Abstract：
The utilization of genetics in medical care has enhanced the utility of precision medicine and hence increased the need for clinical genetic services. These services have reduced the costs and expanded the availability of genetic testing, but their use is limited in certain populations. This study explores the access to clinical genetic services for Michigan patients referred to a genetics clinic on the western side of the state. Factors included the travel distance (miles), wait time for appointment (days from the referral date to the date of first appointment), population demographics, and cultural characteristics. A retrospective record review of all aged patients (n = 568) referred to a genetics clinic in 2018 demonstrated that all patients were insured (100%), of which majority were white-non-Hispanic (90.7%), more than half were < 10 years of age at referral (53.3%), and most of them kept their first appointment (93.5%). Our analysis showed that the wait time was associated with referral non-compliance, p < 0.01. Adjusting for all variables, for each additional day in wait time, patients had 1% increased risk of not seeking clinical genetic services (OR = 1.01, 90% CI [1.01, 1.02]). Policies to encourage genetic service utilization and improve equitable access to precision health are needed. An opportunity exists for strategies that broaden and add diverse populations to those receiving genetic services.
摘要：
在医疗保健中利用遗传学增强了精准医学的效用，因此增加了对临床遗传服务的需求。这些服务降低了成本，扩大了基因检测的可用性，但它们的使用在某些人群中是有限的。这项研究探讨了密歇根州患者在该州西部的遗传学诊所获得临床遗传服务的途径。因素包括旅行距离（英里），等待预约的时间（从推荐日期到首次预约日期的天数），人口统计学，和文化特征。对2018年转诊到遗传学诊所的所有老年患者（n=568）的回顾性记录审查表明，所有患者都有保险（100％），其中大多数是非西班牙裔白人（90.7%），超过一半的人在转诊时年龄<10岁(53.3%)，他们中的大多数人保留了第一次任命(93.5%)。我们的分析表明，等待时间与转诊不合规有关，p<0.01。调整所有变量，等待的每一天，患者不寻求临床遗传服务的风险增加1%(OR=1.01,90%CI[1.01,1.02]).需要鼓励利用遗传服务和改善公平获得精确健康的政策。存在扩大和增加接受遗传服务的人群的多样化的策略的机会。
