Primiero Clare A, Baker Amy M, Wallingford Courtney K, Maas Ellie J, Yanes Tatiane, Fowles Lindsay, Janda Monika, Young Mary-Anne, Nisselle Amy, Terrill Bronwyn, Lodge Jason M, Tiller Jane M, Lacaze Paul, Andersen Hayley, McErlean Gemma, Turbitt Erin, Soyer H Peter, McInerney-Leo Aideen M
The University of Queensland Diamantina Institute, Dermatology Research Centre, The University of Queensland, Brisbane, QLD, Australia.
Discipline of Genetic Counselling, Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.
Front Genet. 2022 Oct 24;13:919134. doi: 10.3389/fgene.2022.919134. eCollection 2022.
Melanoma genetic testing reportedly increases preventative behaviour without causing psychological harm. Genetic testing for familial melanoma risk is now available, yet little is known about dermatologists' perceptions regarding the utility of testing and genetic testing ordering behaviours. To survey Australasian Dermatologists on the perceived utility of genetic testing, current use in practice, as well as their confidence and preferences for the delivery of genomics education. A 37-item survey, based on previously validated instruments, was sent to accredited members of the Australasian College of Dermatologists in March 2021. Quantitative items were analysed statistically, with one open-ended question analysed qualitatively. The response rate was 56% (256/461), with 60% (153/253) of respondents between 11 and 30 years post-graduation. While 44% (112/252) of respondents agreed, or strongly agreed, that genetic testing was relevant to their practice today, relevance to future practice was reported significantly higher at 84% (212/251) ( -9.82, < 0.001). Ninety three percent (235/254) of respondents reported rarely or never ordering genetic testing. Dermatologists who viewed genetic testing as relevant to current practice were more likely to have discussed ( < 0.001) and/or offered testing ( < 0.001). Respondents indicated high confidence in discussing family history of melanoma, but lower confidence in ordering genetic tests and interpreting results. Eighty four percent (207/247) believed that genetic testing could negatively impact life insurance, while only 26% (63/244) were aware of the moratorium on using genetic test results in underwriting in Australia. A minority (22%, 55/254) reported prior continuing education in genetics. Face-to-face courses were the preferred learning modality for upskilling. Australian Dermatologists widely recognise the relevance of genetic testing to future practice, yet few currently order genetic tests. Future educational interventions could focus on how to order appropriate genetic tests and interpret results, as well as potential implications on insurance.
据报道，黑色素瘤基因检测可增加预防行为，且不会造成心理伤害。目前已有针对家族性黑色素瘤风险的基因检测，但对于皮肤科医生对检测效用的看法以及基因检测开单行为知之甚少。为了调查澳大利亚和新西兰的皮肤科医生对基因检测的感知效用、当前在实践中的使用情况，以及他们对提供基因组学教育的信心和偏好。2021年3月，一项基于先前验证工具的37项调查问卷被发送给澳大利亚皮肤科医学院的认证成员。对定量项目进行了统计分析，对一个开放式问题进行了定性分析。回复率为56%（256/461），60%（153/253）的受访者毕业11至30年。虽然44%（112/252）的受访者同意或强烈同意基因检测与他们目前的实践相关，但据报告与未来实践的相关性更高，为84%（212/251）（-9.82，<0.001）。93%（235/254）的受访者报告很少或从未开单进行基因检测。认为基因检测与当前实践相关的皮肤科医生更有可能进行过相关讨论（<0.001）和/或提供检测（<0.001）。受访者表示在讨论黑色素瘤家族史方面信心较高，但在开单进行基因检测和解读结果方面信心较低。84%（207/247）的人认为基因检测可能会对人寿保险产生负面影响，而只有26%（63/244）的人知道澳大利亚暂停在保险核保中使用基因检测结果。少数人（22%，55/254）报告曾接受过遗传学方面的继续教育。面对面课程是提升技能的首选学习方式。澳大利亚皮肤科医生广泛认识到基因检测与未来实践的相关性，但目前很少有人开单进行基因检测。未来的教育干预可以侧重于如何开单进行适当的基因检测和解读结果，以及对保险的潜在影响。
