10 March 2015
New research suggests that Canadians have mixed views about incidental findings (IFs) that could arise in clinical whole genome sequencing
IFs are unexpected results of potential medical significance that are discovered during clinical analysis or investigation for an unrelated condition, or during research. Opinion is divided about how they should be handled in the context of clinical genome sequencing; a recent report from the PHG Foundation echoes European policy in proposing the use of targeted forms of genomic analysis to minimise IFs, whilst US policy supports active searching for a set of specific high-risk genetic variants.
Writing in the Canadian Medical Association Journal, researchers report on findings from a questionnaire taken by over 1,200 Canadians designed to probe how useful they would find various types of information from genome sequencing: disease penetrance, disease treatability, disease severity, carrier status and cost.
In general, participants thought that information about their risk of high-penetrance disorders was valuable, but much less so for lower-penetrance disorders, where it is much less possible to predict whether and to what extent people with a given genetic mutation will experience clinical symptoms.
66% said they would choose to receive incidental findings relating to of high-penetrance (with a lifetime-risk of 80% or above), serious and medically treatable conditions, but a majority thought that IFs for less serious conditions and those without effective treatments would be less useful.
The researchers concluded that the benefits of returning IFs could be maximised by letting patients choose whether to receive them or not, although they noted that patients choices and reactions in a real-life clinical setting would not necessarily be the same as in a hypothetical scenario.
Health economist (and lead researcher) Dr Dean Regier of the Canadian Centre for Applied Research in Cancer Control at the BC Cancer Agency said that giving patients the option of receiving incidental findings was beneficial: "It will give voice to the public and to patients in terms of they should be offered a choice about what types of information they should receive. This is in contrast to the guidelines and a lot of what's done now in terms of making decisions for the patient".