Identifying and evaluating the disparities in familial cancer genetic testing and genetic counselling based on geographical location in Australia.

As the study of genetics gains increasing relevance across all areas of medicine, emerging evidence reveals inconsistencies in the utilisation of genetic risk services for familial cancer. Existing literature emphasises an inequality of familial cancer genetic care for individuals who are geographically isolated from familial cancer genetic services. This is an issue that needs to be addressed to improve assessment of risk for any hereditary malignant disease and timely preventative strategies for the individuals ‘at risk,’ including those whose access to these services is limited. The research hypothesis is that an unequal number of GPs initiate familial cancer referrals and genetic testing based on geographic location in Australia. The purpose of this research was to review and determine the extent and strength of the published literature regarding familial cancer referral patterns in Australia. Most importantly it also specifically examined the diverse approach of General Practitioners (GPs) in referral rates for familial cancer genetic testing and counselling, and the influences and barriers to these referrals. Furthermore, this study investigated contributing factors that lead to enhanced effectiveness of familial cancer genetic risk care in relation to the geographical location throughout Australia. This research contributes to existing knowledge by highlighting the importance of genetic testing for predisposition to familial cancer as a routine part of familial cancer screening and as an essential step towards the improvement of familial cancer health care. In answering important research questions this study has offered several insights into issues particularly relating to access to familial cancer genetic risk assessment for all Australians, regardless of their place of residence. This project informs a rationale behind the gaps in referral patterns for familial cancer genetic risk evaluation being influenced by the geographic location. This study serves as a good starting point to create and improve educational pathways for GPs’ capabilities and confidence with referrals for familial cancer genetic testing and genetic counselling. The emerging evidence encourages renewed commitment to strengthen familial cancer health management, especially in remote areas of Australia.

随着遗传学研究在医学各领域的重要性与日俱增，新近研究证据表明，家族性癌症遗传风险服务的利用存在不一致现象。现有文献强调，对于与家族性癌症遗传服务地理距离较远的人群，其获得的家族性癌症遗传诊疗服务存在不平等问题。为优化各类遗传性恶性疾病的风险评估，并为“高风险”人群（包括获取此类服务受限者）提供及时的预防策略，这一问题亟待解决。本研究的假设为：在澳大利亚，全科医生（General Practitioners, GPs）依据地理位置发起的家族性癌症转诊与基因检测的数量存在不均等情况。本研究旨在系统回顾并明确澳大利亚已发表的家族性癌症转诊模式相关文献的覆盖范围与学术影响力，尤为关键的是，本研究专门探讨了全科医生在家族性癌症基因检测与遗传咨询转诊率方面的差异化实践，以及影响此类转诊的相关因素与阻碍因素。此外，本研究还调查了澳大利亚全国范围内，影响家族性癌症遗传风险诊疗服务效能提升的地理区位相关因素。本研究通过强调家族性癌症易感基因检测作为家族性癌症筛查常规环节的重要性，以及其作为改善家族性癌症医疗保健的关键步骤的价值，丰富了现有相关研究成果。通过解答核心研究问题，本研究为解决所有澳大利亚居民（无论其居住地区）获取家族性癌症遗传风险评估服务的相关困境提供了若干建设性见解。本项目阐明了受地理位置影响的家族性癌症遗传风险评估转诊模式存在缺口的内在逻辑。本研究可为构建和完善全科医生开展家族性癌症基因检测转诊与遗传咨询的能力与信心的教育路径提供良好的起点。新近涌现的研究证据呼吁我们重新投入更多精力，以强化家族性癌症健康管理，尤其是在澳大利亚偏远地区。