was shown that the risk of dying from cardiovascular disease was higher for people with osteoarthritis than for the rest of the population.
 
Using population registers, the researchers studied approximately 469,000 people living in Skåne, Sweden, who in 2003 were between 45 and 84 years old and followed them through to 2014. The group included 16,000 patients with knee arthritis, 9000 with hip arthritis, 4000 with wrist arthritis and 5500 with other forms of osteoarthritis. They had all been diagnosed in 2003 or before.
 
“We looked at the cause of death for those who died between 2004 and 2014 and who had previously been diagnosed with osteoarthritis and compared the results with the rest of the population in the same region. The groups were not different in terms of most causes of death, but we saw the risk of mortality from cardiovascular disease was higher for those with an osteoarthritis diagnosis. The risk did not increase in the short term after the osteoarthritis diagnosis, but the longer a person had had osteoarthritis, the higher the risk of mortality from cardiovascular diseases compared with the background population, e.g. if a person had a knee arthritis diagnosis for 9 to 11 years, the risk was 16% higher,” says Martin Englund, professor at Lund University and physician at Skåne University Hospital, who led the study.
 
This means that for every 100,000 inhabitants who have had osteoarthritis for 9-11 years, 40 more die of cardiovascular diseases per year, compared with the population without osteoarthritis (in corresponding gender and age distribution).
 
The study did not investigate the mechanisms behind osteoarthritis and cardiovascular disease and the causal link is not fully known. However, Martin Englund has a theory on the reason behind the results.
 
“Osteoarthritis causes pain, which often results in people not being as mobile and becoming sedentary instead. Thus, there is a risk of weight gain, which we know leads to secondary diseases, including cardiovascular diseases. There are also other background factors in common for osteoarthritis and cardiovascular disease. Inflammation can be a contributory cause of osteoarthritis, and can also lead to an increased risk of cardiovascular disease. Regardless, it’s important to be physically active and keep body weight in check. In many countries there are special education programs for those suffering from osteoarthritis where you can get information on the disease as well as help and exercise advice,” concludes Martin Englund.
 
Reference
Turkiewicz A et al. Cause-specific mortality in osteoarthritis of peripheral joints. Osteoarthritis Cartilage 2019;27(6):848 DOI: 10.1016/j.joca.2019.02.793

Urine test could offer a non-invasive approach for diagnosis of IBS

15th July 2019

Scientists at McMaster University in Canada have identified new biomarkers for irritable bowel syndrome (IBS) in urine, which could lead to better treatments and reduce the need for costly and invasive colonoscopy procedures currently used for diagnosis.
 
“Diagnostic testing for IBS involves a long process of excluding other related gut disorders, such as inflammatory bowel disease,” explains Philip Britz-McKibbin, lead author of the study and a professor in McMaster’s Department of Chemistry & Chemical Biology.
 
“We were interested in finding if there is a better way to detect and monitor IBS that avoids invasive colonoscopy procedures while also giving us better insights into its underlying mechanisms,” he says.
 
Researchers performed metabolite profiling studies comparing urine samples from a cohort of IBS patients with a control group of healthy adults. They discovered for the first time distinctive metabolic signatures that were elevated in the IBS patients. Several metabolites were related to collagen degradation, which researchers believe is derived from the gut, suggesting there is an impairment of the elastic lining in the colon impacting its normal function.
 
Researchers believe the findings might also allow for routine treatment monitoring of IBS patients that can also be used to validate the efficacy of dietary and/or pharmacological interventions.
 
Currently, they are expanding their work to discover new biomarkers in urine that can differentiate Crohn’s disease from ulcerative colitis in children, hoping they can avoid future colonoscopies altogether. This may allow for rapid screening and early detection of various chronic gut disorders more accurately and at a lower cost.
 
Reference
  1. Yamamoto M et al. Metabolomics reveals elevated urinary excretion of collagen degradation and epithelial cell turnover products in irritable bowel syndrome patients. Metabolomics 2019;15(6)DOI: 10.1007/s11306-019-1543-0

Light touch to improve rheumatoid arthritis diagnosis

A new way of detecting rheumatoid arthritis using infrared light could offer an objective way of diagnosing the disease and monitoring treatment effectiveness, a University of Birmingham, UK study shows.
 
The new technique, developed by a team in the University of Birmingham’s School of Computer Science in partnership with Health Technologies Institute and Rheumatologists in the NIHR Birmingham Biomedical Research Centre, combines 3D digital imaging with infrared spectroscopy to create a 3D image of blood content inside a patients’ hand that can be used to produce an objective, quantifiable assessment.
 
The patient places a hand inside the scanner, which first creates a 3D model of the hand, measuring its size and contours. In the next step, an infrared beam is directed through each finger in turn and the amount of light coming out through the finger is measured. Because oxygenated and deoxygenated blood absorb light differently, it is possible to use the infrared imaging to calculate warning signs of RA such as hypoxia – and increased levels of blood content, an indication of inflammation.
 
“We know that diagnosing patients with RA early is really important, because early treatment leads to better long-term outcomes,” explains Professor Hamid Dehghani, who led the study. “The system we have developed offers a low-cost, objective way of detecting the disease and potentially grading how advanced it is. We hope, in time it will enable clinicians to diagnose the disease earlier and offer personalised treatment plans for patients.”
 
In a pilot study, the team examined 144 joints from 21 rheumatology patients and were able to detect accurately inflamed joints, with results closely matching diagnoses made using ultrasound and clinical examination. The results are published in the Journal of Biomedical Optics.1
 
Reference
  1. Lighter D et al. Detecting inflammation in rheumatoid arthritis using Fourier transform analysis of dorsal optical transmission images from a pilot study. J Biomed Optics 2019;24(06):1 DOI: 10.1117/1.JBO.24.6.066008

Targeted therapy combination improves survival in patients with advanced bowel cancer

11th July 2019

Results of the BEACON CRC Phase III trial have shown that triple therapy targeting BRAF mutations in progressive metastatic colorectal tumours significantly improved overall survival and objective response compared to standard care. 

The data, reported at the ESMO World Congress on Gastrointestinal Cancer 2019, suggest that the three-drug combination, encorafenib, binimetinib and cetuximab, should replace chemotherapy for the one in seven patients with metastatic colorectal cancer who have a BRAF mutation.1

“These are very exciting results because we’ve been trying to target BRAF-mutant colorectal cancer for many years. It’s encouraging to see such a significant improvement in overall survival and response in patients with such aggressive tumour biology. Hopefully, this will soon lead to increased access to this treatment for patients where there is currently such a large unmet need,” said study author Dr Scott Kopetz, from the UT MD Anderson Cancer Center, Houston, USA.

Kopetz explained that the three-drug combination builds on growing understanding of the activation of cancer genes such as BRAF and the effects of targeted therapies. “Colorectal cancer does not respond to BRAF therapy alone because tumour cells adapt through other mechanisms after initial treatment. With this triple targeted therapy, we are using a very scientifically logical combination to inhibit BRAF and these other mechanisms,” he pointed out.

Commenting on the relevance of the new data, Prof Andrés Cervantes from the Biomedical Research Institute INCLIVA, University of Valencia, Spain, stressed that it will be important for all patients with colorectal cancer to be tested for BRAF mutations in the light of the BEACON CRC findings. “We now have a specific treatment that can change the natural course of the disease in patients with BRAF mutations and is better than previous therapy, so it is essential that patients are routinely tested.”

He also highlighted the chemotherapy-free nature of the targeted combination used in the study. “In many other types of cancer, and particularly in colorectal cancer, it is common for biological targeted therapies to be used in combination with chemotherapy. The fact that we can give this targeted combination without the need for chemotherapy is very good news for patients, not least because of the side effects that they typically experience with chemotherapy,” he added.

“At present, targeted therapy should probably be limited to the patient group treated in the BEACON CRC trial who had progressed after one or two previous lines of chemotherapy. However, it is important that we investigate its use in other settings where more patients with BRAF mutations may also benefit, including those with less advanced metastatic disease and possibly in the adjuvant setting after primary surgery with curative intent,” concluded Cervantes.

Study results
In the global BEACON CRC study (NCT02928224), 665 patients with BRAF V600E-mutant colorectal cancer who had progressed after one or two prior regimens in the metastatic setting were randomised to receive triplet therapy, doublet therapy (encorafenib and cetuximab) or the investigator’s choice of irinotecan or folinic acid, fluoruracil and irinotecan (FOLFIRI) and cetuximab.

Median overall survival was 9 months (95% confidence interval [CI]: 8, 11,4) for the triplet targeted therapy compared to 5.4 months (95% CI: 4.8, 6.6) for standard therapy (hazard ratio [HR] 0.52; 95% CI: 0.39, 0.7, p<0.0001).

Confirmed objective response rate by blinded central review for the triplet targeted therapy was 26% (95% CI: 18, 35) compared to 2% (95% CI: 0,7, p<0.0001) for standard therapy.

Median overall survival for the doublet combination was 8.4 months (95% CI: 7.5, 11) compared to standard therapy (HR 0.6; 95% CI: 0.45, 0.79, p<0.0003). The study was not powered to compare triplet and doublet therapies but future analyses will explore which patients are most likely to benefit from triplet versus doublet combinations.

BRAF V600E targeted treatment was well tolerated, with Grade 3 or higher adverse events seen in 58% of patients on triplet treatment, 50% of those in the doublet group and 61% of those in the standard therapy group.

An ongoing study (ANCHOR-CRC) is investigating the effects of triplet therapy as first line treatment for patients with metastatic BRAF V600E-mutant colorectal cancer.

Reference

  1. 1 LBA-006 ‘BEACON CRC: a randomized, 3-Arm, phase 3 study of encorafenib and cetuximab with or without binimetinib vs. choice of either irinotecan or FOLFIRI plus cetuximab in BRAF V600E–mutant metastatic colorectal cancer’ presented by Scott Kopetz during Session XX: Colorectal Cancer (Part I) on Saturday, 6 July  09:20-10:05 CEST. Annals of Oncology 30 (Supplement 4): iv137–iv151, 2019

Switching to extended half-life prophylaxis impacts clinical outcomes in haemophilia A or B

Clinical study data on switching haemophilia A and B patients from on-demand treatment to extended half-life (EHL) prophylaxis showed a positive impact on clinical outcomes, with improvements in quality of life (QoL) and reduced annual bleeding rates (ABR). 
 
The results of these joint studies by Sobi™ and Sanofi were presented at ISTH 2019, the 27th Congress of the International Society on Thrombosis and Haemostasis, in Melbourne, Australia, on 7, 8 and 9 July 2019.
 
“This data supports the observation that the introduction of EHLs has allowed for people with haemophilia to live a life beyond haemophilia, with increased quality of life and a greater ability to engage in sports and activities,” says Armin Reininger, Head of Medical and Scientific Affairs at Sobi. “Improved opportunities to personalise treatment are valuable in this respect, and personalisation is only possible using replacement factor.”
 
The introduction of EHL factor replacement products has led to patients switching from standard half-life products to EHLs as well as from on-demand treatment to EHL prophylaxis. Clinical studies and surveys with treating physicians presented at ISTH show that the outcome of this switch has largely been beneficial. For people with haemophilia who switched from on-demand to prophylactic rFVIIIFc (Elocta®) or rFIXFc (Alprolix®) treatment, the clinical studies showed benefits including reduced ABRs which were maintained long-term, with improved joint health and quality of life, at stable factor usage levels. The most pronounced differences in quality of life were related to sports, leisure and physical health.
 
In a survey among physicians who had switched patients from standard half-life products to EHLs, a majority reported improved quality of life, treatment adherence and disease control, and reduced treatment burden, after a switch to rFVIIIFc or rFIXFc. Most physicians surveyed believed EHLs allow treatment personalisation and can lead to a more active life without worry about bleeds.
 
Results from the studies
Within the A-LONG and ASPIRE (Elocta), and B-LONG and B-YOND (Alprolix) studies, analyses of the long-term outcomes of patients with severe haemophilia A and B who had been switched to prophylaxis with Elocta or Alprolix from on-demand treatment were presented.
 
Of 70 subjects with severe haemophilia A switching from on-demand to prophylaxis in A-LONG/ASPIRE, 67 (96 per cent) continued prophylaxis for ≥6 months with a median duration of prophylactic treatment with rFVIIIFc of 4.8 years. The median weekly dose was stable and median intervals increased from 3.5 to 5.0 days at start vs. end of follow-up. Median overall ABR was 30.0 with on-demand vs. 1.5 on prophylaxis, and stable over time. Joints with pain decreased in 29 per cent of subjects and joint health measured using modified Haemophilia Joint Health Score (mHJHS) was improved, as was quality of life in relation to areas such as sports, leisure and physical health.
 
Similarly, of 52 subjects with severe haemophilia B switching from on-demand to prophylaxis in B-LONG/B-YOND, 50 (96 per cent) continued prophylaxis for ≥6 months with a median duration of prophylactic treatment with rFIXFc of 3.6 years. The median weekly dose and dosing interval were stable from start of prophylaxis to the end of follow-up. Median overall ABR was 24.2 with on-demand vs. 2.0 on prophylaxis, and stable over time. Quality of life improved, in relation to areas such as sports, leisure and physical health. This data demonstrates the positive impact on clinical outcomes of switching from on-demand to rFIXFc prophylaxis.
 
Furthermore, Sobi conducted a survey in five European countries of physicians’ treatment-switching practice in prophylaxis for people with haemophilia A and B. An online questionnaire was given to physicians in Germany, France, the UK, Italy and Spain regarding treatment practices, factor prescription and switches to EHL products in their centres: 37 physicians took part, providing information on 113 patients switched from FVIII prophylaxis to Elocta (EHL rFVIIIFc) and on 36 patients switched from FIX prophylaxis to Alprolix (EHL rFIXFc). Bleed rates, pharmacokinetics, joint health and adherence were considered most important outcomes to assess in routine care and when switching to an EHL. Physicians reported decreased weekly dose, injection frequency and estimated ABR after a switch to rFVIIIFc or rFIXFc. In haemophilia A, most physicians believed that EHLs allow treatment personalisation and a more active life without worry about bleeds, and a majority reported improved QoL, adherence, disease control and reduced treatment burden after a switch to rFVIIIFc. In haemophilia B, most physicians perceived a reduced treatment and disease burden, less pain, and improved QoL and adherence in patients.

Worldwide variation in nurses’ knowledge of cancer

Nurses’ knowledge of cancer and screening processes varies significantly across the globe – potentially resulting in unnecessary deaths where knowledge falls short – new research in the European Journal of Oncology Nursing reports.
 
In the first study of its kind researchers from the University of Surrey investigated nurses’ awareness of cancer warning signs, cancer screening and the frequency of discussions held with patients about early cancer diagnosis in eight countries across the world.
 
A growing and ageing population has led to increased demands on primary care providers, which has been eased by expanding the role of nurses. Due to this change in their role, primary care nurses have taken responsibility for managing chronic diseases, triaging acute minor conditions and screening for cancer. It is therefore vitally important to assess varying levels of knowledge in nurses across the world.
 
Examining 21 studies in this field, researchers identified substantial international variation in nurses’ knowledge of cancer screening. For example, in Jordan only 9.1% of nurses knew the recommended age of initiation for colorectal screening is 50 years and in Brazil only 12.5% of nurses knew the correct age for breast screening in their country. In comparison, a relatively high proportion of nurses in the US and Oman knew the correct recommended ages of initiation in their countries.
 
There was also deviation in understanding of how often individuals should be screened.
 
Researchers found a low proportion of nurses in Turkey, Brazil, Jordan and Oman were aware of the correct recommendations in their countries. This is in contrast to nurses in the UK, where 92.6% correctly identified ‘every three years’ as the recommendation for cervical screening for women who have received negative results for both cytology and HPV testing.
 
Nurses’ discussions with patients about the importance of early cancer diagnosis via screening also differed enormously across the globe. For countries without organised cancer screening programmes a patient’s decision to participate in screening is often influenced by recommendations from primary care professionals.  In the UK a high proportion of nurses routinely promoted cervical screening (91.6 per cent) and provided information about its benefits (87.4%), with less than 10% of nurses holding such discussions in Jordan, Oman and Brazil. Reasons for not having such discussions included lack of time (83.9%), professional burnout (54%) and lack of knowledge about screening (42.2%).
 
Lead author Hanna Skrobanski from the School of Health Sciences at the University of Surrey said: “Cancer is the second leading cause of deaths worldwide, responsible for one in six deaths globally. Early diagnosis is key and nurses play an important role in recognising and responding to cancer warning signs in patients.
 
“However, it is concerning that knowledge amongst nurses of warning signs and screening varies enormously across the globe  Lack of knowledge in certain countries could lead to a delay in patients accessing treatment and result in unnecessary deaths.”

EU marketing authorisation for dolutegravir/lamivudine

ViiV Healthcare has announced that the European Commission has granted marketing authorisation for Dovato (dolutegravir/lamivudine) for the treatment of HIV-1 infection in adults and adolescents above 12 years of age weighing at least 40kg, with no known or suspected resistance to the integrase inhibitor class, or lamivudine.
 
Deborah Waterhouse, CEO, ViiV Healthcare, said: “For many years, the standard of care for people living with HIV in Europe has been a three-drug regimen. The data from our dolutegravir-based 2-drug regimen development programme challenges this, and with the authorisation of Dovato, people living with HIV can for the first time start treatment on a once-daily, single-pill, two-drug regimen with the knowledge that efficacy is non-inferior to a three-drug regimen whilst containing fewer antiretrovirals. Dovato strengthens ViiV Healthcare’s industry-leading portfolio of innovative treatment approaches for people living with HIV.”
 
Marketing authorisation for Dovato is supported by data from the landmark global GEMINI 1 & 2 studies that included more than 1400 HIV-1 infected adults. In these studies, dolutegravir (DTG) + lamivudine (3TC) demonstrated non-inferior efficacy based on plasma HIV-1 RNA <50 copies per millilitre (c/mL), a standard measure of HIV control, at Week 48 when compared to a three-drug regimen of dolutegravir and two nucleoside reverse transcriptase inhibitors (NRTIs), tenofovir disoproxil fumarate/emtricitabine (TDF/FTC), in treatment-naïve, HIV-1 infected adults. The safety results for dolutegravir + lamivudine seen in GEMINI 1 and 2 were consistent with the product labelling for dolutegravir and lamivudine. Four patients (1%) in both the DTG + 3TC, and the DTG + TDF/FTC, study arms experienced drug-related serious adverse events, and 15 patients (2%) in the DTG + 3TC arm and 16 patients (2%) in the DTG + TDF/FTC arm had adverse events that led to discontinuation. The most common adverse reactions included headache, diarrhoea, nausea, insomnia, and fatigue. No patient who experienced virologic failure in either treatment arm developed treatment-emergent resistance also up to Week 48.
 
John C Pottage, Jr, MD Chief Scientific and Medical Officer, ViiV Healthcare said: “The marketing authorisation of Dovato in Europe marks a significant development for people living with HIV.  This treatment allows individuals to take a 2-drug regimen in a single pill with dolutegravir at the core, building on the established potency and safety profiles of dolutegravir and lamivudine. ViiV Healthcare’s ambition and innovative R&D programme aims to reduce the number of HIV drugs people living with HIV take over a lifetime and Dovato is an important addition to our portfolio of medicines to support this aim.”

Integrated, multi-‘omic’ studies of asthma could lead to precision treatment

8th July 2019

In an invited review article published in the Journal of Allergy and Clinical Immunology, Scott Tyler, PhD, and Supinda Bunyavanich, MD, MPH, report that numerous studies have shown the value of applying transcriptomics and other ‘omic’ approaches for defining asthma subtypes – but they also cite the need for more studies aimed at pulling together these disparate data streams for a more comprehensive view of the disease.
 
Asthma is a highly heterogeneous disease, presenting with a broad range of symptoms. According to the American Lung Association, more than 26 million Americans have asthma. It is the third most common cause for hospitalisation among children. Much effort has gone toward establishing clinical and molecular subtypes – known as endotypes – of asthma in order to better understand the disease and hone treatment recommendations for patients in each group.
 
“Endotypes are important for physicians and biomedical researchers because they organise the way we think about asthma, which manifests in many different ways across patient populations,” said Dr. Bunyavanich, faculty allergist/immunologist and Associate Professor of Pediatrics and of Genetics and Genomic Sciences, at the Icahn School of Medicine at Mount Sinai. “By strategically integrating clinical and molecular data, it should be possible to identify meaningful endotypes that both enhance our mechanistic understanding of asthma and guide our clinical care of asthma toward the best treatments for each subtype. This is important for optimizing patient outcomes.”
 
The review covers several types of omic studies that have been applied to asthma already, including transcriptomics, epigenomics, metabolomics, proteomics, and microbiome analysis. But, as the authors note, each approach captures only one dimension of the disease biology. More complex studies that integrate multiple layers of data have begun, but additional work is needed.
 
“We are in the early stages of these more sophisticated and comprehensive analyses of asthma, but the growth in available patient cohorts, data repositories, technology, and analytical tools gives us confidence that this kind of approach is rapidly becoming more feasible,” said Dr. Tyler, a postdoctoral fellow in the Bunyavanich Lab at Mount Sinai. “As this concept gains traction, it will be essential for researchers to ensure careful study design and implement rigorous methodology for the most reliable results for future use in precision medicine.”
 
Reference
 
Tyler S, Bunyavanich S. Leveraging -omics for asthma endotyping. J Allergy Clinic Immunol 2019;144(1):13 DOI: 10.1016/j.jaci.2019.05.015

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