5. Disclosure

There is much debate about how researchers should disclose results to individuals who take part in genetic research.

There are many publications on disclosure in genetics research. These include international ‘ethic/legal’ guidelines (that include advice on both ethical and legal issues) and policy documents from all kinds of organisations. There is also a lot published on how to disclose results specifically from pharmacogenomics and pharmacogenetics research.

A goal for a research project may be to examine how genetic differences or variations in people can affect a certain disease or treatment. Such research may have two findings, called pertinent and incidental findings. These findings may bring about results that are important to the health of the individual person (pertinent findings). Or, they may bring about results that can be important to an individual person’s health in an unexpected way (indicental findings). Incidental findings might be that the person might be at high risk of a disease that the initial project did not plan to look into (an example could be via whole genomic sequencing technology).

There may be both disadvantages and benefits to a person who takes part in research if information is disclosed about the person’s health.

There are several things that should be considered:

  • A research project result is per definition ‘exploratory’. This means that the result will likely need to be confirmed by a clinical laboratory (which has strict quality standards). However, in many cases, this will not be possible. And because the results are exploratory, they need to be properly understood by individuals who take part in the research (if they are given the findings).
  • Is the result clinically significant (could it actually affect health?), and how serious is the condition concerned?
  • What treatments or preventive action (such as changes to diet), if any, are available?
  • How should an individual’s ‘right not to know’ be protected (that is, they may not want to know about their risk of getting certain diseases, especially when no prevention or treatment is available)?(1)
  • How should researchers handle results if their significance is unclear? That is, genetic variations that are not yet proven to be important to health.
  • What should happen if new scientific knowledge reveals that certain genetic information becomes significant after it has been obtained?
  • Should people who took part in the research be re-contacted with this new information?
  • Is there a privacy problem if research information is disclosed? For example, once a genetic test result is on someone‘s medical record, might this be accessible to insurers or employers? Does the individual taking part in the research have concerns about this?

A good process of informed consent (see section 4 above) should take into account all of these points. The responsibilities of researchers must be clear, as well as the wishes of the individuals who take part in the research. Anyone who takes part in research must have accurate and clear information about what to expect.

(1) Dondorp and de Wert 2013. The “1000-dollar genome”: and ethical exploration. European Journal of Human Genetics 21:S6-S26.