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Do new privacy laws place more hurdles on the path to precision medicine?

What is precision medicine

According to the American Cancer Society, “Precision medicine looks at how a specific gene change (gene mutation) might affect a person’s risk of getting a certain cancer or, if they already have cancer, how their genes (or genes in their cancer cells) might affect treatment.” (1). 

More simply put, precision medicine looks into tailoring medical treatments to the individual characteristics of each patient. The term “precision medicine” is often interchangeably used with “personalized medicine”. One can wrongly conclude that it means that each patient will be treated differently from every other patient. This is not the case. Instead, the “precision” approach focuses on patient subpopulations that differ in their susceptibility to diseases or their response to a specific treatment(2)

Source: National Cancer Institute (NCI)

Where do we stand now

Exactly ten years passed since the publication of the roadmap “Toward Precision Medicine” (TPM) by the USA National Research Council (3).

Since then, the number of published papers on precision medicine is steadily growing: from 4 in 2011 to 4288 in 2021, totaling 26,848 papers. Does it mean that the wide application of precision medicine in regular clinical practice is within hand’s reach? Not exactly. One of the pillars of the TPM is a call for the development of the “individual-centric” approach:

” The Committee is of the opinion that “precision medicine,” designed to provide the best accessible care for each individual, is not achievable without a massive reorientation of the information systems on which researchers and health-care providers depend: these systems, like the medicine they aspire to support, must be individualized. “

As they convincingly explained:

“The various databanks curated by NCBI generally only contain a single disease parameter and even if multiple pieces of information from an individual make it into multiple databanks—say a breast cancer patient’s transcriptome stored in the GeneOmnibus database of published microarray data and information about her chromosome translocations in the Cancer Chromosome databank—they are not linked between databases. An independent researcher, who was not involved in the study that contributed these entries, has no way of knowing that they are from the same individual. As a consequence, relationships between multiple parameters that determine disease status in a given individual are impossible to extract.”

However, following such a recommendation now, in the climate of raised privacy concerns, seems but a distant dream.

One of the suggestions outlined in the TPM, as a means towards “individualized” databases, is opening a door to “allow patients to give broad consent for future studies whose details remain unspecified”. In the USA, in 2019 (eight years after the TPM publication), The Federal Policy for the Protection of Human Subjects introduced broad consent as a new category of informed consent (4). In the EU, the final text of the GDPR (General Data Protection Regulation), in 2016, allowed broad consent, but only after strong lobbying by genomic research organizations (5).

But then, only a year after, the EU partially reverted its position by putting additional constraints on broad consent (for the overview of other GDPR-related problems, see, for instance https://www.judiciary.senate.gov/imo/media/doc/Layton%20Testimony1.pdf).

So, it took almost a decade to lukewarmly introduce a legal framework for just one preliminary step needed for the full implementation of precision medicine.

The way forward

Certainly, privacy concerns are not the only, and maybe even not the major contributing factor in the slow adoption of precision medicine.

But, as pointed out on numerous occasions (e.g. 6, 7), paying more attention to data quality and interoperability, can significantly speed up the progress in healthcare.


1. https://www.cancer.org/treatment/treatments-and-side-effects/treatment-types/precision-medicine.html  Last Revised: April 24, 2020

2. PCAST (President’s Council of Advisors on Science and Technology).  2008. Priorities for Personalized Medicine. President’s Council of Advisors on Science and Technology, September 2008 [online]. Available: http://www.ostp.gov/galleries/PCAST/pcast_report_v2.pdf
3. https://www.plengegen.com/wp-content/uploads/4_Toward-Precision-Medicine.pdf
4. https://dx.doi.org/10.31486%2Ftoj.19.0088
5. https://doi.org/10.1186/s40504-019-0096-3
6. https://doi.org/10.1038/s41746-019-0158-1
7. https://doi.org/10.1038/s41437-020-0303-2

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