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.

随着遗传学在医学各领域的日益凸显其重要性，新近的研究成果揭示了遗传风险服务在家族性癌症中的应用存在不一致性。现有文献强调，远离家族性癌症遗传服务机构的个体在家族性癌症遗传护理方面面临着不平等。这一问题亟待解决，以提升对任何遗传性恶性肿瘤风险的评估以及针对‘处于风险’个体的及时预防策略，包括那些获取这些服务受限的个体。研究假设，在澳大利亚，不同地区的一般实践医生（GP）在家族性癌症转诊和遗传检测方面的启动数量存在不均衡。本研究旨在回顾并确定有关澳大利亚家族性癌症转诊模式的已发表文献的范围和强度。尤为重要的是，本研究还特别考察了全科医生（GP）在家族性癌症遗传检测和咨询转诊率方面的多样化方法，以及这些转诊的影响因素和障碍。此外，本研究还调查了导致澳大利亚各地家族性癌症遗传风险护理效果提升的相关影响因素。本研究通过强调遗传检测在家族性癌症筛查中的常规作用，以及作为改善家族性癌症医疗保健的必要步骤，为现有知识做出了贡献。在回答重要的研究问题中，本研究为与澳大利亚所有居民的居住地无关的家族性癌症遗传风险评估问题提供了若干洞见。本项目揭示了家族性癌症遗传风险评价转诊模式差异背后的合理性，为创建和改进全科医生在家族性癌症遗传检测和遗传咨询转诊方面的能力与信心提供了良好的起点。新近的证据鼓励我们重新致力于加强家族性癌症健康管理，尤其是在澳大利亚的偏远地区。