A model for the return and referral of all clinically significant secondary findings of genomic sequencing
| العنوان: | A model for the return and referral of all clinically significant secondary findings of genomic sequencing |
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| المؤلفون: | Rita Kodida, Emma Reble, Marc Clausen, Salma Shickh, Chloe Mighton, Jordan Sam, Nicole Forster, Seema Panchal, Melyssa Aronson, Kara Semotiuk, Tracy Graham, Yael Silberman, Susan Randall Armel, Jeanna M McCuaig, Iris Cohn, Chantal F Morel, Christine Elser, Andrea Eisen, June C Carroll, Emily Glogowski, Kasmintan A Schrader, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Raymond H Kim, Yvonne Bombard |
| المصدر: | Journal of Medical Genetics. :jmg-2022 |
| بيانات النشر: | BMJ, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Genetics, Genetics (clinical) |
| الوصف: | 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. |
| تدمد: | 1468-6244 0022-2593 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::d99690c63f5174d59c635496148b53e4 https://doi.org/10.1136/jmg-2022-109091 |
| رقم الأكسشن: | edsair.doi...........d99690c63f5174d59c635496148b53e4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14686244 00222593 |
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