Personal health information refers to demographic information, medical history, test and laboratory results, insurance information, and other data that a healthcare professional collects to identify an individual and determine appropriate care1. In the past decade or so, some of the tests and techniques used to collect personal health information have become publicly accessible. For example, private companies now offer genetic testing and genome sequencing to anyone able to pay. At the same time, there has been an explosion of wearable health monitoring devices. Given this revolution in personal health technology, important implications for individuals, the practice of medicine, and privacy must be considered.
The human genome was sequenced for the first time in 2003 – an endeavour that took 13 years and cost $2.7 billion2. Today, the cost to sequence an individual human genome is approximately $1000 and takes 1-2 days. One company, which has already sequenced an estimated 500,000 human genomes, is hoping to drop that price down to $100 in the future3.
Biotechnology has never been more accessible. Aside from genome sequencing, one can spit in a tube and mail it to a lab that partially sequences their DNA and sends back information on ancestry and disease risk indicators – all for the low cost of $150-2504. For those more interested in monitoring their daily health and lifestyle risk factors, there is an array of wearable technologies that will do just that. These devices are usually worn on the wrist, and can monitor movement, sleep, even heart rate (sometimes with questionable accuracy). Companies are also working on wearables that monitor blood pressure and blood sugar non-invasively5. In addition, individuals have their pick of apps that will analyze their diet. Along with the biotechnologies described above, these technologies carry incredible promise, but also raise ethical questions and privacy concerns.
The most promising application of such detailed personal health information is in the area of personalized medicine. For example, in pharmacogenomics, which is the study of how genes affect a person’s response to drugs6. It has been known for some time that individuals respond differently to the same drug. Some people might respond well to the drug, a few might have serious adverse side effects, and one or two might be allergic. As such, pharmacogenomics has the potential to improve medication selection, dosing, and drug development. Additionally, health-monitoring information may lead to earlier diagnosis of health problems and better management of existing conditions7. It has been suggested that personalized medicine will also lead to waste reduction in healthcare. Instead of simply providing more medical care, we will be able to provide more appropriate and targeted care6.
Though the promise of personal health technology use for personalized medicine is great, there are significant risks involved. Protecting privacy will be a primary concern as technology continues to proliferate. The sheer volume of information to be stored and protected is enormous, and will be probably be digital, which leaves open the possibility of hacking.
An individual’s sequenced genome is extremely sensitive information. What can the companies providing the sequencing service do with this data? The Human Genome Project, which first sequenced the human genome, was a public project. However, prior to the 2013 U.S. Supreme Court ruling that naturally occurring human genes cannot be patented, 4300 gene patents had been filed8. Gene patents are currently allowed in other countries though, including Canada9. What impact does this have on the practice of medicine? What does it mean for individuals and their personal health information? These questions will need to be answered in the coming years.
Another risk is the effect of the information on the individual receiving it. Related to privacy, there have been instances where people have discovered unknown relatives through DNA testing – cousins, siblings, even parents. There have also been reports of individuals using this service to find their anonymous sperm donors, who may or may not want to be found10. These discoveries can uncover deception in families and cause strife and stress. Should such sensitive information be available to anyone using the sequencing service? Default privacy settings for most companies are open to other users, though they can be changed to private.
Another consequence to consider is how individuals will handle learning about their health or disease risks. Currently available DNA testing kits test for genetic markers for Celiac disease, Parkinson’s, and late-onset Alzheimer’s, among other less well-known conditions4. Are individuals health-literate enough to understand the information they’re being provided? For example, a test result indicating that an individual has one or more ∈4 variants in the APOE gene simply states that the individual may have an “increased risk of developing late-onset Alzheimer’s disease.”4 However, they fail to provide detailed information regarding this risk. Studies have demonstrated that the odds ratio, a measure of association between an exposure and an outcome, ranges from 2.6-14.9 depending on one’s exact genotype, and is modified by sex and ethnicity.11 This type of information is complex and is why genetic testing information provided within a healthcare system is usually provided by a genetic counsellor. To offer such sensitive and potentially life-altering information without personal follow-up may have adverse effects on individuals.
For now, one of the few Canadian laws to deal explicitly with genetics, the Genetic Non-Discrimination Act, makes it illegal for an employer or anyone else to require an individual to undergo genetic testing or provide results of past genetic tests in order to be eligible for employment or to receive a service12. That being said, the industry creating wearable health monitoring technologies and doing DNA testing is unregulated in Canada, which means that although their use of personal information is governed by the Personal Information Protection and Electronic Documents Act (PIPEDA), there is no oversight to ensure compliance with legislation12.
In conclusion, personal health technology holds great promise in the field of personalized medicine, but it is not without its risks. Protecting individuals’ rights and privacy will be a significant challenge if the promise of individual genome sequencing and health monitoring is to be realized.
- Government of Ontario. (2017). Personal Health Information Protection Act, 2004, S.O. 2004, c. 3, Sched. A. Retrieved from https://www.ontario.ca/laws/statute/04p03#BK5
- National Human Genome Research Institute. (2010). The Human Genome Project Completion: Frequently Asked Questions. Retrieved from https://www.genome.gov/ 11006943/human-genome-project-completion-frequently-asked-questions/
- Forbes. (Jan. 9, 2017). Illumina promises to sequence human genome for $100 – but not quite yet. Retrieved from https://www.forbes.com/sites/matthewherper/2017/01/09/ illumina-promises-to-sequence-human-genome-for-100-but-not-quite-yet/#6101cad5386d
- 23andMe. (2018). https://www.23andme.com/en-ca/dna-health-ancestry/
- CNBC. (November 5, 2017). What smartwatches and other wearables can’t track today – but might in the future. Retrieved from https://www.cnbc.com/2017/11/05/wearables-future-track-glucose-blood-pressure-mental-health.html
- Vogenberg, F. R., Isaacson Barash, C., & Pursel, M. (2010). Personalized Medicine: Part 1: Evolution and Development into Theranostics. Pharmacy and Therapeutics, 35(10), 560–576.
- Bonato. “Advances in wearable technology and its medical applications,” 2010 Annual International Conference of the IEEE Engineering in Medicine and Biology, Buenos Aires, 2010, pp. 2021-2024. doi: 10.1109/IEMBS.2010.5628037
- U.S. National Library of Medicine. (2018). Can genes be patented? Retrieved from https://ghr.nlm.nih.gov/primer/testing/genepatents
- CTV News. (March 20, 2016). Status of gene patents in Canada unresolved, despite successful challenge. Retrieved from https://www.ctvnews.ca/health/status-of-gene-patents-in-canada-unresolved-despite-successful-challenge-1.2824957
- CBC News. (January 31, 2018). The privacy implications of DNA testing kits that can ‘alter your life.’ Retrieved from http://www.cbc.ca/news/canada/nova-scotia/dna-testing-privacy-terms-and-conditions-1.4508488
- Farrer, L.A., Cupples, L.A., Haines, J.L., Hyman, B., Kukull, W.A., Mayeux, R., Myers, R.H., Pericak-Vance, M.A., Risch, N,. van Duijn, C.M. (1997). Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer Disease: A meta-analysis. JAMA, 278(16):1349–1356. doi:10.1001/jama.1997.03550160069041
- Office of the Privacy Commissioner of Canada. (2017). Policy statement on the collection, use and disclosure of genetic test results. Retrieved from https://www.priv.gc.ca/en/ privacy-topics/health-genetic-and-other-body-information/s-d_140710/
- Nicola. (2013). ND0_4287 – Caledos Runner on Lumia 820 [Online Image]. Retrieved March 24, 2018 from https://www.flickr.com/photos/15216811@N06/8349232606
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