| Autor: |
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 |
| Zdroj: |
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 8 p733-739, 7p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
