Genomes pilot brings happy news on rare disease diagnosis and health-care policy moves forward…

Hello, and welcome to the European Alliance for Personalised Medicine (EAPM) update. The end of COP26 has brought a raft of health-care news, see below, writes EAPM Executive Director Denis Horgan.

EAPM conference report

The report from the recent (10 November) EAPM conference will be in your inboxes later this week, so keep an eye out, and enjoy.

Council green lights new rules on health technology assessment

The European Council has given its final go-ahead for the adoption of a regulation on health technology assessment (HTA). Thanks to the new rules, innovative, safe and effective health technologies will be more quickly available for patients. Producers of medicines and medical devices will benefit because submission procedures will be simplified. Janez Poklukar, the Slovenian minister for health, said: “The adoption of this law is another demonstration of how EU countries, when acting together, can achieve very practical results for their citizens. This new law will benefit patients, producers of health technologies and our health systems.”

The new rules foresee that member states co-operate to conduct joint clinical assessments and joint scientific consultations. They will also join forces when it comes to the identification of emerging health technologies. In order to reduce the administrative burden especially for smaller companies, developers of health technologies should only have to submit information, data and other evidence required for the joint clinical assessment once at EU-level.

The vote means that the Council has adopted its position at first reading. The regulation still needs to be adopted by the European Parliament before it will be published in the EU Official Journal. It will start to apply three years after its entry into force (which happens on the twentieth day following its publication).

Trilogues for croo-border health threats 

Parliament has updated its negotiating mandate on the serious cross-border threats to health file, to ensure that there is coherence between it and the EU Health Emergency Preparedness and Response Authority (HERA). The update comes in the wake of anger from MEPs over being kept out in the cold on HERA. Under the amendments agreed, the new negotiating mandate calls for a balanced representation from industry and civil society on the HERA Advisory Forum and for the Parliament to have “a full seat in the HERA architecture to influence its activities,” said a press release from French MEP Véronique Trillet-Lenoir from Renew Europe. This means that the cross-border health threats proposal can continue in trilogues. 

COVID-19 pandemic underlines need to strengthen resilience of health systems, says OECD

OECD Health at a Glance 2021 says that the mental health impact of the pandemic has been huge, with prevalence of anxiety and depression more than double levels observed pre-crisis in most countries with available data, most notably in Mexico, the United Kingdom and the United States. COVID‑19 has also had a major indirect impact on people not infected with the virus. For example, breast cancer screening fell by an average of 5 percentage points in 2020 compared to 2019, across OECD countries with available data. The median number of days on a waiting list increased on average by 58 days for hip replacement, and 88 days for knee replacement in 2020, as compared to 2019. The COVID-19 pandemic has led to a sharp increase in health spending across the OECD. Coupled with reductions in economic activity, the average health spending to GDP ratio jumped from 8.8% in 2019 to 9.7% in 2020, across OECD countries with available data.

Countries severely affected by the pandemic reported unprecedented increases. The United Kingdom estimated an increase from 10.2% in 2019 to 12.8% in 2020, while Slovenia anticipated its share of spending on health rising from 8.5% to more than 10%. The pandemic highlights the persistent shortage of health workers stressing the importance of investing more in the years ahead on improving primary care and disease prevention and strengthen the resilience and preparedness of health systems. Indeed, the report says that health spending continues to focus mainly on curative care rather than disease prevention and health promotion, and much more is spent on hospitals than on primary health care. Prior to the pandemic, spending on health amounted to over USD 4 000 per person on average across OECD countries, reaching almost USD 11 000 in the United States. Inpatient and outpatient services make up the bulk of health spending, typically accounting for 60% of all health spending.

Rare disease diagnosis by 100,000 genomes pilot

Rare diseases are a global health-care challenge, with almost 10,000 conditions that affect 6% of the Western population. There is a genetic component to more than 80% of rare diseases, and these conditions can be disabling and costly to treat. With the development of next-generation sequencing in recent years, the diagnosis rates of rare diseases have improved greatly. In 2013, the UK government launched the 100,000 genome project to address the lack of diagnosis by applying whole-genome sequencing to study rare diseases, cancers, and infections in a national healthcare setting. A team of researchers from the 100,000 Genomes Project Pilot conducted a pilot study that enrolled families and undertook detailed clinical phenotyping of the proband to evaluate the effect of the whole genome sequencing approach on a genetic diagnosis of rare conditions by the National Health Service (NHS) in the UK. The authors performed various genetic testing on samples obtained from the participants.

There was a total of 4,660 participants in this study (2,183 probands and 2477 family members), of which 161 rare diseases were present, neurologic conditions, ophthalmologic conditions, and tumor syndromes appeared most common. There was a wide variation in the numbers of affected and unaffected individuals within each family. The authors aimed to recruit family trios (parents and proband) or larger family structures to facilitate more effective variant prioritization. In this study published in the New England Journal of Medicine, a genetic diagnosis was made in 25% of the probands, and the genotypes were deposited in the ClinVar repository.

Lockdowns set to return to Europe as deaths soar 10% in a week

Coronavirus infections are again sweeping across parts of western Europe, nearly two years into a global health crisis that has killed more than five million people. A World Health Organisation (WHO) official said coronavirus deaths rose by 10% in Europe in the past week, and declared that the continent was “back at the epicentre of the pandemic”. Much of that is being driven by outbreaks in Russia and eastern Europe, but Germany and the UK are seeing high new case numbers. Even in countries with high vaccination rates, large numbers remain unvaccinated.

While nations in western Europe all have vaccination rates over 60% – and some like Portugal and Spain are much higher – that still leaves a significant portion of their populations without protection, and lockdowns are largely a thing of the past. Related Articles Rules for drivers change on Monday and there are fears of more crasheswalesonline Aldi takes savage swipe at M&S in new Christmas advertwalesonline Dr Bharat Pankhania, senior clinical lecturer at Exeter University College of Medicine and Health, says that the large number of unvaccinated people combined with a widespread post-lockdown resumption of socialising and a slight decline in immunity for people who got their jabs months ago is driving up the pace of infections.

Thanks largely to vaccination, hospitals in western Europe are not under the same pressure they were earlier in the pandemic, but many are still straining to handle rising numbers of Covid patients while also attempting to clear backlogs of tests and surgeries with exhausted or sick staff. Even the countries experiencing the most serious outbreaks in the region recorded far fewer deaths per person over the past four weeks than the United States did, according to data from Johns Hopkins University.

And that is everything from EAPM for now – have an excellent week, stay safe, see you soon.

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