ELSIcon2022 Paper: Is it just for a screening program to give people all the information they want?

ELSIcon2022 • Paper • June 2, 2022

Lisa Dive, Ainsley Newson

What normative role should people’s preferences should play in determining access to genomic information, particularly in relation to just and equitable design of reproductive genetic carrier screening (RGCS) programs? Many prefer to receive information about both the genetic variants they carry and those that their (potential future) offspring may carry too, if offered the opportunity. However, information about genetic variants that are of uncertain significance, or are not associated with severe genetic conditions usually lacks clinical (and perhaps personal) utility. We will argue that – especially in large-scale RGCS– there are both pragmatic and ethical reasons to restrict information provision to that which is relevant to the purpose of testing.
In RGCS, the aim is to inform reproductive decision making. Drawing on a pluralistic public health ethics perspective, we will argue that RGCS program design must respond to justice and equity considerations. These factors support a carefully curated gene list in the context of a program that ensures equitable access to screening, as well as follow-up interventions if required. We argue: (1) that a couples-based approach to reporting results is preferable as this best supports the aims of RGCS; and (2) that we should not accept patient preferences at face value, especially if they were discerned via quantitative methods only. Finally, we argue that if RGCS is to be offered at scale a cautious approach with a judiciously curated gene list is warranted. This approach carefully balances the potential benefits of RGCS with sustainability within healthcare systems more generally.