A qualitative evaluation of the psychosocial impact of family history screening in Australian primary care.

Whilst the family history is perceived as a routine part of the medical family history it is not used in a systematic way to tailor disease prevention in primary care. Family history questionnaires (FHQs) may have an important role in primary care as a screening tool to support tailored disease prevention. The potential harms and benefits of family history screening in primary care require investigation before routine adoption. This study aimed: first to explore the experience and impact of family history collection via a novel family history questionnaire and subsequent familial risk assessment, and secondly, to assess the acceptability and feasibility of using the questionnaire in Australian primary care. Twenty-eight semi-structured telephone interviews were conducted with patients already enrolled in a family history screening study through their family physician. Qualitative constant comparative analysis was undertaken of transcript data. Common themes included the way in which the family unit, individual stage of life and a number of external triggers interact and contribute to how an individual comes to terms with familial disease risk. Unique findings emerged relating to the Australian perspective of participants. Living in Australia created a barrier to effective communication amongst family members about family health, and family history collection. In addition to the vast geographical distance both within Australia, and between Australia and other countries, there was an additional sense of isolation described within an historical context. The family history screening questionnaire was considered user-friendly and a worthwhile approach to supporting disease prevention in primary care, although some participants did not retain an accurate understanding of their familial cancer risk. In conclusion, a person's response to family history screening is reliant on a complex interplay of family, personal and external factors, which in turn are driven by their stage of life. The impact of immigration and geographic isolation from family members may further complicate a person's response to undertaking family history screening.

Development and validation of a family history screening questionnaire in Australian primary care.

PURPOSE: We aimed to validate a family history screening questionnaire in an Australian primary care population designed to identify people at increased risk for breast, ovarian, colorectal, and prostate cancer; melanoma; ischemic heart disease; and type 2 diabetes. METHODS: We prospectively validated the questionnaire in 6 general practices in Perth, Western Australia among 526 patients aged 20 to 50 years who responded to a single invitation from their general practice. They completed the 15-item questionnaire before a reference standard 3-generation pedigree was obtained by a genetic counselor blinded to the questionnaire responses. We calculated diagnostic performance statistics for the questionnaire using the pedigree as the reference standard. RESULTS: A combination of 9 questions had the following diagnostic performance, expressed as value (95% CI), to identify increased risk of any of the 7 conditions: area under the receiver operating characteristic curve 84.6% (81.2%-88.1%), 95% sensitivity (92%-98%), and 54% specificity (48%-60%). The combination of questions to detect increased risk had sensitivity of 92% (84%-99%) and 96% (93%-99%) for the 5 and 6 conditions applicable only to men and women, respectively. The specificity was 63% (28%-52%) for men and 49% (42%-56%) for women. The positive predictive values were 67% (56%-78%) and 68% (63%-73%), and the false-positive rates were 9% (0.5%-17%) and 9% (3%-15%) for men and women, respectively. CONCLUSIONS: This simple family history screening questionnaire shows good performance for identifying primary care patients at increased disease risk because of their family history. It could be used in primary care as part of a systematic approach to tailored disease prevention.

Implementing pharmacogenomic testing in Australian general practice: an exploratory qualitative study.

Aim: To explore general practitioners' (GPs) views on implementing pharmacogenomic testing in Australian general practice.Methods: Semi-structured interviews were conducted with nine GPs in Australia, recruited from primary care networks. Interviews were analyzed using thematic analysis. Themes were mapped onto the Consolidated Framework for Implementation Research domains.Results: Barriers to implementation included lack of knowledge, education, standardized pharmacogenomic reports and national clinical guidelines and financial inaccessibility. Facilitators included positive exposure to pharmacogenomics, peer influences, interdisciplinary collaboration and proven clinical utility. Current uptake was minimal; however, GPs shared positive perceptions of clinical use.Conclusion: Recommendations for successful implementation include building and disseminating clinical evidence, developing national guidelines and standardized reports, incorporation into formal education and increasing financial accessibility.

What is this article about? This article describes an original research study that examines the implementation of pharmacogenomic testing in Australian general practice. Pharmacogenomic testing applies personalized genomic information to medication prescribing, as genetic differences can affect how a person metabolizes certain medications. While there is excitement about the possibilities of using pharmacogenomics, the general uptake is slow. This study looked to understand the barriers and facilitators to implementation from the perspectives of general practitioners in Australia.What were the results? Through exploratory interviews with general practitioners, this study identified that barriers to implementation include a lack of knowledge, education, standardized reports and national clinical guidelines and financial inaccessibility. Facilitators include positive exposure to pharmacogenomic testing, peer influences, interdisciplinary collaboration and proven clinical utility. Current uptake was minimal; however, GPs shared positive perceptions of the potential of testing.What do the results of the study mean? Based on the results of this study, the following recommendations were generated for successful implementation: building and disseminating clinical evidence, developing national guidelines, incorporation into formal education, establishing accessible experts and improving financial accessibility.

Chronic disease prevention in general practice--Applying the family history.

BACKGROUND: The family history has a potentially important role in general practice for risk prediction and tailored disease prevention for several common chronic diseases. OBJECTIVE: This article discusses the potential role of the family history in general practice including current risk assessment guidelines and approaches to supporting family history taking. DISCUSSION: Family history reflects shared genetic and environmental risks and can be used to identify individuals at increased risk of common chronic disease who may benefit from tailored preventive management. General practitioners need to develop skills in taking a full family history, creating a pedigree and using this to determine disease risk. Future developments in this area include family history screening tools, computerised risk assessment and, in the longer term, identification of common genetic mutations that are reflected in a person's family history.

Regional variations in prenatal screening across Australia: stepping towards a national policy framework.

BACKGROUND: A relatively few centres across Australia provide screening tests for maternal serum markers or ultrasound measurement of fetal nuchal translucency to assess risk of fetal anomalies such as Down syndrome. While providers engage in external accreditation and quality assurance programs, state and federal governments have been slow to formulate relevant policies and standards. AIM: In this paper we review the current practices across Australian states and territories and propose recommendations for developing a national policy framework. METHODS: Data on the number and types of screening tests provided as well as state policies, where they are available, were obtained from government reports and supplemented by a mail survey to selected stakeholders in each state or territory. RESULTS: At a jurisdictional level, our results highlight the need to integrate the collection and monitoring of antenatal population-screening programs to assess clinical effectiveness and program performance (detection and screen-positive rates, uptake of diagnostic tests as a result of screening). Women's expectations and satisfaction with the information they are provided should be evaluated and used to adjust education resources. At a local level, collaboration between providers of the separate tests, both public and private, would enable the ascertainment of outcomes of integrated screening programs. To complete the cycle, these data should inform decisions to improve antenatal screening programs at a national level. CONCLUSIONS: A primary goal at a national level would be to develop a consensus on key performance indicators for programs that clarify best practice guidelines and establish optimal performance and accreditation standards.