Genome analysis poses ethical dilemmas, says European Society of
22 May 2013
The provision of services that give patients cheap whole-genome
analysis can pose ethical problems if used incorrectly, says The
European Society of Human Genetics (ESHG).
Many services based on whole genome and on exome (DNA regions
that map proteins) sequencing and analysis are now available to
patients at an affordable price, and this raises the question of how
to ensure that they are provided appropriately.
In recommendations published in the European Journal of Human
Genetics, ESHG says the use of genome-wide analysis (GWA) can be
useful for diagnosing disease, but guidance is needed on how to used
the information correctly. Its main recommendation is that
"stakeholders from relevant fields in research and the clinic should
set up structures for sharing experiences and establish testing
guidelines at local, national and international levels". It also
says that "it is preferable to use a targeted approach first in
order to avoid unsolicited findings or findings that cannot be
“Such sequencing generates huge amounts of information that needs
to be processed, analysed, and stored in a responsible manner”, said
Professor Martina Cornel, chair of the Professional and Public
Policy Committee of ESHG. “It is preferable to use sequencing or
analysis specifically targeted at a particular health problem to
avoid unsolicited findings, or those that cannot yet be interpreted,
which can cause considerable anxiety to patients and their families.
Clear guidance on how to deal with such findings is needed.”
Targeted analysis will limit such unsolicited findings, says the
ESHG, and this is particularly important at present when there are
only a limited number of clinicians properly trained to inform
patients on the significance of the results of GWAs and exome
sequencing. While the Society believes that the duty to inform
patients may outweigh their right not to know in some circumstances,
the new recommendations propose that analysis should be limited to
genome regions linked to the clinical problem for which the analysis
is being undertaken.
“We are opposed to the type of opportunistic screening that
throws up large numbers of incidental results. If such results
reveal a treatable or preventable condition, then clearly it is
advantageous to patients to be informed about them. But in the
majority of cases it is very difficult to interpret exactly what
such incidental results mean for patients and their families.
"The evidence currently available often comes from families with
affected persons, but it is lacking on the interpretation of results
in other situations. Furthermore, in genetics healthcare, autonomy
is considered very important: patients should be allowed consent on
what would be screened for and reported to them. We believe that it
is premature today to look for such results other than the clinical
problem in circumstances where there are no prior clinical
indications or family history,” said Professor Cornel.
“A sustained effort to educate clinicians in genetics is needed
in order to be able to cope with advances in analysis. We also
believe that the Society has an important role to play in raising
awareness of genetics among the general public. Only with the
benefit of a general increase in genetic literacy can society become
properly involved in the debate over who has the right to know what
and in which circumstances,” she said.
Professor GertJan van Ommen, Editor in Chief of the European
Journal of Human Genetics, said: “The importance of this issue has
been underlined by the US Government’s Bioethics Advisory Panel’s
plans to report on how incidental findings encountered in genomics
research should be handled. I believe that ESHG has made an
important contribution to the debate, which will be further
discussed at their conference in Paris in June.”
Whole genome sequencing in human health care:
Recommendations of the European Society of Human Genetics. European
Journal of Human Genetics, Volume 21, Issue S1 (June 2013).
Also see: The ‘thousand-dollar genome’: an ethical exploration.
Eur J Hum Genet 21: S6-S26; doi:10.1038/ejhg.2013.73