Dani S Temares, Lusha W Liang, Amanda L Bergner, Muredach P Reilly, Isha Kalia
{"title":"遗传性心血管疾病患者在接受遗传学治疗方面的经验。","authors":"Dani S Temares, Lusha W Liang, Amanda L Bergner, Muredach P Reilly, Isha Kalia","doi":"10.1007/s12687-023-00693-5","DOIUrl":null,"url":null,"abstract":"<p><p>Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience within cardiogenetics. This study qualitatively explored the experiences of 12 genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic and compared the experiences of local vs. non-local patients. Both local and non-local participants discussed similar benefits and drawbacks to the use of technology in telegenetics and overall found the use of telegenetics and at-home genetic testing to be convenient. Both groups also noted having to make changes in their daily lives and future planning as a consequence of the positive genetic testing results. However, access to follow-up care differed between local and non-local participants, with more local participants having scheduled and attended appointments with the appropriate medical providers compared to non-local participants. Supplying non-local patients access to remote cardiogenetic testing may therefore require careful consideration in how to ensure proper follow-up care for genotype positive patients and may necessitate the involvement of national professional or patient-centered organizations to help streamline the referral process.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"119-127"},"PeriodicalIF":1.5000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031528/pdf/","citationCount":"0","resultStr":"{\"title\":\"Patient experiences in receiving telegenetics care for inherited cardiovascular diseases.\",\"authors\":\"Dani S Temares, Lusha W Liang, Amanda L Bergner, Muredach P Reilly, Isha Kalia\",\"doi\":\"10.1007/s12687-023-00693-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience within cardiogenetics. This study qualitatively explored the experiences of 12 genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic and compared the experiences of local vs. non-local patients. Both local and non-local participants discussed similar benefits and drawbacks to the use of technology in telegenetics and overall found the use of telegenetics and at-home genetic testing to be convenient. Both groups also noted having to make changes in their daily lives and future planning as a consequence of the positive genetic testing results. However, access to follow-up care differed between local and non-local participants, with more local participants having scheduled and attended appointments with the appropriate medical providers compared to non-local participants. Supplying non-local patients access to remote cardiogenetic testing may therefore require careful consideration in how to ensure proper follow-up care for genotype positive patients and may necessitate the involvement of national professional or patient-centered organizations to help streamline the referral process.</p>\",\"PeriodicalId\":46965,\"journal\":{\"name\":\"Journal of Community Genetics\",\"volume\":\" \",\"pages\":\"119-127\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031528/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Community Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12687-023-00693-5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/12/14 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Community Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12687-023-00693-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/12/14 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Patient experiences in receiving telegenetics care for inherited cardiovascular diseases.
Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience within cardiogenetics. This study qualitatively explored the experiences of 12 genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic and compared the experiences of local vs. non-local patients. Both local and non-local participants discussed similar benefits and drawbacks to the use of technology in telegenetics and overall found the use of telegenetics and at-home genetic testing to be convenient. Both groups also noted having to make changes in their daily lives and future planning as a consequence of the positive genetic testing results. However, access to follow-up care differed between local and non-local participants, with more local participants having scheduled and attended appointments with the appropriate medical providers compared to non-local participants. Supplying non-local patients access to remote cardiogenetic testing may therefore require careful consideration in how to ensure proper follow-up care for genotype positive patients and may necessitate the involvement of national professional or patient-centered organizations to help streamline the referral process.
期刊介绍:
The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals.
Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues.
The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries.
The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.