Team Zorg Enablers
Published on
Trends | Diagnosis


“Your genome knows much more about your medical history than you do”

W. Daniel Hillis


It is increasingly easy for consumers to map out and understand their own genes, without the intervention of healthcare professionals [1]. With the term ‘omics’, we refer to scientific fields that deal with themes such as DNA (genomics), intestinal flora (microbiomics), metabolism (metabolomics), proteins (proteomics) or RNA (transcriptomics) [2]. Since the mid-twentieth century, a great deal of research has been carried out on the human genome and other related fields of research. Examples include the ‘Human Genome Project’, the ‘100.000 Genomes Project’, the ‘Human Microbiome Project’ and the ‘Human Metabolome Project’ [3-6]. Thanks to technological progress, this knowledge and research is becoming increasingly accessible to the ‘man in the street’. For example, 23andMe was one of the first to make a breakthrough by offering personal DNA profiles in the USA and Europe. Despite a ban by the FDA in 2013 on selling genetic test kits, approval was nevertheless gained in 2015 [7].


Applications & benefits

Having insight into genetic profiles offers great possibilities for healthcare. Tests provide people with knowledge about issues such as genetic disorders, and help them to make conscious lifestyle choices. This research can also support patients and professionals with respect to finding optimum medication dosages [8], and consumers can take a proactive approach to their own care and health. It is also possible to find out more about people’s family history and use this information for preconceptional screening [8,9]. Finally, the progression and interaction of diseases can be unravelled so that faster and better diagnoses and treatments can be developed.



The worldwide market for personal health genetics is growing rapidly [10]. As the incidence of genetic disorders such as cancer is increasing and interest in health and healthy lifestyle choices is growing, people are trying to find solutions themselves. There is also an increasing number of companies offering various types of tests [11,12]. These tests, however, vary greatly with respect to target group and quality.


Driving forces

The growing market is being driven by further developments:

  • For example, there are more and better, high-throughput techniques available that make it possible to assess genetic material increasingly quickly and cheaply. It is expected that ultimately it will be cheaper to sequence all genes rather than just a few [8,13,14]. Originally it cost $3 billion to map a person’s entire genome; now this is less than $1000 and companies are striving to achieve a test costing only one hundred dollars [13,15,16].
  • New applications are possible thanks to increasing knowledge about genetics and the influence of the genome on chronic diseases [17]. Furthermore, Big Data technology is making it possible to process the large amounts of data involved [8].
  • Strategic alliances between major players in the fields of biopharmaceuticals, genetics, laboratories and university medical centres are propelling the consumeromics market to new heights. The 23andMe service, for example, formed a collaboration with Pfizer, Google’s Calico Life Sciences with AncestryDNA, and Helix has been working with various organisations, including the Mayo Clinic [18], for some time now.
  • There is growing acceptance of test kits among consumers. The project ‘Socialising the Genome’ by Genomics England, for example, is stimulating discussion among a wide general public on the subject of genomics, and the subject is becoming less complex [11,16,19,20].

New technological capabilities
Growing connectivity and improved data infrastructure
Growing investments in healthcare technology

Hindering forces

Data leads to misinterpretation
A call for evidence
Increasing emphasis on privacy sensitivity

Despite the attractive market, the largest obstacle for consumeromics is the misinterpretation of data. This is due to the fact that there is no intervention from healthcare professionals and not all consumers understand the results properly. They can make important decisions about their health based on information that may be incorrect, incomplete or misunderstood [9,16,21,22]. The accuracy, reproducibility, interpretation and reporting of the technology’s findings do not always meet the required standard [8,11,19]. Another risk is that consumers are deliberately misled as a result of financial incentives [19]. It is also possible that companies share personal data with third parties. There is little transparency, and much uncertainty with regard to security, privacy and the commercialisation of consumer information [23]. It is important that healthcare professionals keep up with the rapidly moving field of consumer-omics. They must be aware of the possibilities and risks in order to be able to answer patients’ questions [24].



Consumer-omics will play a major role in western healthcare in the future, and the diagnostic process will change. People are becoming more aware of their health, health risks and how they should deal with them [25]. Ultimately, the role of healthcare will shift from a largely reactive model to a proactive model whereby consumers use the information they have to make personal choices with regard to lifestyle and other interventions in order to reduce the risk of health problems [26].


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