Genomic Medicine Transforms Healthcare

Building evidence for genomic sequencing

A series of articles on genomic medicine published on 5 August 2019 in The Lancet reviews the opportunities, challenges, resources, and techniques for application of next generation sequencing in healthcare.

In cancer, genomic profiling of tumours is becoming routine to predict response to therapies; molecular biomarkers for precision medicine were included in 39% of global oncology trials in 2018.

The exciting and maturing area of genomic medicine, encompassing the use of genetic information to inform medical care or predict risk of disease, is beginning to transform healthcare. In the articles, authors from the US National Human Genome Research Institute at the National Institutes of Health present an overview of efforts to implement genomic medicine, including contemporary tools and resources; the role of pharmacogenomics in drug safety and efficacy; the application of genomics to identifying rare and undiagnosed diseases; enhancing risk assessment through family health history records; and improving the collection of outcomes and evidence to better incorporate genomic techniques in clinical care.

The first human genome cost about 3 billion USD to sequence. A whole human genome can now be sequenced for under 1000 USD, and for even less it is possible to read targeted parts of the genome or the protein coding part.

In the UK, the 100 000 Genomes Project has driven this transformation process and led to the establishment of a new National Health Service (NHS) Genomic Medicine Service. Over the next 5 years, 500 000 whole genome sequences will be deployed in routine care for rare diseases and cancer based on an annually reviewed NHS National Genomic Test Directory.

The Lancet Series highlights a range of US federally funded initiatives or academic–industry partnerships implementing genomic medicine, including those of the National Human Genome Research Institute and the Geisinger MyCode initiative.

In other countries, large scale often national programmes are being established, such as France Génomique, Genome British Columbia, Australian Genomics, and the Genome India Project.

The Lancet Series describes the challenges in the interpretation of genomic variants for clinical use, such as maintaining confidentiality, minimising the potential for genetic discrimination, long-term management of patients with important genomic findings, appropriate training of the medical team, and improving the regulatory environment. It is vital that standardisation of clinical and genomic datasets is established at the outset using internationally accepted standards, such as those provided by the Global Alliance for Genomics and Health, to facilitate international data sharing.

New bioinformatics infrastructure and genomic resources have been developed to focus and accelerate analysis.

Education and training of professionals across healthcare is key. New ways of working are often required, whether to remodel tissue handling pathways to obtain genome-friendly (formalin-free) tumour samples or to efficiently identify and report actionable genomic variants with new multidisciplinary teams. Increased human capacity is needed. In the UK, there has been investment in Health Education England’s Genomics Education Programme.

As this Lancet Series emphasises, genomics is now an essential part of high-quality patient care in rare disease, cancer, and those areas of mainstream medicine where pharmacogenomics and the need for precision diagnostics is growing in importance.

Building evidence for genomic sequencing to individualise preventive care strategies, improve early diagnosis of genomic syndromes, and to tailor therapeutic plans will require an extensive international effort to recruit and follow up large and diverse study populations for clinical outcomes. Increased emphasis on implementation research will help achieve the necessary scale and identify sustainable strategies for accelerating the adoption of guideline-recommended practices.

The authors wrote that genomic technologies and understanding of genomic variants are continuing to move from the research setting to clinical care in incremental steps that should be viewed as more of an evolution than a revolution. As potential clinical applications of genomic research arise, implementation research is needed to identify the best strategies to promote rapid adoption, scale-up and sustained integration of these applications into routine clinical care, with the aim of improving patient outcomes.

Patients are increasingly able to access resources online, and patient support and advocacy groups such as the Genetic Alliance have been effective in directing patients towards appropriate clinical care.

Additional training and certification could be offered by medical institutions to develop consulting genomic medicine subspecialists in various medical disciplines, e.g. oncologists with expertise in cancer genomics. Even for the non-specialist practitioner, the adoption and usefulness of genomic information will continue to grow. Clinicians need to increase their understanding of genomic medicine. 



The Lancet Series on Genomic Medicine. Published on 5 August 2019.