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.
Best Extracurricular & After-School Activities to Reduce Stress
Being a student is a fun and exciting experience. However, it is also tightly connected with constant stresses. The lack of free time, stressful exams, tight deadlines – these and other challenges often make students’ lives unbearable and lead to various health issues. And, unfortunately, there is no way to eliminate stress from your college life completely.
So, since stress is an integral part of a student’s life, are there any ways to ease it? Living in a constant state of stress is definitely not an option. But, luckily, there are ways to prevent and reduce stress. One way to do this is to do my essay cheap and take a break from your academic issues. But, there is also another way.
In this article, we have collected the top seven activities that are proven to reduce stress levels and can help students survive in their intensive, busy college lives.
Meditation is one of the most widely known stress relief activities. Even a 10-minute session can provide you with short-term stress relief, and, apart from this, mediation is proven to deliver long-term stress management benefits too.
So, if you are feeling tired and anxious, try meditating. There are plenty of different practices, so everyone should find something to suit their needs. Be sure to give it a try.
Another activity students can try to improve overall well-being and get rid of stress is any kind of sport. Doing sports regularly will keep you fit and provide a long list of physical and mental health benefits, including stress relief.
If you are wondering how to get started, the easiest way to make sports a part of your everyday life in college is to join one of your school’s sports teams. It can be anything that feels right for you. The only thing to keep in mind is that being on a team will most likely take lots of your free time. So, if you don’t want your academic performance to drop, you might need to enlist the help of DoMyEssay to have someone who can take care of your assignments in any situation.
For decades, different forms of art were considered to be effective stress-relievers. Not without reason, psychologists often use art therapy as a tool to help patients cope with a variety of mental health issues. And, the good news is that you don’t even need to go to a therapist to feel the positive effects of art on your well-being.
To try this activity, choose a form of art that suits you best. It can be anything from coloring a coloring book to painting or making music. Try different options to find what works for you and devote at least a bit of time a day to your art therapy, and soon, you will notice the first positive effects.
We’ve already told you that sports and meditations are good for your mental health. Yet, yoga deserves to be a separate point on our list because it has a bit of both. Regardless of the chosen type of yoga, such practices are all about breathing, meditating, and finding a balance. All these things are powerful in terms of stress relief.
In addition to this, yoga is known to boost mood. So, if you feel like you are lacking tranquility and a feeling of happiness, be sure to try practicing yoga. We bet that once you get used to it, you will never want to go back.
The next after-school activity that can boost your mood and reduce stress is dancing. This activity involves two powerful stress-relievers – music and physical activity. Together they can have an effect much more powerful than anything else.
Want to give it a try? It is easy to get started. Try joining some dance classes or, if you don’t have much free time, just dance at home like no one is watching. One way or another, the benefits will be felt straight away.
Stretching your body is one more activity that will boost your well-being. According to numerous studies, physical flexibility is closely interlinked with mental flexibility. Therefore, stretching is known to reduce tension, help fight anxiety, reduce stress and depression, and trigger positive emotions.
Just like in the case with other activities we’ve mentioned in this article, stretching can be done right at home. All you need is a bit of free time, some soothing music, and a knowledge of some basic exercises. However, if you have time to join a stretching class, it would be even better because this way, you will also get an additional opportunity to socialize, which is also good for your well-being.
Different types of crafting are also good for fighting stress. Whether it is knitting, needlework, ceramics, or any other activity, it will definitely bring its benefits as long as you are enjoying the process.
The key trick here is to get distracted from your daily routine and get deeply involved in doing something creative. Just like it is in the case of arts, connecting with your creative side with the help of crafting can help you prevent and cope with a variety of mental health issues.
So, now you know about the top seven most stress-relieving activities that you can do after studies to boost mood and ensure overall well-being. All you need to do is to find the best option for you and make it a part of your life!
Left Ventricular Aneurysm Surgery
A heart aneurysm is a serious illness that causes impairment of the contractile activity of the affected area of the heart muscle. Most often such pathology develops in the wall of the left ventricle of the heart. The disease more often affects men over the age of 40. Aneurysm detected in the heart grows only up to a certain size, but always requires surgical treatment.
Treatment for left ventricular aneurysm
Today physicians cope with heart aneurysms only by surgery. This is the only effective method that can completely cure a patient. Medication therapy is only used to temporarily improve the condition of patients with left ventricular aneurysms. If a patient is diagnosed with a left ventricular aneurysm, urgent surgical treatment is prescribed in the presence of the following indications:
- Severe heart rhythm abnormalities
- Formation of a blood clot in the aneurysm
- Rapidly developing heart failure
- Aneurysm rupture
Surgical treatment of acute and subacute heart aneurysms is indicated in the rapid progression of heart failure and the threat of aneurysmatic sac rupture. In chronic cardiac aneurysm, surgery is performed to prevent thromboembolic complications and for myocardial revascularization.
As a palliative intervention, strengthening of the aneurysm wall with polymeric materials is resorted to. Radical operations include ventricular aneurysm resection (if necessary – with subsequent reconstruction of the myocardial wall).
How is the surgical treatment carried out?
During this procedure, the patient’s chest is opened and the blood flow through the heart is stopped. A special device is attached to the main vessels, which continues to maintain the pumping function while the heart remains inactive. Only then a surgeon removes the aneurysm. Vascular bypass is also performed, if necessary. After a cardiac aneurysm is excised, the treatment process is not over. After the operation, it is necessary to stay under the supervision of healthcare professionals, because there is a risk of complications.
In a post-traumatic aneurysm of the heart, the heart wall is sutured. If additional revascularizing intervention is necessary, aneurysm resection with CABG are performed simultaneously.
In the preoperative period, patients with a left ventricular aneurysm receive cardiac glycosides, anticoagulants, hypotensive drugs, and oxygen therapy.
As a rule, small left ventricular aneurysms do not require special methods of repair after the procedure. The defect after aneurysmectomy can be closed by a simple linear suture, which is effective and the most suitable option for such situations.
After left ventricular aneurysmectomy and possible plasty, the development of low ejection syndrome, repeated myocardial infarction, arrhythmias (paroxysmal tachycardia, atrial fibrillation), suture failure and bleeding, respiratory failure, renal failure, cerebral thromboembolism is possible.
Is it worth going abroad for treatment during a lockdown?
All of the above conditions pose a serious threat to a person’s life, so the start of treatment should not be delayed. Left ventricular aneurysm surgery should only be performed by an experienced physician because it is a very complex intervention. And the absence of timeliness and quality of the intervention becomes the reason why people go abroad to treat left ventricular aneurysms.
You might think that it isn’t worth jumping straight into it in the middle of a lockdown. But if you need to go abroad for treatment, you can. Yes, you may need to wait a bit longer to get a visa, but it also doesn’t have to be that way.
Booking Health knows all of the ways to organize the left ventricular aneurysm surgery as soon as possible. The company will help you to get a visa if you’re applying for the first time or if your request has been declined. Booking Health will also help you choose a hospital that suits your preferences, prepare all the necessary documentation, book the flight tickets and accommodation, and will do every single treatment-related thing for you.
For Booking Health to help you, please, leave a request on the official website, and a medical advisor will contact you.
WHO urges caution over travel bans linked to new COVID-19 variant
The UN health agency has urged all countries to adopt a risk-based and scientific approach to travel bans linked to a new COVID-19 variant identified in South Africa and Botswana.
According to WHO’s COVID-19 technical lead, Dr. Maria Van Kerkhove the information is still limited.
“There are fewer than 100 whole genome sequences that are available, we don’t know very much about this yet. What we do know is that this variant has a large number of mutations, and the concern is that when you have so many mutations it can have an impact on how the virus behaves”, she said during a Q&A on Twitter.
Dr. Van Kerkhove explained that researchers are currently trying to determine where the mutations are and what they potentially mean for diagnostics, therapeutics, and vaccines.
“It will take a few weeks for us to understand what impact this variant has, there’s a lot of work that is underway. It’s a variant that’s under monitoring. The (WHO) technical advisory group will discuss if it will become a variant of interest or a variant of concern and if that’s the case, we will give it a Greek name, but it is something to watch”, she added.
‘Do not discriminate’
The expert thanked researchers from South Africa and Botswana for openly sharing information to the UN health agency.
“Everyone out there: do not discriminate against countries that share their findings openly”, she urged, as countries such as Britain, France and Israel have moved to cancel direct flights from South Africa and surrounding nations.
According to South African health authorities so far fewer than 100 cases of the new variant have been confirmed, largely among young people who have the lowest vaccination rate in the country.
“Countries can do a lot already in terms of surveillance and sequencing and work together with the affected countries or globally and scientifically to fight this variant and understand more about it so that we know how to go about…so at this point implementing travel measures is being cautioned against”, WHO spokesperson Christian Lindmeier told journalists in Geneva.
Protect yourself and others
The WHO officials reminded previous advice: people can do a lot to protect themselves from COVID, including by continuing to wear masks and avoiding crowds.
“Everybody that’s out there needs to understand that the more this virus circulates the more opportunities the virus has to change, the more mutations we will see”, said Dr. Van Kerkhove.
“Get vaccinated when you can, make sure you receive the full course of your doses and make sure you take steps to reduce your exposure and prevent yourself from passing that virus to someone else”, she added.
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