EuropaBio Principles for Genetic Testing and Testing for Genetically Driven Risk Factors

Executive Summary

Advances in science and technology have greatly improved our understanding of the genetic basis of disease, which have made it possible to redefine many diseases at higher resolution and target them with more precise treatments such as cell and gene therapies.

Increased access to genetic testing is a significant opportunity for patients and healthcare systems in Europe by supporting the deployment of targeted therapeutic strategies. With knowledge, people at risk of developing diseases may take steps towards prevention. New therapies can transform lives if they reach the right patients at the right time. Whether for screening, early or confirmatory diagnosis, or patient stratification, genetic testing can support medical decision-making, empowering patients and helping healthcare systems use the most appropriate treatments.

To support the uptake of genetic testing, EuropaBio propose a set of 12 policy principles and associated recommendations across the following areas:

• Regulatory pathways
• Funding and access
• Infrastructure and workforce
• Ethics and society

EuropaBio invite policy-makers and other relevant stakeholders to engage with us on this topic and unlock the path of innovation for next generation medicines to the benefit of European patients, healthcare systems, and society.

• Principle 1: Regulatory frameworks should not be contradictory. They should be adapted to appropriately assess available evidence for novel technologies.
• Principle 2: Value assessment evidence requirements for innovative tests should be aligned and harmonised across the EU. This requires dialogue between regulators, HTA bodies, payers, physicians, innovators and patients.
• Principle 3: Decision makers at all levels should coordinate to prevent access delays to screening and testing.
• Principle 4: Decision makers should consider the benefits of testing and screening to patients, society and the medical community, including long-term cost savings and the value of knowing for patients, when assessing technologies, diseases or biomarkers to inform funding and coverage decisions.
• Principle 5: Decision makers should define clear value considerations for diagnostic technologies, including for tests which are not associated with a particular intervention and RWE accepted where appropriate.
• Principle 6: Responsibility for funding of diagnostics and screening lies with public health bodies, but industry may have a role to play in certain situations. Specific budget should be allocated for testing, anticipated via horizon scanning and integrated with other healthcare budgets.
• Principle 7: Investments in infrastructure, including in data analytics services, electronic health records, diagnostic equipment and laboratory capacity are needed to scale up testing and screening programs in the clinical setting.
• Principle 8: Healthcare professionals, including non-specialists, must be trained on screening and testing to increase uptake/ prescription and correct application and interpretation of tests.
• Principle 9: Diagnostic screening or testing should be available when a treatment is available. To allow patients to benefit from a treatment as soon as possible, the environment should be prepared in advance of the treatment’s availability. Coordination between regulators, HTA, payers, policymakers, manufacturers, physicians, and patients is needed to make tests available with diagnosis and treatment guidelines available.
• Principle 10: A positive test result should lead to clear action, such as treatment, management or lifestyle changes.
• Principle 11: Populations (age- or risk-based) should be screened where the best clinical outcome arises from intervening before the patient shows symptoms.
• Principle 12: Testing for genes or biomarkers that indicate risk of developing disease should be based on informed consent and be available to individuals for whom there is evidence that identifying risks can improve outcomes.

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