Informed consent for expanded carrier screening: Past, present, and future

Abstract

History, law, bioethics, and geocultural influences all have impacted the modern application of informed consent. It is a complex, multilayered process to communicate information and obtain voluntary patient permission before a health care intervention. Lack of provider education about genetic disorders, complexities of advanced genomic technologies, limited time during patient encounters, and low health literacy within a population all represent challenges to effective communication. There is no consensus on how informed consent in reproductive genetics is optimally obtained. Expanded carrier screening (ECS) is purposed to simultaneously test for a large list of diseases in a pan‐ethnic manner. The increased use of ECS is driven by advances in genomic technologies, decreased cost, an improved understanding of single gene disorders, and in support of reproductive autonomy. Academic organizations recommend pretest counseling when patients consider ECS, yet best practice is not established. Ongoing research is needed to determine how optimally implement informed consent given the increased complexity of ECS.

Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022

“…Other key highlights of the meeting included carrier screening, now being widely adopted in the USA but less so in other parts of the world. We heard about the challenges associated with ensuring informed patient consent 9 and considerations around what conditions we should be screening for 10 …”

“…8 Other key highlights of the meeting included carrier screening, now being widely adopted in the USA but less so in other parts of the world. We heard about the challenges associated with ensuring informed patient consent 9 and considerations around what conditions we should be screening for. 10 Here, in the editorial, we have highlighted just a few of the topics presented at ISPD Montreal 2022, but please read on to learn more about the diverse topics that were presented.…”