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When the Human Genome Project was declared complete back in 2003, there were high expectations set for genomic medicine. However, it has taken over a decade to begin moving from vision to reality. Today, the number of success stories remains relatively small, but they do stretch across the healthcare ecosystem, incorporating the prediction of drug responses, the diagnosis of diseases and the identification of targeted therapies. Stakeholders ranging from patients, healthcare providers and payers, researchers, diagnostic companies, policy-makers, life sciences businesses and governments now believe genomic medicine to be a potential game-changer (1).
The challenges facing the industry are well-documented, and embracing genomic approaches across the entire value chain represents a transformational opportunity for pharma companies (2). Three forces are driving this optimism: innovation in biology and technology, consumerism and market demand.
Biotechnology Innovation
Currently, highly specific panels of genes are being used in oncology testing. Such panels check for the expression of multiple genes known to be associated with certain cancers (3), and today, pharma has an increased understanding of complex pathways to assist in the development of targeted drugs. Additionally, the finding of new biomarkers can be used for a wide range of molecular diagnostics and drug identifications, and can also provide more specificity for product development. Innovative clinical trials can lead to accelerated approval of targeted drugs that meet the criteria of efficacy, utilisation and cost-effectiveness.
Technological innovations – such as high-performance computing platforms – are keeping pace with that of gene discovery and whole-genome sequencing cost and speed. Furthermore, cognitive computing allows a system to make use of natural language processing and machine learning to ingest large and ever-expanding data volumes. It can be trained to provide – with high accuracy and speed – advice that is otherwise manual, time-consuming and prone to missing available evidence. New awareness, understanding and clarification will set the stage for the discovery and generation of fresh ideas.
The New York Genome Center (NYGC) and IBM are partnering in a first-of-a-kind programme to accelerate personalised, life-saving treatment for cancer patients. Together, both organisations will test a unique Watson cognitive technology prototype, designed specifically for genomic research as a tool to help oncologists deliver more individualised care to cancer patients.
NYGC and its medical partner institutions plan to initially evaluate the Watson technology’s ability to help oncologists develop more personalised care to glioblastoma sufferers: an aggressive and malignant brain cancer that kills more than 13,000 people in the US each year. This initiative aims to speed up the process of analysing genetic data, along with comprehensive biomedical literature and drug databases, in order to unlock insights that will help clinicians bring the promise of genomic medicine to their patients (5).
Such studies enable discovery by integrating information related to problems that previously required large amounts of manual work, and whose solution attempts were potentially prone to missing evidence. The implications of improving innovation are highly relevant for the pharma industry as it seeks ways to reduce the time and cost of developing drugs that are efficacious and highly targeted.
Consumerism
The growing commercialisation of genomics is evident in the increased uptake of direct-to-consumer testing, as well as in more recent regulatory concerns and recommendations about such technologies. These have led to genomics attracting new media attention and becoming more ‘mainstream’.
The gene company 23andme launched their genetic service in the UK in December 2014 – despite violating regulatory codes for medical devices in the US. They chose the UK as it is a genomics world leader, and because the Medicine and Healthcare Products Regulatory Agency does not consider their personal genome testing kit – designed to give details about a person’s health risks based on their DNA – to be a device (6).
Market Voice
Today, there is a demand for novel ways of impacting health outcomes through innovative therapies. In the industry, there is an increased expectation and market demand for targeted drugs and tests that can offer significant benefits quickly, as opposed to incremental advantages delivered over time.
Genomics is also converging with social media, as evidenced by the sharing of health experiences and questions online. One example of this is PatientsLikeMe. com, a health data-sharing platform including blog videos on topics such as ‘The future of the personal genome’ (7). Social media tools can also be used for crowd-sourcing, which can provide supplementary data in scientific and medical research.
Improved computing power, imaging capability, the use of wireless sensors and the plethora of accessible digital health information are all part of the technological mix that is pushing genomics forward. This convergence has led to near-instant dissemination of fresh discoveries, as well as new forms of social and scientific collaboration.
Regulatory Role
As genomic medicine continues to proliferate, the importance of a solid privacy, ethical and legal framework to support the complexity of the tool will become vital.
To date, the regulator’s role in genomics has primarily been concerned with protecting consumers from a privacy and legal stand-point. In the US, The Genetic Information Nondiscrimination Act of 2008 protects citizens from discrimination based on the results derived from a genetic test. Other privacy considerations include informed consent (for both genetic testing and research purposes) and confidentiality, such as anonymising data.
Social and ethical aspects of genomic medicine will also require further attention and clarification. In the UK, a voluntary agreement – the Concordat and Moratorium on Genetics and Insurance – exists between the government and the Association of British Insurers to ensure that individuals are not debarred from health or life insurance as a result of genetic testing (8).
In Europe, the EMA has recently distributed a consultation paper intended to form the basis of good genomics biomarker practices. With this guidance, the EMA aims to enhance transparency, consistency, reproducibility and crossvalidation between genomic-driven studies, and ultimately stimulate better use of genomic data and biomarkers in medicines development and safety monitoring (9).
Becoming a Reality?
A four-year 100,000 Genomes Project, initiated by Genomics England, aims to help turn scientific discoveries about DNA and its actions into a potentially life-saving reality for patients through targeted treatments (10). In early 2014, 11 genomics medicines centres across England began collecting DNA samples, with the project due to be completed in 2017. The NHS now has the unique ability to link a person’s genome data with their complete medical records, and then replicate this at scale.
The primary beneficiaries of this project will be patients with rare diseases or cancer – but it has also been recognised that there will significant economic reward from creating a new industry based on genomics, in which pharma plays a pivotal role.
Industry Transformation
Genomic medicine can form the basis of the development of innovative clinical trial protocols, as well as the search for a novel group of precision treatments focusing on the prevention of disease or alleviating symptoms. For this to happen, senior executives of pharma companies will need to capitalise on new advances in science, cognitive computing, analytics and drug discovery, and make genomic medicine a key component of their enterprise strategy. Securing a place in the future genomic medicine environment will be a key step in the industry’s transformational journey.
References
1. Pai A, Koyama T and Lee L, The evolving promise of genomic medicine: How advanced technologies are transforming healthcare and life sciences, IBM Institute for Business Value, June 2014. Visit: www-935.ibm.com/services/us/gbs/thoughtleadership/genomicmedicine
2. Lefever G, Pesanello M, Fraser H and Taurman L, Fade or flourish? Rethinking the role of life sciences companies in the healthcare ecosystem, IBM Institute for Business Value, August 2011. Visit: www-935.ibm.com/ services/us/gbs/thoughtleadership/ibvlifesciences-fade-flourish.html
3. IBM Institute for Business Value survey, Innovation in the life sciences industry. Due to be published mid-April 2015 – contact the author for further details
4. US National Library of Medicine, National Institutes of Health, What is a genome? Genetics home reference: Your guide to understanding genetic conditions, 21 April 2014. Visit: http://ghr.nlm.nih.gov/handbook/hgp/genome
5. Life Technologies, Ion AmpliSeq™ comprehensive cancer panel. Visit: www.lifetechnologies.com/order/catalog/product/4477685
6. The New York Genome Center and IBM Watson Group announce collaboration to advance genomic medicine, March 2014. Visit: www.nygenome.org/news/in-the-media
7. Reuters, Gene company 23andme launches in UK after US regulatory hurdle, 2 December 2014. Visit: www.reuters.com/article/2014/12/02/us-health-genetics-britain-23andmeiduskcn0jg0oy20141202
8. The future of the personal genome, The Value of Openness by patientslikeme®, 21 May 2012. Visit: http://blog.patientslikeme.com/2012/05/21/thefuture-of-the-personal-genome
9. PHG Foundation, UK moratorium on use of genetic tests by insurers extended, January 2015. Visit: www.phgfoundation.org/news/16536/?utm_source=feedburner&utm_medium=feed&utm_campaign=feed%3a+phgfoundation_articles+%28articles+from+the+phg+foundation+newsletter%29
10. EMA, European Medicines Agency looks to stimulate better use of genomic data and biomarkers in medicines development and safety monitoring, 4 August 2014. Visit: www.ema.europa.eu/ema/index.jsp?curl=pages/news_and_events/news/2014/08/news_detail_002154.jsp&mid=wc0b01ac058004d5c1
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