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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

Risky business: COVID-19 and safety at work

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Photo: UN Women Asia-Pacific

The numbers of home workers around the world  have been swelled by the COVID-19 pandemic, putting a fresh focus on the need for employers to ensure that their employees are working in a safe environment. On the World Day for Safety and Health at Work, we look at some of the ways the UN is helping employers and governments to keep people safe, wherever they work.

The world of work has been upended by COVID-19, and the effects are likely to be long-lasting. Before the pandemic, there were some 260 million home-based workers (not including domestic or care workers). The International Labour Organisation (ILO) estimates that figure could have doubled, with as many as one in three workers remote working in North America and Europe, and one in six in sub-Saharan Africa.

The rollout of vaccines, mainly in the developed world,  has increased the possibilities of a return to the workplace, but many companies and workers have signalled a wish to retain a degree of home working, after seeing some of the benefits. For employers, these include minimising the risk of contagion and  potentially spending less on expensive office space whilst staff no longer have to spend commuting to and from the workplace.

‘If you’re losing your mind, I’m right there with you’

However, whilst some are enjoying baking bread or taking a stroll during a conference call, and using the commuting time to indulge in new pursuits, others have been craving a return to a more structured work-life routine.

“I tell myself daily that I am grateful to have a job with understanding supervisors and colleagues. But all of it is hard. If you’re also a working mum losing her mind daily, know that I’m right there with you,” says Paulina, a New York-based teleworker.

“I have chaired meetings with a laptop and headphones on one side of a tiny, New York City kitchen while cooking lunch and having a screaming toddler wrapped around my ankles. While all of this is cute once or maybe twice, regular screams of children in the background can only be tolerated for so long. I should know, because I passed that line sometime in July.”

Stories such as this explain why a recent study by the International Labour Organisation (ILO) found that 41 per cent of people who worked from home considered themselves highly stressed, compared to 25 per cent of those who worked on-site.

“The most effective way to eliminate the risk of contagion in a work context is, for those who can do it, teleworking, says Joaquim Nunes, head of occupational health and safety at the ILO, “But we still need to pay attention to the physical and mental well-being of workers”.

As teleworking is likely to remain an important factor in many people’s jobs, Mr. Nunes says that work-related policies will have to be updated to reflect the new reality.

“There’s a good chance that the rise of teleworking during the COVID-19 pandemic will permanently change how we live and work. Many governments have realised this, and are taking a fresh look at the rights of employees working from home. For example, companies should ensure that workers do not feel isolated, whilst giving them the right to disconnect, rather than being online 24 hours a day”.

In Chile, a law adopted early in March 2020 goes some way to addressing some of these concerns. The legislation recognizes the right of remote workers to disconnect for at least 12 continuous hours in a 24-hour period. In addition, employers cannot require workers to respond to communications on rest days or holidays.

A healthy home?

Beyond the question of comfort and mental health, is one of physical safety. It is often said that most accidents happen at home, so, if this is where much of the working week is spent, should employers be responsible for making sure apartments aren’t death traps?

“For now, there are no easy answers when it comes to ensuring a suitable home office environment”, says Mr. Nunes. “However, we can say that the same principles that apply to other workplaces apply to teleworkers, in that employers have a general duty of care, as reasonably practicable. Employers can’t control the workplace when staff are working from home, but they can provide ergonomic equipment to workers, such as suitable chairs, and help them to assess their own risks and to learn about how to maintain healthy lifestyles.”

Teleworking is also challenging for enforcement agencies, as usually inspectors do not have free access to the private spaces. One solution to ensure compliance with legislation could be virtual inspections, which are already taking place in Nordic countries on a voluntary basis. “These involve labour inspectors video calling a worker at home, and being shown their work chair, desk, and lighting setup”, explains Mr. Nunes. “These inspections can serve as a way to monitor the home workplace and provide advice, but also raise understandable privacy concerns”.

Frontline fears

Whilst the new teleworkers and their employers grappled with their new reality, a large part of the global workforce had no choice but to go to a physical place of work. The difficulties faced by health care workers were widely reported, but employees in several other industries had to brave the trip to the workplace – sometimes on crowded trains and buses – and, often, interact with other people, at considerable risk to their health.

In the US, these fears led to collective action by workers at Whole Foods, a grocery subsidiary of Amazon. On March 31, 2020, in response to seeing their colleagues testing positive with COVID-19, workers decided to call in sick, and demand sick leave, free coronavirus testing and hazard pay. This was followed in April by work stoppages at some of America’s biggest companies, including Walmart, Target and FedEx.

Whilst early advice on protection and prevention focused on measures such as hand washing, the wearing of masks and gloves, and physical distancing, the ILO quickly realised that more needed to be done to address work-related issues.

“In the workplace, you have to think about more than just the individual worker: the whole environment needs to be protected’, explains Mr. Nunes. “One example that many of us will have come across is in shops and supermarkets, where it is now common to see PVC separators between cashiers and customers. Work surfaces are also being cleaned much more frequently, but this raises other concerns that need to be addressed, such as the potential for skin complaints or respiratory problems caused by the chemicals in cleaning products.”

Whilst areas such as healthcare and retail have been grappling with these issues for several months, other parts of the economy could soon be opening up. In several countries, plans are being made to allow gatherings of large numbers of people to take place, in venues such as concert halls and cinemas, and, heading into summer in the northern hemisphere, the range of permitted tourist activities looks set to expand.

However, for this to take place, and for economies to safely open, governments and employers, in collaboration with workers, will need to make sure that workers in these, and all other industries, are safe at their workplaces, and confident they will not be exposed to unnecessary risks, particularly those related to COVID-19.

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Biotechnologies: Commission seeks open debate on New Genomic Techniques

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research coronavirus

European Commission published, at the request of the Council, a study on New Genomic Techniques (NGTs). The study shows that NGTs, which are techniques to alter the genome of an organism, have the potential to contribute to a more sustainable food system as part of the objectives of the European Green Deal and the Farm to Fork Strategy.

At the same time, the study finds that the current GMO legislation, adopted in 2001, is not fit for purpose for these innovative technologies. The Commission will now start a wide and open consultation process to discuss the design of a new legal framework for these biotechnologies.

Commissioner for Health and Food Safety, Stella Kyriakides, said: “The study we publish today concludes that New Genomic Techniques can promote the sustainability of agricultural production, in line with the objectives of our Farm to Fork Strategy. With the safety of consumers and the environment as the guiding principle, now is the moment to have an open dialogue with citizens, Member States and the European Parliament to jointly decide the way forward for the use of these biotechnologies in the EU.”

NGTs developing rapidly in many parts of the world

NGTs, which can be defined as all techniques to alter the genome of an organism developed after 2001 (when the EU’s legislation on GMOs was adopted), have rapidly developed over the last two decades in many parts of the world, with some applications already on the market of some EU trade partners.

The main findings of the study are:

  • NGT products have the potential to contribute to sustainable food systems with plants more resistant to diseases, environmental conditions and climate change effects. Moreover, the products can benefit from higher nutritional qualities such as healthier fatty acid content, and reduced need of agricultural inputs such as pesticides;
  • By contributing to the EU’s objectives of innovation and sustainability of food systems, as well as a more competitive economy, NGTs can have benefits for many sectors of our societies;
  • At the same time, the study also analysed concerns associated with NGT products and their current and future applications. Concerns included the possible safety and environmental impact, for example, on biodiversity, the coexistence with organic and GM-free agriculture, as well as labelling;
  • NGTs are a very diverse set of techniques and can achieve different results, with some plant products produced by NGTs being as safe as conventionally bred plants for human and animal health and for the environment;
  • The study finds that there are strong indications that the current 2001 GMO legislation is not fit for purpose for some NGTs and their products, and that it needs adaptation to scientific and technological progress.

Next Steps

The study will be discussed with EU ministers at the Agriculture and Fisheries Council in May. The Commission will also discuss its findings with the European Parliament and all interested stakeholders.

In the coming months, an impact assessment, including a public consultation, will be carried out to explore policy options concerning the regulation of plants derived from certain NGTs.

Background

The study was prepared following a request from the Council of the European Union which, on 8 November 2019, asked the Commission to carry out “a study in light of the Court of Justice’s judgment in Case C-528/16 regarding the status of novel genomic techniques under Union law.”

The study was conducted by the Commission and informed by expert opinions and contributions from Member States’ competent authorities and EU-level stakeholders via targeted consultations.

A wide range of participants was involved in the consultation, which preceded the preparation of the report. All contributions are published.

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COVID-19 cases rise for ninth consecutive week, variants continue spreading

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COVID-19 cases and global deaths. WHO

COVID-19 infections have increased for the ninth consecutive week globally while variants continue their spread, the UN health agency has confirmed

Nearly 5.7 million new cases were reported in the last seven-day period, above previous highs, the World Health Organization (WHO) said in its latest coronavirus update published late Tuesday. 

The number of deaths from the virus also increased – now for the sixth consecutive week – with more than 87,000 confirmed victims. 

Southeast Asia spike 

All parts of the world reported falling numbers of infections, apart from Southeast Asia and Western Pacific regions. 

And although Southeast Asia reported the highest increases in infections and deaths for the third week in a row, it was India that accounted for the vast majority of cases, with 2.17 million new cases – a 52 per cent increase. 

This is the equivalent of nearly four in 10 global cases reported in the past week, followed by the United States (with 406,001 new cases, representing a 15 per cent decrease), Brazil (404,623 new cases, a 12 per cent decrease), Turkey (378,771 cases, a nine per cent decrease) and France (211,674 new cases, a nine per cent decrease). 

Mutations 

On the three known coronavirus variants of concern, WHO said that the so-called UK strain has been detected and verified in three more countries since last week, bringing the total to 139; that’s effectively most of the world, except Greenland and several central and southern African nations. 

The South African origin variant is in 87 countries and the mutations first found in Brazil and Japan, has been reported in 54. 

Monitoring is ongoing into seven other so-called “variants of interest”, the UN health agency said. 

Globally, there have been more than 148 million confirmed cases of COVID-19, including 3.1 million deaths, according to WHO.  

As of 27 April 2021, a total of 961,231,417 vaccine doses have been administered. 

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