Researchers Recommend Ethics Guidelines for Whole-Genome Research

Earlier last year, an interdisciplinary team of scientists met at a workshop to discuss the ethical issues related to whole-genome sequencing, particularly as it relates to human-genome research. The goal of the workshop was the develop an ethically rigorous and practical guide for scientific investigators and research ethics boards involved with human-genome research projects. At the workshop, the researchers identified four high-priority topics. These topics included:

  • consent
  • withdrawal from research
  • return of research results
  • public data release

There are many legal and ethical obligations related to human-genome research. Often, when participants agree to participate in a study involving sampling their DNA, they may not realize that their sequenced DNA may be involved in research studies beyond the one they signed up for. For example, DNA sequenced for a cancer study may later be used in a completely different study. One “problem” with current human-genome studies is that once an individual’s DNA is sequenced, it is often released into a publicly-accessible database. This information could theoretically be used by health insurance companies to determine whether or not to give you coverage. One of the major recommendations of the workshop attendees was that participants in genome-studies must be able to rescind their consent to participate at any time. At the same time, the researchers recognize that this may in some cases be impossible, given how quickly (and how far-reaching) information is disseminated. It may be necessary to regulate how the sequenced DNA of individuals is used and who exactly has access to the data.

Another ethical issue related to human-genome research is related to the findings that researchers discover from sequencing an individual’s genome. Many times, participants are told that they will not receive any information from the researcher’s about their genetic information. An ethical dilemma arises if there is information in the individual’s genetic information, such as a propensity toward the development of cancer or other disease, that if told to the participant, could have far-reaching consequences on their health and well-being (and possibly the health and well-being of their offspring as well). Researchers recommend that ethics boards develop criteria to determine when a participant should be told about certain aspects of their genetic information gleaned from sequencing their DNA.

A third ethical issue relates to the release of genetic information for use by scientists in publicly-accessible databases. One major problem with this is that once data is released into the public domain, it is basically impossible to rescind the release. Thus, even if a participant later requests to withdraw their genetic information from a study, it may be impossible to delete all their relevant data. Researchers recommend that when procuring a participant’s initial consent, they be informed that their genetic information is likely to be publicly available, and it may be impossible to remove their information from the public domain once it has been released. The workshop participants also recommended that scientists weigh the benefits and drawbacks of releasing participants’ genetic information to publicly-accessible databases with the participants’ privacy.

Given the vast number of questions scientists have about the human genome, the need for participants remains as high as ever. However, as more people become involved in these studies, there more there needs to be standards and guidelines to deal with the ethical issues that arise from genetic research. The workshop participants hope that their recommendations can serve as a starting point, though more empirical evidence and analysis is needed. As noted in an article about their recommendations, the researchers note that “the door must remain open for further reflection on these and other social concerns.”

Recommendations arising from the workshop were published online in the March 25, 2008 edition of the open-access journal PLoS Biology .

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