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Genomics: decoding the future

Fifteen years ago, the first rough draft of the human genome was completed by the Human Genome Project. Fifteen years from now, such understanding of our code of life will be a seamless and integral part of medical practice.


Which means that now, we are right in the middle of the genomic revolution.

That said, it might not necessarily feel like it. Firstly, there’s a swathe of opinion saying healthcare is not ready for genomics, then there’s the emotionally-charged debates about the ethics of changing someone’s DNA.


More practically, genomics - the study of our genetic code- is also primarily restricted to early-adopters, and while it’s picking up quickly, on a disease-by-disease basis, if it is to become a truly mainstream option, it will need to be tied into the everyday business of healthcare: based on integrated patient data, embedded into clinical pathways, supported by real-world evidence and reimbursement models.


Converting integrated imaging, pathology and genomic data into clinically actionable information is a daunting task. That includes electronic medical record systems that aren’t designed to deal with rich information, such as DNA, images and pathology, and the complexity of decoding and annotating the genomic information. There is also the challenge of physicians who would need further genetic training, and ensuring they can keep up with the pace of publications of clinical research with genomic components – currently thousands each week in cancer alone.


Though challenging, these barriers are not insurmountable and they are already being tackled by initiatives in advanced diagnostic centers around the world. With today’s digital and connected technologies we have great opportunities to translate genomics into widely applicable validated clinical practice.


Philips is contributing to the work by bringing genomic data, integrated with other modalities such as imaging, electronic medical records and digital pathology, into our HealthSuite digital platform. Integrating and interpreting genomic data in the clinical environment requires particular handling to provide confidence in the results, such as being able to reproduce an analysis from the past (reproducibility), and detail the particular steps in finding an answer (traceability).

Genomic findings are most useful when presented within the clinical context of a patient – the relevant personal attributes and medical history, along with radiology images and pathology findings. Additionally, these findings must be presented at the right point of the doctor’s and patient’s decision-making process. As this information is highly complex it requires smart interfaces to interpret the data and advanced visualization to present the result in an optimal way for clinical decision making and patient guidance. Although this is but a step in a pathway, we believe it will substantially enhance the utility of these findings in care decisions.

Fifteen years from now, we expect doctors to have ready access to their patient’s genetic information in routine care settings where medicine will be truly personalized. After all, it doesn’t get more personal than basing healthcare on the combination of your lifestyle and environment, married to your own, unique life code! Healthcare practitioners will use the information to guide patients towards longer, healthier lives, intervening at all the right moments in your personal health continuum.


To make any of this possible, the next steps involve making genome sequencing and analysis routine; implanting genomics in current reimbursement models; encouraging larger, more comprehensive studies; addressing fears about privacy; and convincing people to take the plunge and find out what their genes hold in store. This won’t be accomplished overnight – not everyone will want to know about their predisposition for contracting an illness that the medical industry of the day can do little about (e.g. Alzheimer’s) – but for many of us, it could well be the case that fore-warned is fore-armed.


We need to bring together patient associations, clinicians, policy makers and industry to co-create the future and address both opportunities and challenges. Fears that the health system isn’t ready and visions of data-deluged dystopias, though understandable, do little but halt discussions. Instead, today, what we need is conversation and collaboration, working together to develop the health infrastructure so it can embrace everything genomics can and will bring.


To read the full post, please visit: LinkedIn

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Jeroen Tas

CEO, Healthcare Informatics Solutions and Services Philips

Jeroen Tas has more than 30 years of global experience as an entrepreneur and senior executive in the financial services, healthcare and information technology industries. Currently he is the CEO of the Philips Healthcare Informatics Solutions and Services Business Group.


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