A model for the return and referral of all clinically significant secondary findings of genomic sequencing Review
| Authors: | Kodida, R.; Reble, E.; Clausen, M.; Shickh, S.; Mighton, C.; Sam, J.; Forster, N.; Panchal, S.; Aronson, M.; Semotiuk, K.; Graham, T.; Silberman, Y.; Randall Armel, S.; McCuaig, J. M.; Cohn, I.; Morel, C. F.; Elser, C.; Eisen, A.; Carroll, J. C.; Glogowski, E.; Schrader, K. A.; Di Gioacchino, V.; Lerner-Ellis, J.; Kim, R. H.; Bombard, Y.; on behalf of the Incidental Genomics Study Team |
| Contributors: | Hamilton, J. G.; Offit, K.; Robson, M. E. |
| Review Title: | A model for the return and referral of all clinically significant secondary findings of genomic sequencing |
| 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. © Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. |
| Keywords: | adult; controlled study; sequence analysis; genetics; review; outcome assessment; follow up; consensus; randomized controlled trial; randomized controlled trials as topic; referral and consultation; genomics; general practitioner; genetic screening; primary medical care; cost; patient referral; genetic testing; genetic counseling; costs and cost analysis; randomized controlled trial (topic); pharmacogenomics; workflow; humans; human; male; female |
| Journal Title: | Journal of Medical Genetics |
| Volume: | 60 |
| Issue: | 8 |
| ISSN: | 0022-2593 |
| Publisher: | BMJ Publishing Group Ltd. |
| Date Published: | 2023-08-01 |
| Start Page: | 733 |
| End Page: | 739 |
| Language: | English |
| DOI: | 10.1136/jmg-2022-109091 |
| PUBMED: | 37217257 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Review -- MSK Cancer Center Support Grant (P30 CA0098748) acknowledged in PubMed -- Source: Scopus |
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