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Proof of Concept for Sharing Rare Disease Data Across Borders Is Crucial Step for Diagnoses

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Those who contracted COVID-19 are experiencing what it’s like to have a condition that is difficult to diagnose without clear treatment options. This is the norm for people living with a rare disease. There are 7,000 rare diseases identified so far, often with broad symptoms, varying in severity from patient to patient. This causes not only a lengthy and difficult diagnosis process, but also a lack of available data for treatment given only a handful of people living in the same country are suffering from the same disease. In fact, treatments may be underway in one country unknown to the patients in another.

Over the last two years, the World Economic Forum’s precision medicine team led a pilot project called Breaking Barriers to Health Data, designed to ensure that people living with rare and other complex diseases were not missing out on life-saving diagnoses and treatments.

The health data consortium was developed with the Australian Genomics Health Alliance, Genomics4RD, Genomics England, and Intermountain Healthcare as well as 85 stakeholders from academia, government, and industry with the aim of sharing genomic data for rare diseases across borders.

The team produced a proof of concept that outlines how countries can come together, use pre-existing datasets of coded and de-identified patient information and access other datasets across country borders with similar data types. Australia and Canada reached an agreement on how to deploy this proof of concept and will likely test it later this year.

“Sorting through the human genome is like going through 100,000 digital photos – it’s a complex task that takes time and money,” said Lynsey Chediak, Project Lead, World Economic Forum. “It takes on average five to seven years to diagnose a rare disease. I was one of the lucky ones, a person living with a rare disease diagnosed at the age of 5. But, due to the time to diagnose, in some places, one-quarter of children will not live to see their tenth birthday. That can change. Sharing genomic data is a huge undertaking, but it is not particularly difficult technically. The larger challenge is how to form the necessary relationships between institutions that enable trust and transparency and sustained, predictable operations. Our project showed us that this can be done.”

Many countries want to share data in theory but are unable to do so due to data security, patient privacy and incompatibility in operating standards. A federated data system is a technical solution that can mitigate many of these concerns. Participating in a sensitive health data consortium is the only way to maximize volumes of data already collected, sitting in silos around the globe.

This has been a valuable exercise to explore how to maximize the utility of our existing datasets. Participating in this mode of international collaboration will be increasingly important to progress our shared knowledge of genomics – particularly in rare diseases,” said Tiffany Boughtwood, Manager of the Australian Genomics Health Alliance. “Working with the Forum over the last two years, we have created a clear governance structure and strong partnerships with like-minded genomics institutions beyond Australia’s borders.”

“This is an exciting proof of concept, showing how standards developed by the Global Alliance for Genomics and Health community can be put into practice and have a real impact on patients living with a rare disease,” said Oliver Hofmann, Co-Chair of the Global Alliance for Genomics and Health (GA4GH) Large Scale Genomics working group.

“Interoperability is key to enabling the responsible sharing of genomic and health related data for the benefit of humans everywhere,” said Peter Goodhand, Chief Executive Officer of the Global Alliance for Genomics and Health. “At GA4GH, we develop the technical standards that allow for such interoperability, but getting them into real-world practice is the most critical step. Through collaborations like the Breaking Barriers to Health Data project – which leverages the GA4GH Data Use Ontology and Framework for Responsible Sharing of Genomic and Health-related Data – we are beginning to see how our work can add real value to the global patient community.”

“As the parent of a child with an undiagnosed rare condition, access to state-of-the-art genomic testing is like winning the lottery,” said Durhane Wong-Rieger, President of the Canadian Organization for Rare Disorders. “The idea that my child’s genomic data could be interpreted using a federated database and then contribute back to this data system is like winning the trifecta. As president of the Canadian Organization for Rare Disorders, I am excited to be part of this pilot, and as chair of Rare Disease International, I anticipate the day when all patients across the world will take part.”

“Limited data is a common feature of rare diseases, resulting in high uncertainty, which impacts every part of people’s lives,” said Nicole Millis, Chief Executive Officer of Rare Voices Australia. “Australia’s National Strategic Action Plan for Rare Diseases calls for improvements to rare disease data collection and use, including best-practice safe storage and data sharing. One of the critical enablers of this is ‘state, national and international partnerships.’ The safe and anonymous sharing of rare disease data across borders will provide key decision-makers at all levels with greater knowledge of rare diseases, which can facilitate more responsive and appropriate services for people living with a rare disease, as well as their families and carers.”

“Care4Rare Canada is thrilled to be an active partner in this collaboration led by the World Economic Forum,” said Kym Boycott, Chair of Genetics at CHEO, Senior Scientist at the CHEO Research Institute, Professor at the University of Ottawa, and project lead of Care4Rare. “We set out to design Genomics4RD and its governance in a way that would enable this type of rare disease data connection. We have long believed that international data consortia, such as this, will lead to more diagnoses for our patients otherwise living without answers.”

By following the findings in this guide, the Forum hopes to encourage a cohesive, symbiotic relationship between health institutions throughout the world that may otherwise have different models of consent, operations, security and technology.

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 diagnosis and treatment. It is part of the World Economic Forum’s Health and Healthcare platform. The first case study will focus on enabling cross-border access to rare disease genomic data between four countries.

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Health & Wellness

Delta variant, a warning the COVID-19 virus is getting ‘fitter and faster’

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Cases and deaths resulting from COVID-19 continue to climb worldwide, mostly fuelled by the highly transmissible Delta variant, which has spread to 132 countries, said the head of the World Health Organization (WHO) on Friday.

Almost 4 million cases worldwide were reported last week to WHO and the agency expects the total number of cases to pass 200 million, in the next two weeks.

“And we know this is an underestimate”, underscored Director-General Tedros Adhanom Gebreyesus during his regular COVID-19 briefing.

Infections have increased in every region of the world, with some even reaching 80 per cent more in the past month. In Africa, deaths have increased by 80 per cent over the same period, the official warned.

Overwhelmed

Tedros blamed the rise of cases on increased social mixing and mobility, the inconsistent use of public health and social measures, and inequitable vaccine use. He said “hard-won gains” are in jeopardy or being lost, and health systems in many countries are increasingly overwhelmed.

“WHO has warned that the COVID-19 virus has been changing since it was first reported, and it continues to change. So far, four variants of concern have emerged, and there will be more as long as the virus continues to spread”, he underscored.

A higher viral load

Lead WHO epidemiologist and COVID-19 technical lead, Dr. Maria Van Kerkhove, explained that the Delta variant has certain mutations that allow the virus to adhere to human cells more easily and that experts are also seeing a higher viral load in individuals infected.

She called Delta “dangerous and the most transmissible SARS-CoV-2 virus to date”. 

“There are some laboratory studies that suggest that there’s increase replication in some of the modelled human airway systems”, she added.

In terms of severity, Dr. Van Kerkhove highlighted that there has been an increase in hospitalizations in certain countries affected by the variant, “but we haven’t yet seen an increase in mortality”.

The WHO expert reminded that although there is some data that suggest that people vaccinated can get infected and transmit the variant, the likelihood is much reduced after the second dose has been administered and reached full effectiveness.

She also clarified that Delta is not specifically targeting children as some reports have suggested, but warned that as long as the variants are circulating, they will infect anybody that is not taking proper precautions.

Continuing to evolve

“It’s in the virus’s interests to evolve, viruses are not alive they don’t have a brain to think through this, but they become more fit the more they circulate, so the virus will likely become even more transmissible because this is what viruses do, they evolve they change overtime”, Dr. Van Kerkhove warned, echoing Tedros’ remarks.

We have to do what we can to drive it down”, she added, reminding that public health and social measures do work against the Delta variant, and that the vaccines do prevent disease and death.

Dr. Michael Ryan, Executive Director of WHO Health Emergencies, said that even with the virus getting “faster and fitter” the gameplan does not change, but It needs to be implemented more efficiently.

“Delta is a warning that this virus is evolving, but it is also a call to action before more dangerous variants emerge”, he said.

Shots for Africa

Last month, the WHO chief announced the setting up of a technology transfer hub for mRNA vaccines In South Africa as part of WHO’s efforts to scale up production of vaccines and their distribution in Africa.

“Today we have taken another step forward, with a letter of intent that sets out the terms of collaboration signed by the partners in the hub: WHO; the Medicines Patent Pool; Afrigen Biologics; the Biologicals and Vaccines Institute of Southern Africa; the South African Medical Research Council and the Africa Centres for Disease Control and Prevention”, Tedros explained.

He added that WHO’s goal remains to aid every country in vaccinating at least 10% of its population by the end of September, at least 40% by the end of this year, and 70% by the middle of next year.

“We are a long way off achieving those targets. So far, just over half of countries have fully vaccinated 10% of their population, less than a quarter of countries have vaccinated 40%, and only 3 countries have vaccinated 70%”, Tedros warned.

The WHO head reminded that the global distribution of vaccines remains unjust, despite expert warnings and appeals, and said that all regions remain at risk, “none more so, than Africa”.

“On current trends, nearly 70% of African countries will not reach the 10% vaccination target by the end of September”, he cautioned.

New tool to fight Delta

Tedros also announced that on response to the Delta surge, the WHO’s Access to COVID-19 Tools Accelerator is launching the Rapid ACT-Accelerator Delta Response, or RADAR, and issuing an urgent call for 7.7 billion U.S. dollars for tests, treatments and vaccines. 

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COVAX and World Bank to Accelerate Vaccine Access for Developing Countries

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COVAX and the World Bank will accelerate COVID-19 vaccine supply for developing countries through a new financing mechanism that builds on Gavi’s newly designed AMC cost-sharing arrangement. This allows AMC countries to purchase doses beyond the fully donor-subsidized doses they are already receiving from COVAX.

COVAX will now be able to make advance purchases from vaccine manufacturers based on aggregated demand across countries, using financing from the World Bank and other multilateral development banks. Participating developing countries will have greater visibility of available vaccines, quantities available, and future delivery schedules, enabling them to secure doses earlier, and prepare and implement vaccination plans more effectively.

This important and timely financing mechanism, made possible now by the World Bank and Gavi teaming up on the AMC cost-sharing arrangement, will allow COVAX to unlock additional doses for low- and middle-income countries,” said Dr. Seth Berkley, CEO, Gavi, the Vaccine Alliance. “As we move beyond initial targets and work to support countries’ efforts to protect increasingly large portions of their populations, World Bank financing will help us advance further towards our goal of bringing COVID-19 under control.”

The scalable mechanism brings together COVAX’s ability to negotiate advance purchase agreements with vaccine manufacturers with the World Bank’s ability to provide predictable financing to countries for vaccine purchase, deployment and broader health systems investments. The new mechanism will mitigate risks and uncertainties in country demand and financing ability.

Accessing vaccines remains the single greatest challenge that developing countries face in protecting their people from the health, social, and economic impacts of the COVID-19 pandemic,” said World Bank Group President David Malpass. “This mechanism will enable new supplies and allow countries to speed up the purchase of vaccines. It will also provide transparency about vaccine availability, prices, and delivery schedules. This is crucial information as governments implement their vaccination plans.”

Countries with approved World Bank vaccine projects that confirm the purchase of additional doses through COVAX will agree with COVAX on the number of doses of a specific vaccine as well as related windows of delivery. On receiving a request from the country, the World Bank will provide COVAX a payment confirmation, allowing COVAX to make advance purchases of large amounts of vaccine doses with manufacturers at competitive prices.

Under the cost-sharing arrangement for AMC countries (92 low- and middle-income countries), COVAX plans to make available up to 430 million additional doses, or enough to fully vaccinate 250 million people, for delivery between late 2021 and mid-2022. There will be several supply offerings where countries will have the opportunity to select and commit to procuring specific vaccines that align with their preferences.

COVAX is co-led by the Coalition for Epidemic Preparedness Innovations (CEPI), Gavi, the Vaccine Alliance and the World Health Organization (WHO). The World Bank and COVAX will work in partnership with UNICEF and the PAHO Revolving Fund as key implementing partners to ensure safe vaccine delivery and supply of materials such as syringes, safety boxes and other items essential for vaccination campaigns.

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Study Finds That India Might Have Half Of All Covid-19 Deaths Worldwide

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© UNICEF/Vinay

On July 20th, an analysis that was published of India’s “excess mortality estimates from three different data sources from the pandemic’s start through June 2021 … yields an estimate of 4.9 million excess deaths.” As-of July 20th, the total number of deaths that had been officially reported worldwide from Covid-19 was 4,115,391, and only 414,513 (10%) of those were in India. If this new study is correct, then the possibility exists that around half of all deaths that have occurred, thus far, from Covid-19, could be in India, not merely the currently existing 10% that’s shown in the official figures.

This study doesn’t discuss why the actual number of deaths in India from Covid-19 might be around ten times higher than the official Indian figures, but one reason might be a false attribution of India’s greatly increased death-rate from the Covid-19 epidemic not to Covid-19 but to other causes, such as to Covid-19-related illnesses.

The new study is titled “Three New Estimates of India’s All-Cause Excess Mortality during the COVID-19 Pandemic”, and the detailed version of it can be downloaded here.   The study was funded by U.S.-and-allied billionaires and their foundations and corporations, and by governments that those billionaires also might control. However, this doesn’t necessarily mean that its methodology is in any way unscientific or otherwise dubious. The study raises serious questions — it does not, in and of itself, answer any. It’s a serious scientific study.

On 1 August 2020, I headlined “India and Brazil Are Now the Global Worst Coronavirus Nations”, and reported that, “India and Brazil have now overtaken the United States as the world’s worst performers at controlling the cononavirus-19 plague. The chart of the numbers of daily new cases in India shows the daily count soaring more than in any other country except Brazil, whereas in the United States, the daily number of new cases has plateaued ever since it hit 72,278 on July 10th, three weeks ago.” At that time, there was great pressure upon India’s Government to stop the alarming acceleration in the daily numbers of people who were officially counted as being patients (active cases) from the disease, and of dying from it. One way that a government can deal with such pressures is by mis-classifying cases, and deaths, from a disease, as being due to other causes, instead.

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