Creating a checklist for bringing oncogenomics in paediatrics into world healthcare systems

15 Dec 2021
Creating a checklist for bringing oncogenomics in paediatrics into world healthcare systems

By Denis Horgan, PhD, LLM, MSc

Executive Director, European Alliance for Personalised Medicine

The potential of oncogenomics in paediatrics is becoming increasingly evident, but healthcare systems are not yet fully geared to integrating the new approaches that could benefit patients.

This challenge was one of the focuses of a recent EAPM-led international conference on bringing personalised healthcare to patients, based on an index of positive and negative factors in how far conducive frameworks exist.

As Denis Horgan, chairing the conference, observed, this was an opportunity to assess the prospects for bringing oncogenomics in paediatrics into world healthcare systems, and speakers were asked to comment accordingly.

The index allowed comparison country by country and region by region, and the discussions among the 200 participants allowed a clearer understanding of the distinct national and regional frameworks and their openness to exploiting the potential of emerging science and technology in tackling childhood cancer.

The exchanges reflected distinct aspects of how personalised medicine can deliver benefits through public health initiatives that promote disease prevention, prediction of risk, and promotion of healthy lifestyles, with innovative medical interventions tailored to the specific needs of individual patients, providing better treatment, limiting adverse reactions and fostering a more efficient and cost-effective healthcare system.

The underlying forces of emerging science, combined with the growing awareness that healthcare systems are overdue for reappraisal, are together shaping healthcare possibilities, and particularly for cancer patients, where PM has already begun to transform care prospects.

A policy framework to bring personalised medicine into the way that healthcare systems manage paediatric cancer will require fresh thinking on issues ranging from governance to finance and reimbursement, from infrastructure to interdisciplinary cooperation, and from awareness to privacy.

But the overwhelming view from the conference was that there is a willingness to embrace the potential and convert possibilities into concrete improvements in care, with particular regard for paediatric cancer.

The index and associated discussion identified key factors to permit or facilitate the exploitation of genomics in paediatric cancer, ranging from the availability of biomarker testing in diagnostics to R&D expenditure, and from national policy regarding personalised medicine to availability of infrastructure for sequencing, testing, biobanks, data or screening.

Australasian diversity

In Australasia, South Korea, Japan and Australia are the leaders in terms of governance, adoption and awareness and primary cyber security. China outperforms other countries in Asia with better collaboration systems promoting efficient decision-making but ranks lowest in terms of health technology and processes due to lack of trust in drug development processes and diagnostics techniques. New Zealand's health strategy does not extend to focused and holistic programmes on tackling cancer, and there is no personalised health care strategy.

In South Korea cancer treatment costs are relatively low, but so is spending, and in particular new technology is lacking. The need is felt for expansion of coverage of public health services.  Sequencing is now widely available in the cancer programme. Systematic data collection is still under development but there is an openness to data sharing across borders.

India lacks a national framework for PM, and huge disparities in care across the country. The fragmented health system suffers from low investment and limited access to technology, as well as complex bureaucracy. Health insurance is not mandatory so reimbursement is very selective and limited inpatient and therapeutic categories and in maximum thresholds, and the payer system focuses on essential health services, with only imprecise plans for future reform.

In Singapore, a precision medicine strategy is being developed, currently focusing on the value proposition. But the complex health insurance system is not yet adapted to reimbursement of PM, and the digital infrastructure for health lacks interoperability. There is little awareness of PM among the ethnically diverse population,

European disunion

At national level, Europe is characterised by wide variations in national health provision and budgets, in support for research and in the availability of infrastructure and high-technology equipment, which largely correlate with the degree of implementation of PM. UK ranks high due to implementation of policy frameworks designed to promote PM and having a single agency for HTA and reimbursement, avoiding delays in decision making and inconsistent decisions.

Romania has successfully updated guidance on biomarker testing for non-small cell lung cancer, but Bulgaria still has no national cancer plan and no initiative on PM. France ranks highest for the availability of funding mechanisms and governmental support along with adoption and awareness indicating the availability of proper education supporting the adoption of PM.

In France and the UK, clinical geneticists are developing successful local medical genetics graduate training programs and initiatives such as French Genomic Medicine 2025 and the UK's 100,000 genome project. Scores for reimbursement remain high for all EU countries, with Germany ahead. Germany also boasts the best infrastructure based on the up-to-date availability of data handling systems.

The European Union itself has been increasingly consolidating its engagement with PM since 2016 and is key player in the emergence of the International Conference on PM. It is promoting collaboration among member states on infrastructure, technology and specialised care – notably with the 24 European reference networks in rare diseases, and with public-private partnerships.

PM features in much of the EU's legislative framework, and the trend is likely to be reinforced by the impending update of its rules on pharmaceuticals and on rare diseases, as well as plans for coordination on cancer. Attention to screening is however still rather limited. Developing PM is seen as much more than access to new tests and new drugs: it should be a shift towards better pathways of care

North America

In North America, US ranks higher than Canada in terms of governance, reimbursement, infrastructure, adoption and awareness, primary and cyber security, collaboration, health technology and processes, displaying excellent supporting factors for successful implementation of PM.  In the US, cancer care is seen as driven by precision medicine based on the use of biomarkers and covering the full care continuum from pre-diagnosis and diagnosis to treatment and throughout the entire spectrum.

Canada has advanced with the creation of a national genomic library, benefiting from collaboration across the country, but the size of the country and the uneven population distribution present some regional challenges to access to care, with frustrating inequities and disparities. The problems are all the greater for specialised care and rare diseases.

From Cappadocia to the Cape

In the widely-varied region of the Middle East and Africa, there is an appetite for developing PM among clinicians and patients in Egypt, fed by increasing availability of new technology and techniques, by appropriate medical training and education, and by a readiness to seek demonstrations of its cost-effectiveness potential in averting disease and optimising treatment.

Kuwait is enthusiastic about PM, but challenges persist in terms of culture, and the implications for primary care, and the country suffers from infrastructure deficiencies and fragmentation that impedes adequate feedback through health information systems. Across the Gulf states, comprehensive genomic profiling is increasingly available.

There is good regional cooperation, despite wide differences in organisation and funding arrangements from country to country. Saudi Arabia and Qatar rank above others in terms of data storage privacy,  management and handling, and Qatar scores well in terms of governance, reimbursement, infrastructure and collaborations. Israel boasts very advanced provision for genomics in medicine with wide availability and access to testing, and attempts are now underway to get PM incorporated into routine practice and to speed cancer pathways from diagnosis to treatment.

Turkey's challenges in introducing PM include numerous economic regulatory social and technical issues, developing convincing evidentiary support for the concept, incorporating genomic information into clinical care and research, educating physicians who admit to a lack of confidence in their ability to make clinical decisions when genetic or genomic information is involved.

Cameroon lags on governance, where the concept of personalised health care is largely neglected, and where health professionals and infrastructure are geared more to curative practice rather than public health – an approach reflected across much of Africa. Even the national cancer program has inadequate financing to cover the whole country.

Kenya ranks low due to lack of government support and funding and lack of cross-disciplinary and cross-border collaborations, and low or slow reimbursement arrangements impede adoption in Kenya and in South Africa.

Latin America lagging

In Mexico, where the profile of the diverse population reflects its strong European and African ancestry, genomic medicine is permitting valuable information on specific phenotypes of the country's diverse population and offers a path into national development of understanding of diseases in different segments of the population.

Challenges in advancing genomic medicine include financial and human resources, and the need to develop wider networking and collaboration in specialised medicine.

In Brazil, there has been commitment of governments to finance and support cancer registration, expansion of electronic medical record reporting, and an increase in passive data collection.

Decreased biopsies and other diagnostic procedures in the last two years – induced by Covid – are probably the reason for a lower cancer incidence, and the pandemic certainly reduced the number of surgical procedures and may have induced a rise in chemotherapy, as well as lower cancer mortality due to premature deaths in cancer patients in whom Covid was the primary cause of death.

At regional level within LATAM, Brazil ranks highest in terms of collaborations due to the presence of MTBs supporting decision making. In terms of governance, all countries within LATAM are range around a 50% score for indicating availability or implementation of policies and guidance.

Mexico ranks well in terms of reimbursement due to good scores for level of trust, the timeline for HTA and approval. Brazil and Argentina score well in terms of good infrastructure. But the level of access and availability of education and training remain very low for all, and especially for Mexico. Peru, Argentina and Mexico rank low in terms of attention to infrastructure requirements and access to biobanks.


- Policy frameworks should be revised to realise the expanding potential of oncogenomics in more personalised paediatric cancer care.

- The momentum imparted by COVID 19 for reviewing healthcare policy should be channelled into adopting new approaches to improving paediatric cancer with improved and safer therapies.

- Improvements cannot emerge from a vacuum or from unilateral action alone: collaboration must be established between all actors, including those who regulate and those who pay for healthcare and social provision.

- An overarching scheme is necessary for comprehensive progress towards implementing PM, and particularly in bringing oncogenomics into paediatric care, with a convergence of awareness, infrastructure and investment to create a conducive ecosystem.