A model for the return and referral of all clinically significant secondary findings of genomic sequencing Journal Articles uri icon

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abstract

  • Secondary findings (SFs) identified through genomic sequencing (GS) can offer a wide range of health benefits to patients. Resource and capacity constraints pose a challenge to their clinical management; therefore, clinical workflows are needed to optimise the health benefits of SFs. In this paper, we describe a model we created for the return and referral of all clinically significant SFs, beyond medically actionable results, from GS. As part of a randomised controlled trial evaluating the outcomes and costs of disclosing all clinically significant SFs from GS, we consulted genetics and primary care experts to determine a feasible workflow to manage SFs. Consensus was sought to determine appropriate clinical recommendations for each category of SF and which clinician specialist would provide follow-up care. We developed a communication and referral plan for each category of SFs. This involved referrals to specialised clinics, such as an Adult Genetics clinic, for highly penetrant medically actionable findings. Common and non-urgent SFs, such as pharmacogenomics and carrier status results for non-family planning participants, were directed back to the family physician (FP). SF results and recommendations were communicated directly to participants to respect autonomy and to their FPs to support follow-up of SFs. We describe a model for the return and referral of all clinically significant SFs to facilitate the utility of GS and promote the health benefits of SFs. This may serve as a model for others returning GS results transitioning participants from research to clinical settings.

authors

  • Kodida, Rita
  • Reble, Emma
  • Clausen, Marc
  • Shickh, Salma
  • Mighton, Chloe
  • Sam, Jordan
  • Forster, Nicole
  • Panchal, Seema
  • Aronson, Melyssa
  • Semotiuk, Kara
  • Graham, Tracy
  • Silberman, Yael
  • Randall Armel, Susan
  • McCuaig, Jeanna M
  • Cohn, Iris
  • Morel, Chantal F
  • Elser, Christine
  • Eisen, Andrea
  • Carroll, June C
  • Glogowski, Emily
  • Schrader, Kasmintan A
  • Di Gioacchino, Vanessa
  • Lerner-Ellis, Jordan
  • Kim, Raymond H
  • Bombard, Yvonne

publication date

  • August 2023