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Opinion: Direct-to-consumer epigenetic tests are not getting enough scrutiny

The direct to consumer (DTC) genetic test market has seen a decline recently over privacy concerns, but private companies such as Chronomics, EpigenCare, and MyDNAge have started to offer DTC epigenetic testing (DTC-ET). Companies claim that epigenetic variants can be associated with a variety of predictors for health and well-being, however, the promotional marketing and ethical and legal issues associated with making such claims is being overlooked in the usual DTC scrutiny.

In a Nature comment article, the authors discuss the ethical and legal issues arising with this new type of DTC test. A summary of which can be found here:

Medical relevance

Most of the companies providing DTC-ET tests are advertising them as providing medically relevant information which consumers can rely on to improve their health. This, however, could cause problems as consumers can overestimate the relevance of the test being offered, none of which have FDA approval or shown sufficient evidence of clinical utility. Where a promotional message overstates the medical relevance of the test, it can hinder informed consent and result in an incorrect interpretation by the user – for instance, by creating unrealistic expectations of health benefits from adapting their behaviour. These concerns have led some countries such as Germany and France to prohibit DTC tests.
Despite some of the DTC-ET companies adding disclaimers in their policies that the results of the tests should not be considered as diagnostic, and any changes to health behaviours should be consulted by a clinician, the websites also present the tests as being actionable.

Sensitivity of information

Like with genetic tests, epigenetic tests may provide the users with sensitive information about their increased risks of disease, but also about their lifestyle choices. An example of this is where DTC-ET reveals a person’s smoke exposure history and the increased risk of developing smoking-related diseases. Future DTC-ET tests may be able to provide information about a person’s exposure to stress, alcohol, toxic chemicals (such as pollution or illicit substances) and this will be a new level of sensitive information that would not be accessible by genetic tests.
This type of lifestyle information raises two major privacy concerns: who should be allowed to access this information and under what circumstances? This could give people insights into private information. For example, parents may be able to find information regarding whether their teenager smokes, or individuals may learn about their parent’s exposures during pre-, peri-, or post-conception which has influenced their risk of disease.

Data protection challenges

Data protection has recently been a major concern that has influenced the fall in DTC-genetic testing. There has been increasing evidence that suggests some combinations of epigenetic data may be identifying and convey sensitive information about individuals. A study has shown that epigenetic information could be matched to de-identified data contained in a clinical research database, making it feasible to deduce sensitive information about an individual.
Additionally, genotype inference is possible using DNA methylation data.
This raises privacy concerns and begs for specific data protection strategies for epigenetic data, especially when combined with clinical and genetic data in multi-omic databases. Most DTC-ET companies do not explicitly state whether they consider epigenetic data as “personal”, which raises concerns of regulatory regimes and data governance standards that are usually applied to ensure privacy protection.

Non-discrimination laws

Many countries have implemented genetic non-discrimination policies, but these do not contain explicit rules prohibiting discrimination based upon an individual’s epigenetic information. DTC-ET companies will need to be accountable for this, where there may be potential misuse of the absence of legal protection for their users against epigenetic discrimination.

The comment calls policymakers to reflect on whether genetic non-discrimination statutes apply to different epigenetic data types. For example, can epigenetic age estimators that assess health and lifespan be used in life insurance underwriting?

It also highlights that there is a need to evaluate and consider the effects of epigenetic discrimination on participation in epigenetic research, or the eventual update of prescribed-epigenetic tests.

Finally, it is worth mentioning that other DTC companies are also offering microbiome tests, which with the increasing evidence of how the microbiome influences health, has similar concerns.