Genetic sequencing is now available at an affordable price, and this raises the question about how it is provided appropriately; © panthermedia.net/
The use of genome-wide analysis (GWA), that examines the entirety of an individual's DNA for genomic mutations or variants which can cause health problems is a useful technology for diagnosing disease. But it can also pose major ethical problems if used incorrectly.
Many services based on whole genome and on exome (exomes are the short sequences of DNA representing the regions in genes that are translated into protein) 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. "Such sequencing generates huge amounts of information that needs to be processed, analyzed, and stored in a responsible manner", said Professor Martina Cornel, chair of the Professional and Public Policy Committee of the European Society of Human Genetics (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 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.
MEDICA.de; Source: European Society of Human Genetics