Lakeland Allergy, Asthma & Immunology, Lakeland, Fla; University of South Florida, Tampa, Fla.
Allergy and Immunology Specialists of Northwest Ohio, Blanchard Valley Hospital, Findlay, Ohio.
J Allergy Clin Immunol Pract. 2022 Jul;10(7):1676-1687. doi: 10.1016/j.jaip.2022.05.017. Epub 2022 May 25.
Genetic testing is a state-of-the-art and readily accessible diagnostic tool and is increasingly indicated in the evaluation process when relevant and possible, although incorporation of this modality into the daily practice of allergists-immunologists in both academic and nonacademic or community settings is still a challenge. Educational sessions and resources support the use of genetic testing in the diagnosis and management of primary immunodeficiency by both the American Academy of Allergy, Asthma & Immunology and the Clinical Immunology Society. Genetic testing for primary immunodeficiency has become much more convenient and affordable over the past decade; allergist-immunologists in private practice are now able to offer patients high-quality and comprehensive genetic testing panels to help diagnose or characterize underlying immune abnormalities among patients with recurrent infections, and even patients with allergic disorder and noninfectious complications. Although genetic testing has not been a commonplace consideration in day-to-day practice for many nonacademic specialists, a shift toward adopting this into our standard toolkit should be taking place. Most of the commercial genetic testing is aiming for a panel of genes ranging anywhere from just a few to several hundred, so the specialist can feel comfortable clearly interpreting the data. As the panels are analyzing data from next-generation sequencing and deletion/duplication assays, this evaluation may need to be repeated when panels expand and include new relevant genes. Ultimately, for undiagnosed cases, whole-exome and whole-genome sequencing can be the next step; however, involvement of genetic counselors may be needed to interpret the data. The value of genetic testing is that it may bring the clinician closer to an accurate diagnosis; therefore, we can keep treating our patients more accurately and effectively, which may result in less frequent follow-ups for unresolved or recurrent problems. In addition, we can then provide patients and their families with important information about the root cause of their disease state, risks to other family members, and offer genetic counseling services. Genetic testing results may also aid in recognizing when a referral to expert colleagues for more advanced and specialized treatments is indicated.
基因检测是一种先进且易于获取的诊断工具，在相关且可行的情况下，它在评估过程中越来越被广泛应用，尽管在学术和非学术或社区环境中的过敏症-免疫学家的日常实践中，将这种方式纳入仍然是一个挑战。美国过敏、哮喘和免疫学学会以及临床免疫学学会都支持在原发性免疫缺陷症的诊断和管理中使用基因检测。在过去的十年中，原发性免疫缺陷症的基因检测变得更加方便和经济实惠；私人执业的过敏症-免疫学家现在能够为患者提供高质量和全面的基因检测面板，以帮助诊断或确定反复感染患者以及甚至过敏症和非传染性并发症患者的潜在免疫异常。尽管对于许多非学术专家来说，基因检测在日常实践中并不是一个常见的考虑因素，但应该向采用这种方法转变。大多数商业基因检测的目标是一组基因，从几个到几百个不等，因此专家可以轻松地清楚地解释数据。随着这些面板从下一代测序和缺失/重复分析中分析数据，当面板扩展并包含新的相关基因时，可能需要重复进行这种评估。最终，对于未确诊的病例，外显子组和全基因组测序可能是下一步；但是，可能需要遗传咨询师来解释数据。基因检测的价值在于它可以使临床医生更接近准确的诊断；因此，我们可以更准确有效地治疗我们的患者，从而减少未解决或反复出现问题的随访次数。此外，我们可以为患者及其家人提供有关其疾病根源、对其他家庭成员的风险以及提供遗传咨询服务的重要信息。基因检测结果还可以帮助识别何时需要向专家同事转介以进行更先进和专业的治疗。
