Wellmed, Corpus Christi, Texas.
Thomas Spann Clinic, Corpus Christi, Texas.
J Am Assoc Nurse Pract. 2021 Jun 7;34(2):381-388. doi: 10.1097/JXX.0000000000000624.
Direct-to-consumer genetic and genomic testing (DTCGT) has paved the way for consumers to gain information about their genetic makeup. Consumers may seek DTCGT to estimate ethnic background, identify genetic relations, or obtain raw DNA information that can be used for other purposes, such as testing for paternity and identifying genetically linked illnesses. Despite robust progress in genetic and genomic testing, most people have a low exposure threshold to DTCGT. Patient consumers may unnecessarily experience anxiety if they do not have a health care provider (HCP) to consult and review their results. Presently, there is a knowledge gap in how accurately HCPs can interpret and communicate genetic test results to patients compared with genetic specialists who may be inaccessible to underserved populations. Genetic and genomic information is rapidly progressing in health care and can identify patients at increased risk for certain diseases and improve patient care and outcomes. Appropriate use of genetic and genomic testing and knowing the limitations and difficulties of current testing available are integral to the success of HCPs in using these results in health promotion and improving quality of life. Health care providers should be aware of DTCGT recommendations and implications for patients, be prepared to counsel patients who present with testing results in hand, seeking advisement, and be competent in determining the need for further diagnostic testing or referral to a specialist genetic counselor.
直接面向消费者的基因和基因组检测 (DTCGT) 为消费者提供了获取自身基因信息的途径。消费者可能会寻求 DTCGT 来估算自己的种族背景、识别基因关系,或获取可用于其他目的的原始 DNA 信息,例如进行亲子鉴定和识别与基因相关的疾病。尽管基因和基因组检测取得了长足的进展,但大多数人对 DTCGT 的接触门槛较低。如果没有医疗保健提供者 (HCP) 咨询和审查他们的结果,患者消费者可能会不必要地感到焦虑。目前,HCP 与可能无法为服务不足人群提供服务的遗传专家相比,在解读和向患者传达基因检测结果方面的准确性方面存在知识差距。基因和基因组信息在医疗保健领域迅速发展,可以识别出某些疾病风险较高的患者,并改善患者的护理和结果。适当使用基因和基因组检测,并了解当前可用检测的局限性和困难,是 HCP 在促进健康和提高生活质量方面成功使用这些结果的关键。医疗保健提供者应该了解 DTCGT 对患者的建议和影响,准备好为那些拿着检测结果寻求建议的患者提供咨询,并能够确定是否需要进一步的诊断检测或转介给专门的遗传咨询师。