"Out of the blue": A qualitative study exploring the experiences of women and next of kin receiving unexpected results from BRA-STRAP research gene panel testing.

In the genomic era, the availability of gene panel and whole genome/exome sequencing is rapidly increasing. Opportunities for providing former patients with new genetic information are also increasing over time and recontacting former patients with new information is likely to become more common. Breast cancer Refined Analysis of Sequence Tests-Risk And Penetrance (BRA-STRAP) is an Australian study of individuals who had previously undertaken BRCA1 and BRCA2 genetic testing, with no pathogenic variants detected. Using a waiver of consent, stored DNA samples were retested using a breast/ovarian cancer gene panel and clinically significant results returned to the patient (or next of kin, if deceased). This qualitative study aimed to explore patient experiences, opinions, and expectations of recontacting in the Australian hereditary cancer setting. Participants were familial cancer clinic patients (or next of kin) who were notified of a new pathogenic variant identified via BRA-STRAP. In-depth, semi-structured interviews were conducted approximately 6 weeks post-result. Interviews were transcribed verbatim and analyzed using an inductive thematic approach. Thirty participants (all female; average age = 57; range 36-84) were interviewed. Twenty-five were probands, and five were next of kin. Most women reported initial shock upon being recontacted with unexpected news, after having obtained a sense of closure related to their initial genetic testing experiences and cancer diagnosis. For most, this initial distress was short-lived, followed by a process of readjustment, meaning-making and adaptation that was facilitated by perceived clinical and personal utility of the information. Women were overall satisfied with the waiver of consent approach and recontacting process. Results are in line with previous studies suggesting that patients have positive attitudes about recontacting. Women in this study valued new genetic information gained from retesting and were satisfied with the BRA-STRAP recontact model. Practice implications to facilitate readjustment and promote psychosocial adaptation were identified.

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed to make inference about breast cancer risk for women unselected for family history, an important consideration of population screening. We tested 1464 women diagnosed with breast cancer and 862 age-matched controls participating in the Australian Breast Cancer Family Study (ABCFS), and 6549 healthy, older Australian women enroled in the ASPirin in Reducing Events in the Elderly (ASPREE) study for rare germline variants using a 24-gene-panel. Odds ratios (ORs) were estimated using unconditional logistic regression adjusted for age and other potential confounders. We identified pathogenic variants in 11.1% of the ABCFS cases, 3.7% of the ABCFS controls and 2.2% of the ASPREE (control) participants. The estimated breast cancer OR [95% confidence interval] was 5.3 [2.1-16.2] for BRCA1, 4.0 [1.9-9.1] for BRCA2, 3.4 [1.4-8.4] for ATM and 4.3 [1.0-17.0] for PALB2. Our findings provide a population-based perspective to gene-panel testing for breast cancer predisposition and opportunities to improve predictors for identifying women who carry pathogenic variants in breast cancer predisposition genes.

Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.

The Genetic Information System (GIS) is an Australian database of family genetic information. This health information technology system has been used by all 31 publicly operated clinical genetics services across New South Wales (NSW) and the Australian Capital Territory (ACT) for over a decade. As these services are separated geographically, the linkage engendered by the GIS facilitates the services to operate as a virtual state-wide service. This study aimed to explore the views of genetic counselors, patients, and carers on the use and storage of family genetic information in the GIS. Data were collected using audio-recorded semi-structured telephone interviews with genetic counselors experienced with using the GIS and focus groups with past patients/carers of the services. Using thematic analysis, four themes were identified from genetic counselor participant interviews (n = 12): (a) Shared information is valuable; (b) inconsistent data entry provides a challenge; (c) perceived need for the GIS to be current and integrated with other health systems; and (d) future challenges and strategies for the GIS. Three themes were identified following three focus groups with consumer participants (n = 14): (a) access to family genetic information provides a 'clearer picture'; (b) support, but caution, concerning use of information for relatives' health care; and (c) stewardship of family information. Genetic counselors and consumers identified similar advantages and privacy concerns regarding the sharing of family genetic information and all participants wanted patients/carers to be better informed about the GIS early in the genetic counseling process. Consumers were reassured by genetics health professionals' stewardship of their information, but surprised the GIS was not available nationally or for private geneticists or certain non-genetic specialists. These findings may inform further development of the GIS and other clinical genetic databases and lead to increased patient/carer knowledge through education and resource development.

Patient and general practitioner attitudes to healthy lifestyle behaviours and medication following coronary heart disease: an exploratory study.

Patients with coronary heart disease often engage in unhealthy lifestyle behaviours. We explored patients' and general practitioners' (GPs') perceptions about the effectiveness of healthy behaviours and medications for the prevention of further cardiovascular disease. This exploratory study used semi-structured interviews with eight Sydney GPs and 13 of their patients with coronary heart disease. Patients perceived medications to be more effective than healthy behaviours in improving specific aspects of cardiovascular health, such as angina symptoms, cholesterol and blood pressure, whilst GPs perceived that medications were more effective in patients they considered at highest cardiovascular risk, patients with uncontrolled risk factors, or where adherence to healthy behaviours was poor. Among patients we found a negative perception of the effort required to adhere to healthy behaviours and possible underestimation of their future cardiovascular risk. Patients valued support from peers and family. This study opens up avenues for investigation in further research, including whether patient adherence to healthy behaviours may be enhanced by the exploration oftheir perceptions about behaviour effectiveness, barriers and cardiovascular risk and by GP facilitation of practical supports.

The pathway to dementia diagnosis.

OBJECTIVE: To describe the steps taken by health professionals to diagnose dementia and the timeframes for these steps, as reported by carers. DESIGN, SETTING AND PARTICIPANTS: A cross-sectional, anonymous survey was mailed or distributed by Alzheimer's Australia New South Wales, six Sydney residential aged care facilities and 13 Sydney general practitioners to 415 carers or family members of patients with dementia between May and August 2007. MAIN OUTCOME MEASURES: First symptoms noticed and actions taken; time to first health professional consultation and diagnosis; reported actions of first health professional; satisfaction with first consultation; and use of dementia and chronic illness resources. RESULTS: 209 surveys were returned. Family members noticed the first symptoms of dementia at a mean of 1.9 years before the first health professional consultation about dementia, and 3.1 years before a firm diagnosis. Resource use first occurred 2.8 years after the first symptoms. Most carers (72%) were satisfied with the first consultation, which was usually with a GP (84%). Two-thirds of carers (64%) reported that the first health professional had performed a memory test. CONCLUSIONS: Delays in presentation, diagnosis and resource use may have clinical and social implications for people with dementia and their families, in addition to the challenges of the process of obtaining a firm diagnosis.

Sphygmomanometer calibration--why, how and how often?

BACKGROUND: Hypertension is the most commonly managed problem in general practice. Systematic errors in blood pressure measurements caused by inadequate sphygmomanometer calibration are a common cause of over- and underidentification of hypertension. OBJECTIVE: This article reviews sphygmomanometer error and makes recommendations regarding in service maintenance and calibration of sphygmomanometers. DISCUSSION: Most sphygmomanometer surveys report high rates of inadequate calibration and other faults, particularly in aneroid sphygmomanometers. Automatic electronic sphygmomanometers produce systematic errors in some patients. All sphygmomanometers should be checked and calibrated by an accredited laboratory at least annually. Aneroid sphygmomanometers should be calibrated every 6 months. Only properly validated automatic sphygmomanometers should be used. Practices should perform regular in house checks of sphygmomanometers. Good sphygmomanometer maintenance and traceable sphygmomanometer calibration will contribute to reducing the burden of cardiovascular disease and the number of patients overtreated for hypertension in Australia.

Patients with dementia and their carers.

Clinical guidelines for general practitioners' care of patients with dementia still living in the community (not in hostels or nursing homes) were used in an educational program for general practitioners. At the same time information was obtained about the current health status, needs, and management of such patients and their carers. Eight general practitioners audited a total of 25 patients. Carer questionnaires were returned from 30 carers recruited by the general practitioners and 77 recruited by Alzheimer's Australia NSW. Many of the audit results are as expected, but some raise important issues. The diagnosis was not fully established for 20% of patients and the MMSE score not known by the general practitioner for 56%. Home safety had not been assessed for 44%. Legal matters such as driving or guardianship had not been considered for more than half. Most carers felt supported by their general practitioner in their role as carer, but services that would have been useful were not available to 23%, and most felt that being a carer had affected their own health. The small number of participants means that the audit results come from too few general practitioners to be reliably representative, but they do provide an indication of likely general results, and indicate priority areas for improved care.

What's in the doctor's bag?

BACKGROUND: A doctor's bag is invaluable when you need to take part of the practice to the patient, or in the case of an emergency. OBJECTIVE: This article aims to help new general practice registrars and experienced general practitioners consider what they may need in their doctor's bag. DISCUSSION: The doctor's bag needs to be personalised to the requirements of each GP and their patient population. Decisions need to be made about the type of bag, stationery, equipment and medications carried. Some possible additions for a rural doctor's bag are included, as well as some general tips.