Professor Christian Munthe is professor of practical philosophy at the University of Gothenburg, undertaking expert consultancy and research on ethics, value and policy issues in the intersection of health, science and technology, environment and society. He has published widely in bioethics and public health ethics, especially on the clinical application of genetic technology and knowledge, and current work concentrates on the areas of psychiatry, person-centred care and antibiotic resistance. He is also engaged with the Swedish Society of Medicine, and the priority setting of new pharmaceuticals within the Swedish national health services.

Dr Jayne Spink has more than a decade’s experience in the third sector, formerly as CEO of the Tuberous Sclerosis Association and Director of Policy & Research with the Multiple Sclerosis Society. She has a BSc and PhD in Genetics with postdoctoral research experience. After leaving the research bench, Jayne worked for the Department of Health in Clinical Quality, Ethics and Genetics and has served as an Associate Director for the Centre for Clinical Practice at NICE. In April 2017 Jayne joined Genetic Alliance UK, a UK charity and umbrella group comprised of 240 third sector organisations, that in turn variously provide support, information and funding for research. Genetic Alliance UK is home to Rare Diseases UK which campaigns on behalf of all those affected by Rare Conditions, and SWAN UK, providing support to families affected by “syndromes without a name” which are of likely genetic origin. Jayne Spink – The Role of Patients in Resource Allocation Decision Making in Genomic Medicine Our ability to capture and ride the tidal wave of benefits predicted of genomic medicine will depend on our readiness to fundamentally rethink our approach to healthcare resource allocation decision making. A growing number of hitherto untreatable, and frequently lethal, rare diseases are becoming increasingly amenable to treatment. In some instances, such diseases are now essentially curable. This scenario would have been unimaginable only a few years ago. The methodologies of health technology assessment and the decision-making processes relating to resource allocation were not designed in the context of rare diseases and struggle to take into account the value of innovation. We urgently need a coherent approach that is efficient and proportionate, where decision-making is open and transparent, and where the voice of patients and families is supported, valued and demonstrably impactful.

Dr Inês Amado gained her doctorate in immunology. She is a former project manager of the Tech Transfer Consortium of Aviesan (French National Alliance for Life Sciences and Health) on Biomarkers & Companion diagnostics. Since September 2017 Inês has been Deputy Director of the Thematic Institute for Health Technologies at Inserm (French National Institute of Health and Medical Research) and Aviesan and she is the current project manager for the 2025 Genomic Medicine France Plan. Inês Amado – Médicine France Génomique 2025: Developing Genomic Medicine in France The French Plan for Genomic Medicine 2025 was commissioned in 2015 and implemented by Aviesan (the French National Alliance for Life Sciences and Health) in 2016. The aim is to foster the integration of genomic medicine into France’s healthcare system bringing together healthcare, research, training and industry. To meet these challenges, we proposed a transformative ten-year plan that will improve quality of life, drive scientific and technological innovation and promote economic growth. The French Plan is based on 14 operating measures. Genome sequencing will be performed by 12 ultra-high-throughput sequencing platforms covering the whole country, two of which have been launched in 2018. Of the €670M invested in the first five years, around €230M will come from industry. The French Plan includes the creation of an ambitious industrial sector that will constitute a new source of economic development and employment.

Translating genomic tests into clinical practice in the UK NHS: Is the health economics evidence base there yet? Evidence is emerging that the use of genomic tests may improve the diagnosis and treatment of genetic disease, leading to better health outcomes for individuals with cancer or a rare disease. However, demand is increasing for evidence on the incremental costs and health outcomes associated with these technologies compared with current practice to ensure that they are not merely an expensive and inefficient add-on to current clinical practice. In this presentation we will consider what health economic evidence is likely to be required to support the translation of genomic tests into clinical practice. We will then provide examples of the evidence that is currently available, describing UK studies that have estimated the cost of genomic testing and quantified stakeholder preferences for these tests. We will conclude by considering future opportunities for evidence generation, in particular the use of ‘big data’ from initiatives such as the 100,000 Genomes Project.

Ellen is Deputy Director, Genomics at NHS England, a post she has held since 2017.