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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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Health & Wellness

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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Sharp rise in Africa COVID-19 deaths

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A volunteer carer called Trinity is working in a COVID-19 field hospital in Nasrec, Johannesburg. IMF/James Oatway

COVID-19 deaths in Africa have risen sharply in recent weeks, amid the fastest surge in cases the continent has seen so far in the pandemic, the regional office for the World Health Organization (WHO) said on Thursday. 

Fatalities are rising as hospital admissions increase rapidly as countries face shortages in oxygen and intensive care beds. 

COVID-19 deaths rose by more than 40 per cent last week, reaching 6,273, or nearly 1,900 more than the previous week. 

The number is just shy of the 6,294 peak, recorded in January. 

Reaching ‘breaking point’ 

“Deaths have climbed steeply for the past five weeks. This is a clear warning sign that hospitals in the most impacted countries are reaching a breaking point,” said Dr Matshidiso Moeti, WHO Regional Director for Africa.  

“Under-resourced health systems in countries are facing dire shortages of the health workers, supplies, equipment and infrastructure needed to provide care to severely ill COVID-19 patients.” 

Africa’s case fatality rate, which is the proportion of deaths among confirmed cases, stands at 2.6 per cent compared to the global average of 2.2 per cent.  

Most of the recent deaths, or 83 per cent, occurred in Namibia, South Africa, Tunisia, Uganda and Zambia. 

Six million cases 

COVID-19 cases on the continent have risen for eight consecutive weeks, topping six million on Tuesday, WHO reported. 

An additional one million cases were recorded over the past month, marking the shortest time to reach this grim milestone. Comparatively, it took roughly three months for cases to jump from four million to five million. 

Delta, variants drive surge 

The surge is being driven by public fatigue with key health measures and an increased spread of virus variants.  

The Delta variant, the most transmissible, has been detected in 21 countries, while the Alpha and Beta variants have been found in more than 30 countries each. 

Globally, there are four COVID-19 virus variants of concern.  On Wednesday, a WHO emergency committee meeting in Geneva warned of the “strong likelihood” of new and possibly more dangerous variants emerging and spreading. 

Delivering effective treatment

WHO is working with African countries to improve COVID-19 treatment and critical care capacities.  

The UN agency and partners are also delivering oxygen cylinders and other essential medical supplies, and have supported the manufacture and repair of oxygen production plants. 

“The number one priority for African countries is boosting oxygen production to give critically ill patients a fighting chance,” Dr Moeti said. “Effective treatment is the last line of defence against COVID-19 and it must not crumble.” 

The rising caseload comes amid inadequate vaccine supplies. So far, 52 million people in Africa have been inoculated, which is just 1.6 per cent of total COVID-19 vaccinations worldwide.  

Meanwhile, roughly 1.5 per cent of the continent’s population, or 18 million people, are fully vaccinated, compared with over 50 per cent in some high-income countries. 

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Health & Wellness

Child mental health crisis ‘magnified’ by COVID

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A seven-year-old child looks out the window in Istanbul, Turkey, during the COVID-19 emergency. Closure of schools, disruption of health services and suspension of nutrition programmes, due to the coronavirus pandemic, have affected hundreds of millions of children globally. Photo: UNICEF

Half of the world’s children experience violence on and offline in some form every year, with “devastating and life-long consequences” for their mental health, the UN chief warned a symposium on the issue on Thursday.

In a video address to an event organized within the on-going High-Level Political Forum (HLPF), on mental health and wellbeing, he said that mental health services have long suffered from neglect and underinvestment, with “too few children” accessing the services they need.

Services cut

“The COVID-19 pandemic has magnified the problem. Millions of children are out of school, increasing their vulnerability to violence and mental stress, while services have been cut or moved online.

“As we consider investing in a strong recovery, support for children’s mental wellbeing must be a priority”, said Secretary-General António Guterres.

“I also urge governments to take a preventive approach by addressing the determinants of mental well-being through robust social protection for children and families”, he added, saying that mental health and psychosocial support, together with community-based approaches to care, are “integral to universal health coverage. They cannot be its forgotten part.”

Child’s view paramount

He also urged authorities everywhere to take the views and lived-experiences of children themselves, exposed to increasing on and offline threats, into account when formulating policies and protection strategies.

“Children play an important role in supporting each other’s mental wellbeing. They must be empowered as part of the solution. Let’s work together for sustainable, people-centered, resilient societies, where all children live free from violence and with the highest standards of mental health”, he concluded.

Children contribute

The meeting co-organized with the Permanent Mission of Belgium to the United Nations, and the Group of Friends on mental health and wellbeing, featured a video with contributions from children from 19 countries who took action to support one another.

UN Special Representative on Violence Against Children, Maalla M’jid, highlighted the devastating impact of violence on the mental health of children: “Exposure to violence and other adverse childhood experiences can evoke toxic responses to stress that cause both immediate and long-term physiological and psychological damage.

“In addition to the human cost, the economic cost of mental illness is significant”, she added.

Opportunity for change

The recovery phase of the pandemic, provides an opportunity for countries to invest in this field, she said, emphasizing that “we cannot go back to normal. Because what was ‘normal’ before the pandemic was not good enough, with countries spending on average only 2% of their health budgets on mental health.

“In addition to more investment, we need to change our approach to mental health. Building on the lessons of the pandemic, mental health and child protection services must be recognized as life-saving and essential.

“They must be incorporated into both emergency preparedness and longer-term planning and children must also shape the design, delivery and evaluation of responses”, she added.

The meeting contributed to raising awareness of the impact of violence on the mental health of children, both before and during the COVID-19 pandemic.

Examples were shared of effective approaches to supporting children’s mental health from different regions and in different settings; to identify what steps are needed to embed mental health best practices; put child protection and social protection services into action to build back better after the pandemic, while also supporting the Decade of Action to deliver the SDGs by 2030.

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