遗传性心血管疾病患者在接受遗传学治疗方面的经验。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-04-01 Epub Date: 2023-12-14 DOI:10.1007/s12687-023-00693-5
Dani S Temares, Lusha W Liang, Amanda L Bergner, Muredach P Reilly, Isha Kalia
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引用次数: 0

摘要

在 COVID-19 大流行期间,Telegenetics 在为患者提供基因服务方面发挥了重要作用。特别是在我们机构,它使我们能够将遗传咨询和检测服务扩展到先前服务范围之外的非本地患者家属。然而,由于电报遗传学仍在继续使用,甚至不再需要社会距离,因此需要进一步了解这种模式对心脏遗传学患者体验的影响。在 COVID-19 大流行的前 22 个月中,12 名基因型阳性患者通过电报遗传学接受了遗传咨询和检测,本研究对他们的经历进行了定性探讨,并比较了本地与非本地患者的经历。本地和非本地参与者都讨论了在电报遗传学中使用技术的类似好处和缺点,总体而言,他们都认为使用电报遗传学和在家进行基因检测很方便。两组参与者还指出,由于基因检测结果呈阳性,他们不得不改变日常生活和未来规划。然而,本地和非本地参与者在获得后续治疗方面存在差异,与非本地参与者相比,更多的本地参与者与适当的医疗服务提供者预约并参加了后续治疗。因此,为非本地患者提供远程心脏遗传学检测可能需要慎重考虑如何确保基因型阳性患者得到适当的后续治疗,并可能需要国家专业组织或以患者为中心的组织参与进来,帮助简化转诊流程。
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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.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
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.
期刊最新文献
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