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Exploring Attitudes Towards a New Genetic Test: Potential Applications and Ethical Considerations of Parent-of-Origin-Aware Genomic Analysis

Ethical Legal Social Issues (ELSI) Public Health and Policy
  • Primary Categories:
    • ElSI Ethics Legal and Social Issues
  • Secondary Categories:
    • ElSI Ethics Legal and Social Issues
Introduction:
Parent-of-Origin-Aware Genomic Analysis (POAga) is a novel genetic testing method that can predict the parental origins of specific genetic variants using only the proband’s sample. This ability to predict inheritance within a single test represents a major shift from standard-of-care testing, requiring genetic testing in multiple family members to determine inheritance patterns. POAga presents an opportunity to provide clinical benefit across many genetic diseases, including hereditary cancers. Prior to implementing this promising technology as part of standard-of-care, understanding and appropriately addressing the ethical implications of determining parent of origin is critical.

Methods:
This knowledge translation (KT) project aims to educate healthcare providers about POAga, and characterize their attitudes the adoption of this novel genetic test in the clinical setting. Specialists were recruited across a variety of medical fields, including clinical genetics (geneticists and genetic counsellors), cancer care (medical oncologists and surgeons), biochemical disease, cardiac genetics, and neurogenetics. Recruitment occurred in British Columbia, Canada, from June until November 2024, using a purposive sampling approach. To preface feedback, participants were invited to view brief video overviewing POAga alongside potential benefits and implications. Data were collected using semi-structured virtual focus groups and questionnaires.

Results:
This project is ongoing and will present an overview of data collected so far. Broadly, providers perceive that POAga offers many clinical benefits spanning increased testing efficiency, expedited initiation of secondary prevention of affected individuals, and reduced genetic counsellor burden. While optimistic about the potential benefits of POAga, providers highlight a critical need to address issues related to duty to warn predicted carriers as well as the need for adequate pre-test patient counselling.

Conclusion:
POAga promises multiple public health and health system benefits. However, transitioning POAga into clinical care will require knowledge translation efforts, patient and provider education, and ongoing ethical and practical discussions among healthcare providers and patients. The results of this project will provide a foundation for co-designed educational resources targeted to ordering providers.

Agenda

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