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New Framework to Provide Global Approach to Solving Rare Diseases

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We need a global approach to diagnose and treat rare diseases, according to a new World Economic Forum paper, “Global Access for Solving Rare Disease: A Health Economics Value Framework,” released today. The paper, released ahead of Rare Disease Day and written by health economists from the UK, Australia, Canada and the US, proposes the first global framework illuminating the potential economic benefits of securely sharing genomic data for the purposes of diagnosing and treating rare disease.

There are currently 475 million people globally affected by rare disease, and only 5% of this population has a treatment. Most crucially, 80% of rare diseases result from genetic or genomic variants, meaning an individual is born with a rare disease. This results in 30% of children born with a rare disease dying before they reach their fifth birthday – often without a diagnosis. More than 450 million people – near the populations of the USA, Australia, Canada, and the UK combined – are living without a treatment or an opportunity to get better.

“We applaud the powerful patient advocacy community demanding international collaboration on data access to save lives,” said Genya Dana, Head of Precision Medicine, Shaping the Future of Health and Healthcare, World Economic Forum. “Now we show that it also makes sense economically to build out the infrastructure and the policies to support these efforts.”

By aggregating genomic and clinical data at a global scale, countries with national genomic institutes and similarly hospitals with in-house genomics institutes could come up with more answers both to diagnose currently undiagnosed or misdiagnosed people with rare disease and develop treatments. This could be done via a technical solution called a federated data system, which enables instantaneous, trustworthy access to datasets across countries or institutional locations via a decentralized architecture powered by applicational programming interfaces (APIs). Yet implementing a federated data system can be costly, about half a million US dollars.

This paper examines the incentives to establish such a federated data system, showing a return on investment could be possible across four major areas of benefit:

Diagnostic benefit: The identification of pathogenic or likely pathogenic variants in known disease genes

Clinical benefit: Changes in the medical or surgical management of patients as a result of the diagnosis being made, for example: the assignment of therapies (therapeutic benefit) or improvements in the management of patients in the absence of therapy assignment (management benefit)

Clinical trial benefit: Changes related to the improvement of clinical trial operations

Personal benefit: The presence of non-clinical outcomes that are important from a personal point of view to a person with a rare disease or who is affected by a rare disease. These outcomes may relate to the intrinsic value of information, the knowledge about the condition and the opportunity to make plans for the family or the future.

“There has never been a better time for international collaboration on solving rare disease,” said Arnaud Bernaert, Head of Health and Healthcare, Shaping the Future of Health and Healthcare, World Economic Forum. “The moral incentive to create a global genomic data consortium for rare disease has always been present, but now with this paper it is clear that there are multiple benefits in terms of economic incentives as well.”

The paper calls on countries to test out this proof of concept of a federated data system model in order to fully understand the benefits. The World Economic Forum is partnering with Genomics England, Australia Genomics Health Alliance, Genomics4RD, and Intermountain Precision Genomics in the UK, Australia, Canada and the US, respectively, to lead a proof of concept of such a federated data system by the summer of 2020.

The paper also includes 14 patient stories from the four countries of focus – the UK, Australia, Canada and the US. These stories speak to the lived experience of the high costs of paying for a rare disease and potential cost savings of a global data sharing approach.

What the leaders are saying

“Globally coordinated approaches are critical for counting the impact of rare diseases and creating new knowledge to informs solutions to improve the lives of people living with rare diseases,” said Gareth Baynam, Board Member of the Undiagnosed Diseases Network International and Founder of Project Y. “Addressing the needs of people living with rare diseases is a global health priority, and a human rights concern. It is also an opportunity to translate insights into health and broader social services innovation for all of us.”

“We hope that this white paper will provide the badly needed impetus and vision required to effectively and securely collect and share genomic data to diagnose and treat rare diseases,” said Mark Caulfield, FMedSci, Chief Scientist at Genomics England. “If implemented, this global, coordinated approach will build on the investments of the UK Government and NHS to increase our understanding of rare disease and accelerate our ability to generate clinical insights from genomic data. Ultimately, this will benefit all patients and families seeking precise diagnoses and effective treatments.”

“We support a global approach to data sharing to improve the diagnosis and treatment of rare diseases,” said Yann Le Cam the Chief Executive Officer of EURORDIS-Rare Diseases Europe and Member of the Council of Rare Diseases International. “Our recent Rare Barometer survey on data sharing of 2,000+ rare disease patients, family members and carers shows that, nearly 100% of respondents are supportive of data-sharing initiatives to foster research and improve healthcare and diagnosis. In parallel, 80% of respondents want full or near to full control over the data they share. They want to decide who has access to their data, and how and why those people are using that data.”

“There isn’t a more compassionate use of genomics than to help our most vulnerable patients,” said Lincoln Nadauld, Chief of Precision Health, Intermountain Healthcare. “We are thrilled to work with other like-minded institutions in order to help develop the growing field of genomics.”

Breaking Barriers to Health Data Project

The Breaking Barriers to Health Data project aims to craft and test a scalable governance framework to support the effective and responsible use of federated data systems to advance rare disease diagnostic and treatment-related research. The first case study will focus on enabling cross-border access to rare disease genomic data between the UK, Australia, Canada and the US. The framework will subsequently be tested for applicability using different types of data and use cases and in different jurisdictions. The project will leverage federated data system models being used in other industries (telecoms and transport) and draw from existing governance frameworks for responsible sharing of health-related data. The project also aims to test the hypothesis that federated systems can provide a useful way to navigate key barriers to sharing sensitive data and reduce friction when specific communities – such as the private sector, research institutes or public institutions – want to share or transfer health data across borders to support precision medicine.

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COVID-19: WHO expresses hope worst of Omicron wave is over

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Omicron continues to sweep the world, but cases seem to have peaked in some countries, which gives the head of the World Health Organization (WHO) hope that the worst of this latest wave of COVID-19 is over. 

Briefing journalists in Geneva, Tedros Ghebreyesus said that more than 18 million cases were reported last week, and the pandemic itself is far from over, so no country is out of the woods yet.

The number of deaths remains stable, but the agency is concerned about the impact the variant is having on already exhausted health workers and overburdened health systems.

“I remain particularly concerned about many countries that have low vaccination rates, as people are many times more at risk of severe illness and death if they’re unvaccinated”, Tedros said. 

Omicron may be less severe, but for the WHO chief “the narrative that it is mild disease is misleading, hurts the overall response and costs more lives.”

Tedros noted that the virus is circulating “far too intensely with many still vulnerable” and argued that, for many countries, the next few weeks remain critical.

COVAX

Over the weekend, the UN-backed COVAX facility delivered its one-billionth dose of vaccine. 

Tedros said he was proud of the milestone, but believes it’s essential to keep forging ahead with distributing shots fairly, across the world. 

“Vaccines may be less effective at preventing infection and transmission of Omicron than they were for previous variants, but they still are exceptionally good at preventing serious disease and death”, he explained. 

For him, immunization continues to be “key to protecting hospitals from becoming overwhelmed.”

Tracking the virus

The WHO chief also highlighted the importance of tracking new variants, like Omicron, in real time.

Tedros believes that the pandemic is “nowhere near over” and, with the incredible growth of Omicron, new variants are likely to emerge

So far, more than 7 million whole genome sequences from 180 countries have been submitted to GISAID, a global mechanism that provides open access to genomic data and was initially set up to track flu.

Using all that data, new formulations of vaccines are being developed and assessed for how they perform against different strains. 

Despite those efforts, Tedros is concerned that the world will enter “a second and even more destructive phase of vaccine inequity”, if it doesn’t change course. 

New treatments 

Last Friday, WHO recommended two new COVID-19 treatmentsto fight severe illness and death: a rheumatoid arthritis drug called baricitinib and a monoclonal antibody called sotrovimab.

For Tedros, the challenge, once again, is that high prices and limited supply means access is limited.

WHO is currently working with its partners in ACT-Accelerator to negotiate lower prices with manufacturers and ensure supply will be available for low- and middle-income countries.

Meeting

Next week, the WHO Executive Board, which is made up of 34 Member States, will meet to discuss the world’s health challenges.

The pandemic will remain at the forefront, but Member States will also be discussing the devastating impact of the pandemic on other health issues, and how the backsliding can be stopped. 

According to the WHO chief, the agency willbe working to accelerate progress on negotiations around a global pandemic accord.

Cervical Cancer Awareness

On a final note, Tedros noted that January is Cervical Cancer Awareness month.

In 2020, an estimated 604,000 women were diagnosed with cervical cancer worldwide and about 342, 000 women died from the disease.

The main cause of the disease is infection with high-risk types of human papillomavirus (HPV), an extremely common family of viruses that are transmitted through sexual contact.

There are, however, vaccines that protect against high-risk HPV types, which means it should be one of the most preventable and treatable forms of cancer.

On Monday, Serbia announced that this year,it will introduce a vaccination programme against HPV, joining the 116 nationswho already do it. 

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UN-backed COVAX mechanism delivers its 1 billionth COVID-19 vaccine dose

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photo © UNICEF/Aimable Twiringiyima

With a 1.1 million jab delivery in Rwanda this weekend, the World Health Organization’s multilateral initiative to provide equal access to vaccines for all reached the one billion milestone.

Along with the Coalition for Epidemic Preparedness Innovations (CEPI), the Vaccine Alliance GAVI, and partners, WHO has led the largest vaccine procurement and supply operation in history with deliveries to 144 countries to date.

According to a press release published on Sunday, as of 13 January 2022, out of 194 countries members of WHO, 36 have vaccinated less than 10% of their population, and 88 less than 40%.

COVAX’s ambition was compromised by hoarding/stockpiling in rich countries, catastrophic outbreaks leading to borders and supply being locked. And a lack of sharing of licenses, technology, and know-how by pharmaceutical companies meant manufacturing capacity went unused”, the agency explained.

On 24 February 2021, Ghana became the first country in the world to receive vaccines through COVAX when 600,000 doses of the Oxford–AstraZeneca vaccine were delivered to Accra. 

The work that remains

COVAX is currently working with governments, manufacturers and partners to ensure that when countries receive vaccines, they can get them to people quickly.

“The work that has gone into this (1 billion) milestone is only a reminder of the work that remains”, the UN’s health agency underscored.

They added that with updated vaccines in the pipeline, citizens should demand that governments and pharmaceutical companies share health tools globally and “bring an end to the death and destruction cycles of this pandemic, limit new variants and drive a global economic recovery”.

COVAX is one of three pillars of the Access to COVID-19 Tools (ACT) Accelerator, which was launched by WHO in April 2020 in response to the pandemic.

The ACT Accelerator is a ground-breaking global collaboration to accelerate the development, production, and equitable access to COVID-19 tests, treatments, and vaccines. 

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WHO recommends two new drugs to treat patients with COVID-19 

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Around two million doses of Sotrovimab are being produced globally in the first half of 2022. © GlaxoSmithKline

The World Health Organization (WHO) on Thursday reccommended two new drugs to treat patients with COVID-19, one for patients with critical disease, and another deemed effective for non-severe cases.

The first drug, baricitinib, is a Janus kinase (JAK) inhibitor- a class of drugs used to treat autoimmune conditions, blood and bone marrow cancers, and rheumatoid arthritis.

According to the WHO Guideline Development Group, it is “strongly recommended” for patients with severe or critical disease in combination with corticosteroids.

The group of international experts based their recommendation on “moderate certainty evidence” that it improves survival and reduces the need for ventilation.

There was no observed increase in adverse effects.

The experts note that it has a similar effectas other arthritis drugs called interleukin-6 (IL-6) inhibitors. Because of that, when both drugs are available, they suggest choosing the best option based on cost, availability, and clinician experience.

It is not recommended to use both drugs at the same time.

The experts also advise against the use of two other JAK inhibitors (ruxolitinib and tofacitinib) for patients with severe or critical cases of COVID-19 infection.

According to them, trials undergone using these drugs failed to show any benefits arising using either drug,and suggested a possible increase in serious side effects with tofacitinib.

Non-severe cases

In the same update, WHO makes a conditional recommendation for the use of a monoclonal antibody known as sotrovimab in patients with non-severe cases.

According to them, the drug should only be administered to patients at the highest risk of hospitalisation. In those at lower risk, it onlyshowed “trivial benefits”. 

A similar recommendation has been madepreviously, for another monoclonal antibody drug, casirivimab-imdevimab, and the experts say there is insufficient data to recommend one over the other.

For both, the effectiveness against new variants, like Omicron, is still uncertain. 

The group will update their guidelines for monoclonal antibodies when more data becomes available.

Recommendations

These recommendations are based on new evidence from seven trials involving over 4,000 patients with non-severe, severe, and critical infections.

Developed by WHO with the methodological support of MAGIC Evidence Ecosystem Foundation, the guidelinesprovide trustworthy guidance and help doctors make better decisions with their patients.

According to the agency, the guidelines are useful in fast moving research areas, because they allow researchers to update evidence summaries as new information becomes available.

The latest guidance also updates recommendations for the use of interleukin-6 receptor blockers and systemic corticosteroids for patients with severe or critical COVID-19; conditional recommendations for the use of casirivimab-imdevimab (another monoclonal antibody treatment) in selected patients; and against the use of convalescent plasma, ivermectin and hydroxychloroquine, regardless of disease severity.

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