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Genetic Testing in Dermatology: A Survey Analyzing Obstacles to Appropriate Care

机译:皮肤科的遗传检测:分析适当护理障碍的调查

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Abstract Background/Objectives The past several decades have witnessed unprecedented advances in genomic technology, bringing genetic testing to the forefront of medical practice and moving us towards the practice of personalized medicine. Genetic testing has become an important aspect in preempting and successfully treating diseases in dermatology, yet difficulty remains in regards to obtaining genetic testing for patients. We conducted a survey for pediatric dermatologists in order to try to gauge and understand where difficulties lie in obtaining genetic testing and to analyze how best these issues can be resolved. Methods An 18‐question survey was emailed to 480 dermatologists who have attended at least one of the last three annual Society for Pediatric Dermatology ( SPD ) meetings. Results Virtually all providers encountered at least one situation in which they required genetic testing for a patient (97.3% [ n = 108]) and 37.4% indicated needing genetic testing more than six times per year. Of the respondents who had attempted to obtain genetic testing, half were unsuccessful in obtaining coverage more than 75% of the time (45% [ n = 32]) and only 7.0% ( n = 5) achieved success 75% to 100% of the time. The most common reasons for obtaining genetic testing included the need to provide an accurate diagnosis, followed by the need to provide prognostic information and appropriate medical management. Conclusion The role of genetic testing in the practice of dermatology is expanding, yet obtaining coverage for genetic testing remains a challenge. We propose several solutions as to how this can be remedied.
机译:摘要背景/目标过去几十年目睹了基因组技术的前所未有的进展,为医疗实践的最前沿带来了遗传测试,并使我们走向个性化医学的实践。遗传学检测已成为抢占和成功治疗皮肤科疾病的一个重要方面,但在获得患者的遗传检测方面仍然仍然仍然存在。我们对儿科皮肤科医生进行了调查,以便尝试衡量并理解困难,以获得遗传测试,并分析如何解决这些问题的最佳问题。方法通过电子邮件向480名皮肤科医生发送了18个问题的调查,他们至少参加了最后三个年度儿科皮肤科(SPD)会议的年度学会中的一个。结果几乎所有提供商都遇到了至少一种情况,其中它们需要对患者的遗传检测(97.3%[n = 108])和37.4%,指示每年需要超过六次的遗传检测。在试图获得遗传检测的受访者中,一半在获得覆盖范围中不成功超过75%的时间(45%[n = 32]),只有7.0%(n = 5)取得成功75%至100%时间。获得遗传测试的最常见原因包括提供准确的诊断,然后需要提供预后信息和适当的医疗管理。结论遗传检测在皮肤病学实践中的作用是扩展,但获得遗传检测的覆盖率仍然是一个挑战。我们提出了几种解决方案,即如何纠正。

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