Abstract：
Long QT syndrome (LQTS), a rare cardiac condition that can lead to sudden death, is highly prevalent in First Nations communities of northern British Columbia. In the Gitxsan community of 5500, an estimated 1 in 125 individuals are affected, primarily due to the novel pathogenic variant p.V205M in KCNQ1. Over the past decade, more than 800 Gitxsan individuals received genetic testing and counseling for LQTS through a community-based study. Despite the substantial research characterizing the biological underpinnings of LQTS, there are few studies exploring the lived experiences of families with LQTS, especially those of Indigenous peoples. The goal of this study was to gain a greater understanding of the impact of the genetic confirmation of LQTS in this community, and the impact the condition has on individuals, their families, and the community. A qualitative study was developed in consultation with a local research advisory board and a Talking Circle, a traditional Indigenous format for discussion, was held. Four people who belonged to the same kindred group attended the Talking Circle. This article presents the multigenerational impact that LQTS and genetic diagnosis have through the reflections of one Gitxsan family. LQTS affects identity and family relationships, including those between parents and children, siblings, and even extended family members. Laughter and humor played an important part in coping. The role of family relationships for this Gitxsan family was seen to be critical in managing an LQTS diagnosis. This multigenerational perspective provides key insights into family structure and dynamics which can inform genetic counseling and clinical care. As cultural safety is experienced and therefore defined by the person receiving services, listening to the perspectives and preferences of Indigenous peoples is essential to the delivery of culturally informed care.
摘要：
长QT综合征(LQTS),一种可以导致猝死的罕见心脏病，在不列颠哥伦比亚省北部的原住民社区中非常普遍。在有5500人的Gitxsan社区中，估计125人中有1人受到影响，主要是由于KCNQ1中的新型致病变体p.V205M。在过去的十年里，通过一项基于社区的研究，超过800名Gitxsan个体接受了LQTS基因检测和咨询。尽管对LQTS的生物学基础进行了大量研究，很少有研究探索LQTS家庭的生活经历，尤其是土著居民。这项研究的目的是更好地了解LQTS在该群落中的遗传确认的影响，以及这种情况对个人的影响，他们的家人,和社区。与当地研究顾问委员会和谈话圈子协商后，进行了一项定性研究，传统的土著形式进行讨论，举行。属于同一家族的四个人参加了谈话圈。本文通过一个Gitxsan家族的反思，介绍了LQTS和遗传诊断的多代影响。LQTS影响身份和家庭关系，包括父母和孩子之间的关系，兄弟姐妹,甚至是大家庭成员。笑声和幽默在应对中起着重要的作用。这个Gitxsan家族的家庭关系在管理LQTS诊断中至关重要。这种多代人的观点提供了对家庭结构和动态的关键见解，可以为遗传咨询和临床护理提供信息。由于文化安全是有经验的，因此由接受服务的人定义，听取土著人民的观点和偏好对于提供文化知情护理至关重要。
