Qualitative codebook.

Several professional organizations recommend conducting genetic testing as part of the autism diagnosis process, as it can provide additional information and benefits for autistic people and their families. However, there is disagreement among autism communities about whether genetic testing reflects autistic people’s best interests. In practice, rates of clinical genetic testing for autism are much lower than diagnoses, creating a large gap between clinical guidelines and real clinical encounters. To investigate one potential source of this gap, we interviewed 14 healthcare providers about the autism diagnostic process and their actions related to autism genetic testing. We recruited a sample of primarily Ph.D. level-psychologists and analyzed our qualitative data using a five-step framework analysis method. Participants generally had positive or mixed views of genetic testing in autism. They described their current experiences of implementation of genetic testing, including that they did not often find it changed their clinical practice. Only some providers recommended it to everyone receiving an autism diagnosis. They also listed factors which discourage families from getting testing, including high costs, families feeling overwhelmed, other support needs taking priority, and ethical implications. Notably, providers highlighted a trend of referring patients to research genetic testing rather than clinical testing, which may provide a cheaper and easier alternative but is not likely to return results to participants. Finally, participants felt they needed more training in genetics and listed specific topics of uncertainty. Our research highlights a need to further educate clinicians in the uses and limitations of genetic testing for autism and suggests content areas of focus for genetics educators.

多家专业机构建议将基因检测（genetic testing）纳入自闭症（autism）诊断流程，因其可为自闭症患者及其家属提供额外信息与相关获益。然而，自闭症群体内部对于基因检测是否契合自闭症患者的最佳利益存在分歧。实际临床中，自闭症相关临床基因检测的实施率远低于确诊率，导致临床指南与真实临床诊疗场景之间存在显著落差。为探究该落差的潜在成因之一，我们就自闭症诊断流程以及与自闭症基因检测相关的临床操作，访谈了14名医疗服务提供者。本次研究的受访对象以博士级心理学家为主，我们采用五步框架分析法（five-step framework analysis method）对质性数据（qualitative data）进行了分析。受访对象对自闭症基因检测大多持积极或混合态度。他们分享了当前基因检测的实施体验，称并未观察到该检测常对自身临床实践产生改变。仅有部分医疗服务提供者会向所有确诊自闭症的患者推荐该检测。他们还列举了阻碍家属接受检测的多项因素，包括检测成本高昂、家属负担过重、其他支持需求优先级更高，以及伦理层面的考量。值得注意的是，受访对象指出了一种趋势：他们更倾向于将患者转诊至研究型基因检测而非临床基因检测，前者虽可为患者提供更廉价便捷的替代方案，但通常不会向参与者反馈检测结果。最后，受访对象表示他们需要更多遗传学相关培训，并列举了自身存在认知盲区的具体议题。本研究凸显了针对临床医生开展自闭症基因检测适用范围与局限性相关教育的必要性，并为遗传学教育者指明了重点教学内容方向。