Return of clinically actionable genomic research findings
Overview
Returning genetic research findings to participants has transitioned from an ethical debate into a well-regulated practice guided by emerging guidelines, policies, and legislation. This evolution highlights the growing recognition of the benefits tied to returning genomic results, including both the respect for participant autonomy and the provision of medically actionable insights that can significantly improve participant care.
At Qatar Genome, our analysis of 14,392 whole genomes has revealed that approximately 3.5% of our research subjects carry clinically actionable genetic variants. These findings are not only critical for the participants themselves but also play a vital role in advancing personalized medicine across Qatar’s healthcare system.
Building on Success
Following the success of a pilot study where high-risk breast cancer variants were returned to XXX QPHI participants, we have implemented a streamlined referral pathway for effective clinical management in collaboration with Hamad Medical Corporation. The pilot enabled participants who consented to receive information about their cancer risk to benefit from proactive care and preventive measures.
Expanding Our Approach
In light of this success, QPHI is now expanding the return of results to encompass a broader panel of genes and conditions. Our structured framework is designed to ensure that the return process is scientifically robust, ethically sound, and fully compliant with legal requirements. This framework is developed in close collaboration with clinical partners, ensuring participants are supported throughout the process, from the delivery of results to appropriate follow-up care and management.
Our ultimate goal is to empower participants with actionable knowledge that can lead to informed healthcare decisions, driving the integration of genomic insights into personalized clinical care.