{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:25:50Z","timestamp":1789154750202,"version":"build-2803163510"},"reference-count":48,"publisher":"BMJ","issue":"1","funder":[{"DOI":"10.13039\/501100000024","name":"CIHR","doi-asserted-by":"crossref","award":["175409"],"award-info":[{"award-number":["175409"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003579","name":"University of Toronto","doi-asserted-by":"publisher","award":["McLaughlin Catalyst Grant"],"award-info":[{"award-number":["McLaughlin Catalyst Grant"]}],"id":[{"id":"10.13039\/501100003579","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,7,19]]},"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>This study systematically reviewed the literature on the impact of digital genetics tools on patient care and system efficiencies. MEDLINE and Embase were searched for articles published between January 2010 and March 2021. Studies evaluating the use of patient-facing digital tools in the context of genetic service delivery were included. Two reviewers screened and extracted patient-reported and system-focused outcomes from each study. Data were synthesised using a descriptive approach. Of 3226 unique studies identified, 87 were included. A total of 70 unique digital tools were identified. As a result of using digital tools, 84% of studies reported a positive outcome in at least one of the following patient outcomes: knowledge, psychosocial well-being, behavioural\/management changes, family communication, decision-making or level of engagement. Digital tools improved workflow and efficiency for providers and reduced the amount of time they needed to spend with patients. However, we identified a misalignment between study purpose and patient-reported outcomes measured and a lack of tools that encompass the entire genetic counselling and testing trajectory. Given increased demand for genetic services and the shift towards virtual care, this review provides evidence that digital tools can be used to efficiently deliver patient-centred care. Future research should prioritise development, evaluation and implementation of digital tools that can support the entire patient trajectory across a range of clinical settings. PROSPERO registration numberCRD42020202862.<\/jats:p>","DOI":"10.1136\/jmg-2022-108653","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T08:00:35Z","timestamp":1663833635000},"page":"1-10","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":61,"title":["Patient-facing digital tools for delivering genetic services: a systematic review"],"prefix":"10.1136","volume":"60","author":[{"given":"Whiwon","family":"Lee","sequence":"first","affiliation":[{"name":"Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"},{"name":"Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Shickh","sequence":"additional","affiliation":[{"name":"Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"},{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Assamad","sequence":"additional","affiliation":[{"name":"Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Luca","sequence":"additional","affiliation":[{"name":"Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Clausen","sequence":"additional","affiliation":[{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherith","family":"Somerville","sequence":"additional","affiliation":[{"name":"Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abby","family":"Tafler","sequence":"additional","affiliation":[{"name":"Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Shaw","sequence":"additional","affiliation":[{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada"},{"name":"Illumina, San Diego, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Hayeems","sequence":"additional","affiliation":[{"name":"Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"},{"name":"Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9516-4539","authenticated-orcid":false,"given":"Yvonne","family":"Bombard","sequence":"additional","affiliation":[{"name":"Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"},{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,9,22]]},"reference":[{"key":"2025100520255190000_60.1.1.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-017-0158-8"},{"key":"2025100520255190000_60.1.1.2","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000172416.35285.9F"},{"key":"2025100520255190000_60.1.1.3","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/s41576-020-0260-x","article-title":"How digital tools can advance quality and equity in genomic medicine","volume":"21","author":"Bombard","year":"2020","journal-title":"Nat Rev Genet"},{"key":"2025100520255190000_60.1.1.4","doi-asserted-by":"publisher","DOI":"10.2196\/22280"},{"key":"2025100520255190000_60.1.1.5","doi-asserted-by":"crossref","first-page":"e124","DOI":"10.1016\/S2589-7500(20)30287-9","article-title":"Digital health during COVID-19: lessons from operationalising new models of care in ophthalmology","volume":"3","author":"Gunasekeran","year":"2021","journal-title":"Lancet Digit Health"},{"key":"2025100520255190000_60.1.1.6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMp2005835"},{"key":"2025100520255190000_60.1.1.7","unstructured":"Wiley Online Library . The future is now: Technology's impact on the practice of genetic counseling. American Journal of Medical Genetics Part C: Seminars in Medical Genetics., 2018."},{"key":"2025100520255190000_60.1.1.8","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1038\/s41436-021-01112-1","article-title":"The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care","volume":"23","author":"Shickh","year":"2021","journal-title":"Genet Med"},{"key":"2025100520255190000_60.1.1.9","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/s41436-020-01063-z","article-title":"GU\u00cdA: a digital platform to facilitate result disclosure in genetic counseling","volume":"23","author":"Suckiel","year":"2021","journal-title":"Genet Med"},{"key":"2025100520255190000_60.1.1.10","article-title":"Assessing an interactive online tool to support parents' genomic testing decisions","author":"Adam","year":"2018","journal-title":"J Genet Couns"},{"key":"2025100520255190000_60.1.1.11","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-016-9971-8"},{"key":"2025100520255190000_60.1.1.12","doi-asserted-by":"crossref","DOI":"10.1186\/s12881-017-0433-4","article-title":"f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies","volume":"18","author":"Tokutomi","year":"2017","journal-title":"BMC Med Genet"},{"key":"2025100520255190000_60.1.1.13","doi-asserted-by":"crossref","DOI":"10.1186\/1897-4287-11-16","article-title":"Hereditary cancer risk assessment: essential tools for a better approach","volume":"11","author":"Gomy","year":"2013","journal-title":"Hered Cancer Clin Pract"},{"key":"2025100520255190000_60.1.1.14","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2018-021876"},{"key":"2025100520255190000_60.1.1.15","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0144-0"},{"key":"2025100520255190000_60.1.1.16","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1097\/MOP.0000000000000677","article-title":"Facial recognition software in clinical dysmorphology","volume":"30","author":"Hurst","year":"2018","journal-title":"Curr Opin Pediatr"},{"key":"2025100520255190000_60.1.1.17","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1038\/s41436-021-01149-2","article-title":"Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic","volume":"23","author":"Brown","year":"2021","journal-title":"Genet Med"},{"key":"2025100520255190000_60.1.1.18","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.40"},{"key":"2025100520255190000_60.1.1.19","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1002\/jgc4.1418","article-title":"Benefits and limitations of telegenetics: a literature review","volume":"30","author":"Gorrie","year":"2021","journal-title":"J Genet Couns"},{"key":"2025100520255190000_60.1.1.20","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1097\/MOP.0000000000000950","article-title":"Telegenetics","volume":"32","author":"Peterlin","year":"2020","journal-title":"Curr Opin Pediatr"},{"key":"2025100520255190000_60.1.1.21","doi-asserted-by":"crossref","DOI":"10.3390\/cancers10110435","article-title":"Next-Generation service delivery: a scoping review of patient outcomes associated with alternative models of genetic counseling and genetic testing for hereditary cancer","volume":"10","author":"McCuaig","year":"2018","journal-title":"Cancers"},{"key":"2025100520255190000_60.1.1.22","first-page":"297","article-title":"Development of breast cancer choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1\/2 mutations","volume":"27","author":"Grimmett","year":"2019","journal-title":"Support Care Cancer"},{"key":"2025100520255190000_60.1.1.23","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/cge.12430","article-title":"Interactive e-counselling for genetics pre-test decisions: where are we now?","volume":"87","author":"Birch","year":"2015","journal-title":"Clin Genet"},{"key":"2025100520255190000_60.1.1.24","doi-asserted-by":"publisher","DOI":"10.2196\/12779"},{"key":"2025100520255190000_60.1.1.25","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.ijmedinf.2015.12.004","article-title":"Barriers to patient participation in a self-management and education website renal PatientView: a questionnaire-based study of inactive users","volume":"87","author":"Hazara","year":"2016","journal-title":"Int J Med Inform"},{"key":"2025100520255190000_60.1.1.26","doi-asserted-by":"crossref","DOI":"10.7326\/0003-4819-151-4-200908180-00135","article-title":"Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement","volume":"1519","author":"Moher","year":"2009","journal-title":"Ann Intern Med"},{"key":"2025100520255190000_60.1.1.27","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ijmedinf.2019.03.018","article-title":"Methods of usability testing in the development of eHealth applications: a scoping review","volume":"126","author":"Maramba","year":"2019","journal-title":"Int J Med Inform"},{"key":"2025100520255190000_60.1.1.28","first-page":"61","article-title":"Patient-Reported outcomes (pros) and patient-reported outcome measures (PROMs)","volume":"6","author":"Weldring","year":"2013","journal-title":"Health Serv Insights"},{"key":"2025100520255190000_60.1.1.29","doi-asserted-by":"crossref","unstructured":"Cella D , Hahn EA , Jensen SE , Butt Z , Nowinski CJ , Rothrock N , Lohr KN . Patient-Reported outcomes in performance measurement 2015.","DOI":"10.3768\/rtipress.2015.bk.0014.1509"},{"key":"2025100520255190000_60.1.1.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"2025100520255190000_60.1.1.31","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181f8baad"},{"key":"2025100520255190000_60.1.1.32","first-page":"S1","article-title":"Whole-Genome sequencing in health care. recommendations of the European Society of Human Genetics","volume":"21 Suppl 1","author":"van El","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"2025100520255190000_60.1.1.33","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.74"},{"key":"2025100520255190000_60.1.1.34","unstructured":"Concert Genetics . The current landscape of genetic testing: market growth, reimbursement trends, challenges and opportunities 2018."},{"key":"2025100520255190000_60.1.1.35","unstructured":"Kmet LM , Cook LS , Lee RC . Standard quality assessment criteria for evaluating primary research papers from a variety of fields 2004."},{"key":"2025100520255190000_60.1.1.36","first-page":"24","article-title":"Improving the usefulness of a tool for appraising the quality of qualitative, quantitative and mixed methods studies, the mixed methods appraisal tool (MMAT)","author":"Hong","year":"2018","journal-title":"J Eval clin Pract"},{"key":"2025100520255190000_60.1.1.37","doi-asserted-by":"crossref","DOI":"10.3390\/children8040259","article-title":"Utility of genetic testing from the perspective of Parents\/Caregivers: a scoping review","volume":"8","author":"Hayeems","year":"2021","journal-title":"Children"},{"key":"2025100520255190000_60.1.1.38","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1016\/j.jaip.2021.02.028","article-title":"Digital health technology in asthma: a comprehensive scoping review","volume":"9","author":"Mosnaim","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2025100520255190000_60.1.1.39","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCOUTCOMES.121.007741","article-title":"Digital health intervention in acute myocardial infarction","volume":"14","author":"Marvel","year":"2021","journal-title":"Circ Cardiovasc Qual Outcomes"},{"key":"2025100520255190000_60.1.1.40","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1089\/tmj.2020.0012","article-title":"Digital health applications in mental health care for immigrants and refugees: a rapid review","volume":"27","author":"Liem","year":"2021","journal-title":"Telemed J E Health"},{"key":"2025100520255190000_60.1.1.41","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1177\/1357633X211046118","article-title":"Virtual care in end of life and palliative care: a rapid evidence check","volume":"27","author":"Dolan","year":"2021","journal-title":"J Telemed Telecare"},{"key":"2025100520255190000_60.1.1.42","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1001\/jamaoncol.2020.6982","article-title":"Implementation and outcomes of virtual care across a tertiary cancer center during COVID-19","volume":"7","author":"Berlin","year":"2021","journal-title":"JAMA Oncol"},{"key":"2025100520255190000_60.1.1.43","article-title":"The virtual care experience of patients diagnosed with COVID-19","volume":"8","author":"Raffan","year":"2021","journal-title":"J Patient Exp"},{"key":"2025100520255190000_60.1.1.44","doi-asserted-by":"crossref","first-page":"e1327","DOI":"10.1200\/OP.21.00092","article-title":"Clinical efficiency and safety outcomes of virtual care for oncology patients during the COVID-19 pandemic","volume":"17","author":"Hsiehchen","year":"2021","journal-title":"JCO Oncol Pract"},{"key":"2025100520255190000_60.1.1.45","doi-asserted-by":"crossref","first-page":"3488","DOI":"10.3390\/curroncol28050301","article-title":"Virtual care in patients with cancer: a systematic review","volume":"28","author":"Singh","year":"2021","journal-title":"Curr Oncol"},{"key":"2025100520255190000_60.1.1.46","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/mgg3.415","article-title":"Genetics in mainstream medicine: finally within GRASP to influence healthcare globally","volume":"6","author":"Aradhya","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"2025100520255190000_60.1.1.47","doi-asserted-by":"crossref","DOI":"10.1177\/20543581211055001","article-title":"Mainstreaming genetic testing for adult patients with autosomal dominant polycystic kidney disease","volume":"8","author":"Elliott","year":"2021","journal-title":"Can J Kidney Health Dis"},{"key":"2025100520255190000_60.1.1.48","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/j.pec.2017.01.015","article-title":"Health literacy in the eHealth era: a systematic review of the literature","volume":"100","author":"Kim","year":"2017","journal-title":"Patient Educ Couns"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg-2022-108653","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:26:07Z","timestamp":1759721167000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg-2022-108653"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,22]]},"references-count":48,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12,23]]},"published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1136\/jmg-2022-108653"],"URL":"https:\/\/doi.org\/10.1136\/jmg-2022-108653","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,22]]}}}