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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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Making face creams from coffee beans as cosmetics get greener

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By Tom Cassauwers

‘Plant ingredients have always been used in cosmetics,’ said Heiko Rischer, head of plant biotechnology at VTT, a Finnish research centre. ‘But in recent years, there’s been a revived interest in plant-based compounds. Consumers are interested in greener and more sustainable ingredients.’

Today, most of the key ingredients used in the €80 billion European cosmetics industry are synthetic or animal-based or taken from wild plants. Producing these ingredients sometimes includes solvents or processes that are unsustainable and are becoming less popular with consumers. Harvesting wild plants also puts natural ecosystems under pressure.

Rischer and other European scientists are investigating how to get more natural and sustainable plant-based ingredients into cosmetic products.

Ecosystem pressure

The EU-funded InnCoCells project that VTT is coordinating is creating alternative ingredient options by growing plants or plant cells for use in cosmetics in a sustainable way.

‘We grow plant cells and organs in bioreactors,’ Rischer said. ‘But other partners grow the entire plants in aeroponics and greenhouses or in the field.’

InnCoCells is researching the commercial production of innovative cosmetic ingredients from plants such as basil or aromatic ginger.

‘Our work is currently in a bio-prospecting stage,’ said Rischer. ‘We evaluate different plant species for compounds. We start from a wide range of potential plants and reduce them over time.’

The team aims to develop up to 10 ingredients to bring to the market within the next three years – although it’s still early days for a project that started in May 2021.

‘Finding our way in this jungle of plant options is a challenge,’ Rischer said.

The focus is on the bio-active compounds in cosmetics, meaning the ingredients that create a desired effect such as anti-ageing of the skin rather than ingredients like stabilisers or fragrances. An essential part of the work in InnCoCells is to have the cosmetics do what they promise in a transparent way.

‘Cosmetics need to open up the evidence, so that products actually do what they claim,’ said Rischer. ‘This would really help the consumer make choices. When we buy food, there’s a lot of information on the package helping the consumer. We need to do the same for cosmetics.’

Coffee creams

In a separate, just-ended, initiative to green the cosmetics industry, the EU-funded Prolific project transformed plant residues into ingredients for beauty products. The team extracted polyphenols from coffee silverskins, a type of compound useful in cosmetics because of its anti-ageing effects on the skin. The polyphenol extract was standardised and used in a prototype face cream.

Normally, polyphenols are already derived from plants. But the compound is extracted through a chemical procedure resulting in waste that needs to be disposed of carefully. The project applied an environmentally friendly method, called subcritical water extraction, which only uses water under very high pressure to extract the polyphenols from the coffee silverskins.

All in all, the Prolific research used a range of new processes to derive useful compounds from agricultural waste of different plant sources such as coffee beans, fungi and legumes.

‘We use a cascading approach,’ said Annalisa Tassoni, the project’s scientific coordinator and an associate professor at the University of Bologna in Italy. ‘We do a first extraction, after which we look at what remains and try to extract another compound.’

Ultimately the residual fibres were used at different stages of production. Three prototype cosmetics were made by Greek partner company COSMETIC including a face cream, toothpaste and even a container jar that was made from plant fibres.

‘We valorise all the parts of the residues,’ said Georgios Tsatsos, general director of COSMETIC. ‘This goes up to the fibres left after the extraction process.’

Plant-based compounds

Several steps need to be taken before these green compounds can reach the cosmetics market. The techniques used by Prolific in processing coffee are close to being introduced into cosmetics production, but the methods need to be scaled up so that plant-based compounds can compete with synthetic ones.

‘There’s a lot playing in favour of this process for coffee,’ said Tassoni, ‘We opened up perspectives, and confirmed that certain techniques really work.’

While it will be difficult to outcompete all of the synthetic techniques in use in the cosmetics industry, Rischer is optimistic about the outlook for more environmentally sound approaches.

‘The cosmetics market is very big and diverse,’ he said. ‘Consumers are demanding more sustainable and green cosmetics, and within our own niche, we can have an impact.’

Research in this article was funded by the EU. This material was originally published in Horizon, the EU Research and Innovation Magazine.   

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In fight against male cancer, caring for mental health is a growing priority

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By Anthony King

At a hotel in the Scottish city of Aberdeen about 20 years ago, urologist James N’Dow and other doctors met a group of men who had suffered prostate cancer to ask for feedback on their care before and after surgery. The clinicians were stunned by the critical, albeit constructive, responses.

‘Frankly, they felt abandoned,’ said Professor N’Dow, who works at the University of Aberdeen. ‘When we discharged them after surgery, we thought their general practitioners were looking after them and their GPs thought we were.’

Minding the mind

Dealing with the emotional and mental toll of prostate cancer has grown in importance along with detecting and curing the disease itself. Prostate cancer is the second-leading cancer among men in Europe and is sometimes mistakenly viewed as a disease only of old age. It caused an estimated 335 500 cases, or 12.5% of cancers, in the EU in 2020.

Prof N’Dow heads an Innovative Medicines Initiative project – PIONEER – on prostate cancer that seeks to improve diagnosis and treatment. A parallel EU-funded initiative called FAITH is developing an electronic application for cancer survivors that could help spot if the “black dog” of depression is stalking them.

‘Depression is a big thing in post-cancer survivors,’ said Gary McManus, who leads FAITH and works at the Walton Institute for Information and Communication Systems Science in Waterford, Ireland.

Four in 10 men who have been treated for prostate cancer say they are anxious or depressed to some degree, with troubles worsening the more advanced the cancer, according to a 2020 study by Europa Uomo, a European advocacy movement for sufferers of the disease. Prostate cancer can increase the risk of suicide.

Stopping the spread

When prostate cancer is caught early enough, a man can be cured. If it spreads beyond the prostate, the cost of treatment is high and delivers minimal benefit. Usually, the disease will spread – metastasize – to the bones and lymph nodes.

‘It is not curable at that stage,’ said Prof N’Dow. ‘We are still picking up too many men with metastatic disease – and this is a failure of the system.’

Without treatment, the average period of survival from prostate cancer that has spread beyond the gland is about 21 months. With some newer therapies, some metastatic prostate cancer patients can survive five years or more.

Even when the cancer is aggressive, if it is restricted to the prostate gland a patient can be cured by surgery or radiation therapy – or a combination. Almost 95% of these patients are still alive up to 15 years after their diagnosis. Treatment can, however, affect a man’s urinary or erectile function.

Prof N’Dow hails recent EU recommendations to screen prostate cancer in men up to the age of 70 using a blood test and magnetic resonance imaging (MRI) scans based on an individual’s risk. Certain men over 50 and those of African descent or with a family history of prostate cancer are at heightened risk from this cancer and should be targeted for early detection.

Tracking the blues

Amid the efforts to improve detection and cures, FAITH’s planned app highlights the heightened focus on the psychological well-being of cancer patients.

Although it is being tested on people who have overcome lung and breast cancer, the app could be made to work for survivors of the disease in other parts of the body including the prostate.

In its study two years ago on anxiety or depression among men who have been treated for prostate cancer, Europa Uomo said 0.5% felt either one to an “extreme” degree and almost 4% to a “severe” extent. Nearly 11% and 28% fell into “moderate” and “slight” categories, respectively.   

A tracker of sorts, the app is being developed by European technologists and cancer doctors working together. The tests are taking place at three hospitals in Ireland, Spain and Portugal.

At home, a wearable watch records movement and sleep patterns that get fed into a phone app. Patients must occasionally answer questions from the app, for example about dietary choices, while a voice module checks for any changes in a person’s speech that may indicate depression.

In all, 27 measurements are being tracked in a bid to uncover which ones could flag a downward trajectory in a patient’s mental health. Performance will be compared against clinical questionnaires that doctors already use to monitor patients.

‘Once the patient is signed out of the hospital, they’re often on their own,’ said McManus. ‘If the hospital gives this app to a patient, doctors can remotely monitor how the patient is getting on.’

The phone app will not send sensitive patient data to the Internet. Instead, an algorithm is updated on the phone and fed back to the development team, which helps improve the app’s performance.

‘We’ll build our algorithm and try to pick out these downstream trajectories,’ said McManus. ‘Then we are basically training the app.’ Eventually, if the app picks up worrying signals, ‘an alarm is raised in the hospital and the patient is contacted,’ he said.

Empowering patients

The mental-health aspect of cancer diagnosis and care needs to be improved across Europe, according to Prof N’Dow, who said that this is a central goal of the European Association of Urology, where he is adjunct secretary general responsible for education.

‘The impact psychologically of the diagnosis or consequences of treatment is huge,’ he said. ‘This is something we understood in PIONEER.’

The project has sought to ensure that treatment comparisons take into account the impact on patient quality of life such as sexual, bowel or urinary function. Also crucial has been to identify those outcomes that matter most to patients.

That is why PIONEER has included patients themselves in discussions aimed at determining key unanswered research questions about prostate cancer.

‘Patients understand what they need,’ Prof N’Dow said. ‘Our job is to improve the lives of the most vulnerable and get them back to the life they knew before it was rudely interrupted by disease. The psychological well-being of the patient and their families should be recognized as central to that.’

Research in this article was funded via the EU. This material was originally published in Horizon, the EU Research and Innovation Magazine.   

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Central Asian Countries Show Commitment to a Cross-regional Approach to Pandemic Prevention

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Government officials representing health, environment, and agriculture sectors from all of Central Asian countries participated in a regional ministerial meeting Protecting Livestock and Preventing Pandemics that took place in Almaty today. The participants reaffirmed commitment to cooperating on One Health–a cross-sectoral approach that aims to help the region prevent future pandemics. The participants signed a communiqué giving a formal start to the development of the Central Asia One Health Framework for Action and a call for joint resource mobilization in support of the initiative.

Managing global health risks requires full cooperation between the livestock, environmental and public health sectors, at the national, regional, and global levels. One Health is an integrated, unifying approach that aims to sustainably balance and optimize the health of people, animals, and ecosystems. It recognizes that the health of humans, domestic and wild animals, plants, and the wider environment are closely linked and inter-dependent.

“The case for collaboration on One Health in Central Asia could not be clearer,” said Tatiana Proskuryakova, World Bank Regional Director for Central Asia. “The region shares many common challenges but also strengths and opportunities that can help the region realize One Health. What we are witnessing now is Central Asia setting an example for other regions and countries on how to work together for future generations’ health and wellbeing”.

The event in Almaty builds on the discussions held during a meeting in Tashkent in July 2022 when participants agreed on the need to prepare the Central Asia One Health Framework for Action that could provide a blueprint for the countries in the region to move forward with concrete actions, as well as would include a roadmap for investments at national and regional levels.

More specifically, the Regional One Health Framework for Action aims to contribute to addressing three high-level goals shared among Central Asian countries: pandemic prevention and preparedness, resilience of food systems, and improving regional trade and the competitiveness of agriculture. In addition, the Framework for Action will identify focus areas and mechanisms for regional collaboration, and include a One Health dashboard to monitor progress, while facilitating policy responses to emerging issues.

“Investing in One Health is an investment in humanity’s future. The proposed investment framework helps governments and development partners to avoid the cycle of panic-and-neglect and direct financial resources. This integrated, risk-based approach requires compliance with international health standards and promotes country ownership, while recognizing its global public goods nature. The vast majority of investments in One Health will also result in significant co-benefits, including improving food safety, preserving biodiversity and reducing GHG emissions” said Martien van Nieuwkoop, the World Bank’s Global Director for Agriculture and Food. “The World Bank is collaborating with several countries in Central Asia on this approach, and we are encouraged by the region’s resolve to work together to invest in One-Health as an important building block for pandemic prevention, preparedness and response”.

The development of the Framework for Action will support regional dialogue between networks of decision makers and technical staff, including epidemiologists, veterinarians, and environmental specialists from the three operational sectors. This will be especially useful in cases of transborder disease outbreaks, as it would enable sharing of information, quick integration of new knowledge, and regional action.

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