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.
Learning Loss Must be Recovered to Avoid Long-term Damage to Children’s Wellbeing
School closures have caused large and persistent damage to children’s learning and wellbeing, the cost of which will be felt for decades to come, according to a new report launched today by the Global Education Evidence Advisory Panel (GEEAP), co-hosted by the UK’s Foreign, Commonwealth & Development Office, UNICEF Office of Research-Innocenti, and the World Bank.
Prioritizing Learning During COVID-19 presents the latest data on the impact of school closures on children. Estimates suggest that without urgent action, a Grade 3 child who has lost one year of schooling during the pandemic could lose up to three years’ worth of learning in the long run.
“Learning losses due to school closures are one of the biggest global threats to medium- and long-term recovery from COVID-19. The evidence tells us that schools need to reopen and be kept open as far as possible, and steps need to be taken in reintegrating children back into the school system,” said Abhijit Banerjee, co-chair of the GEAAP. Dr. Banerjee, who shared the 2019 economics Nobel Prize in part for his work in education, is one of the 15 education experts from around the world who produced the second annual GEAAP report.
The economic cost of lost learning from the crisis will be severe. A recent estimation predicts a USD $17 trillion loss in lifetime earnings among today’s generation of schoolchildren if corrective action is not urgently taken.
“While many other sectors have rebounded when lockdowns ease, the damage to children’s education is likely to reduce children’s wellbeing, including mental health, and productivity for decades, making education disruption one of the biggest threats to medium- and long-term recovery from COVID-19 unless governments act swiftly,” saidKwame Akyeampong, Panel co-chair.
Low- and middle-income countries and children from lower socioeconomic backgrounds have been the hardest hit, the report notes. Schools have, on average, been closed for longer than in high-income countries, students have had less or no access to technology during school closures, and there has been less adaptation to the challenges of the crisis. Evidence is mounting of the low effectiveness of remote learning efforts. In Sao Paolo, Brazil, for example, Grade 5 students in remote classes learned nearly 75% less and were 2.5 times more likely to drop out. Emerging data on learning loss shows Grade 4 students in South Africa having lost at least 62% of a year of learning due to school closures, and students in rural Karnataka, India, are estimated to have lost a full year. The increase in education inequality that COVID-19 has created, across and within countries, is not only a problem in its own right; varied learning levels in the classroom makes it more difficult for teachers to help most students catch up, especially the most marginalized.
“While schools must be the first to open as restrictions are lifted, recovering the loss that children have experienced requires far more than simply reopening classrooms. Schoolchildren need intensive support to get back on track, teachers need access to quality training and resources, and education systems need to be transformed,” said Robert Jenkins, UNICEF Director of Education.
“Over 1.6 billion schoolchildren globally were shut out of school at the height of the pandemic, compounding the learning crisis poorer countries were already facing,” said Vicky Ford MP, UK Minister for Africa, Latin America and the Caribbean, ahead of the report launch today. “My priority in the coming year is to ensure as many children as possible globally get back to school and back to high-quality learning.”
The report identifies four urgent recommendations made by the Panel (GEEAP) to help prevent further loss and recover children’s education:
Prioritize keeping schools and preschools fully open. The large educational, economic, social, and mental health costs of school closures and the inadequacy of remote learning strategies as substitutes for in-person learning make it clear that school closures should be a last resort.
Prioritize teachers for the COVID-19 vaccination, and use masks where assessed as appropriate, and improve ventilation. While not prerequisites to reopening schools, the risk of transmission in schools can be sharply reduced when a combined set of mitigating actions, such as using quality masks and ventilation, are taken.
Adjust instruction to support the learning needs of children and focus on important foundational skills. It is critical to assess students’ learning levels as schools reopen. Targeting instruction tailored to a child’s learning level has been shown to be cost-effective at helping students catch up, including grouping children by level all day or part of the day.
Governments must ensure teachers have adequate support to help children learn. Interventions that provide teachers with carefully structured and simple pedagogy programs have been found to cost-effectively increase literacy and numeracy, particularly when combined with accountability, feedback, and monitoring mechanisms.
The expert panel also calls on governments to build on the lessons learned during school closures by supporting parental engagement and leveraging existing technology.
“We must continue to sound the alarm on the crisis in education and ensure that policy makers have clear evidence for how to recover the catastrophic learning losses and prevent a lost generation,” said Jaime Saavedra, Panel member and Global Director for Education at the World Bank.
COVID-19: WHO expresses hope worst of Omicron wave is over
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.
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.
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.
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.
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.
UN-backed COVAX mechanism delivers its 1 billionth COVID-19 vaccine dose
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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