Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy.

Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of "patients" who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited. Semi-structured interviews were conducted face-to-face or by phone, and transcribed audio-recordings were coded using framework analysis. Key themes were as follows: (1) helping the next generation, (2) misunderstanding risk, (3) discrepancy between actual/perceived impact. Participants described multiple psychological (shock, worry, uncertainty) and behavioural (career, sport, insurance, family planning) consequences, depending on perceived risk. Most considered only the benefits of genetic testing for children or grandchildren, but there were some cases of significant adverse impact. The interpretation of the HCM genetic test result is variable for silent gene carriers and can lead to psychological and behavioural changes. The impact of a positive gene result may be mitigated by increased clarity of the clinical consequences and efforts to ensure informed decision-making, highlighting even further the important role of cardiac genetic counselling.

Reductions in immunosuppression after haematological or solid organ cancer diagnosis in kidney transplant recipients.

Few data exist on how immunosuppression is altered in kidney transplant recipients (KTR) following a diagnosis of cancer. This study investigated how immunosuppression was altered in KTR after cancer diagnosis and its effect on patient and graft survival. All KTR diagnosed with cancer at our centre from 1990 to 2012 were assessed. Drug regime and serum creatinine levels were recorded 1 year before, at time of, and 1 year after cancer diagnosis. Of 87 KTR who developed cancer (7.3% of transplanted population, n = 1189), 30 developed haematological malignancies and 57 developed solid organ cancers (SOC). In total, 38% of KTR presented with nodal or metastatic disease and 23 of 87 (26%) KTR died within 6 months of cancer diagnosis. Fifty-five KTR had records of pre- and postcancer diagnosis drug regimes. Thirty-six KTR had a (>50%) dose reduction or cessation of 1 or more immunosuppressive agents, and 19 no reduction in immunosuppression. In total, 2 of 36 (6%) of KTR who underwent a dose reduction suffered acute rejection that was reversed with methylprednisolone. Dose reduction/cessation of immunosuppression did not impair graft function, but also did not affect cancer free survival. Further larger prospective studies are needed to determine whether dose reduction alters relapse free cancer survival in KTR.

Development and pilot testing of an online screening decision aid for men with a family history of prostate cancer.

OBJECTIVE: This study aimed to develop and pilot test an online screening decision aid (DA) for men with a family history of prostate cancer. METHODS: Eligible men (with no previous prostate cancer diagnosis) were recruited through relatives attending a urology outpatient clinic. Men evaluated the DA in two stages. First, they appraised a paper-based version using a questionnaire (n=22). Second, the same men were asked to reflect on an interactive web-based version via a semi-structured telephone interview (n=20). RESULTS: Men evaluated both forms of the DA positively. Of the paper-based version, the majority of participants found the DA useful (91%), and that it contained enough information to make a screening decision (73%). All participants reported that the online DA was easy to use and navigate. Most participants reported that a website was their preferred mode of receiving prostate cancer screening information (70%). CONCLUSION: The developed DA may represent the first online decision-making tool designed specifically for men with a family history prostate cancer that presents age and risk specific information to the user. PRACTICE IMPLICATIONS: Comprehensive evaluations of the efficacy and impact of educational interventions such as this are crucial to improve services for individuals making informed screening decisions.

Psychosocial outcomes of three triage methods for the management of borderline abnormal cervical smears: an open randomised trial.

OBJECTIVE: To assess which of three triage strategies for women with borderline abnormal cervical smear results in the best psychosocial outcomes. DESIGN: Pragmatic, non-blinded, multicentre, randomised controlled trial. SETTING: 18 family planning clinics across Australia, covering both urban and rural areas, between January 2004 and October 2006. PARTICIPANTS: Women aged 16-70 years (n=314) who attended routine cervical screening and received a borderline cervical smear. INTERVENTIONS: Patients were randomly assigned to human papillomavirus (HPV) DNA testing (n=104), a repeat smear test at six months (n=106), or the patient's informed choice of either test supported by a decision aid (n=104). Psychosocial outcomes were assessed at multiple time points over 12 months by postal questionnaire. MAIN OUTCOME MEASURES: We assessed health related quality of life (SF36 mental health subscale), cognitive effects (such as perceived risk of cervical cancer, intrusive thoughts), affective outcomes (general anxiety [state-trait anxiety inventory]), specific anxiety about an abnormal smear (cervical screening questionnaire), and behavioural outcomes (sexual health behaviour and visits to the doctor) over 12 months of follow-up. RESULTS: At two weeks, some psychosocial outcomes were worse for women allocated to HPV testing compared with those in the smear testing group (SF36 vitality subscale: t=-1.63, df=131, P=0.10; intrusive thoughts chi(2)=8.14, df=1, P<0.01). Over 12 months, distress about the abnormal smear was lowest in women allocated to HPV testing and highest in the repeat smear testing group (t=-2.89, df=135, P<0.01). Intrusive thoughts were highest in patients allocated to HPV testing (25%, compared with 13% in the informed choice group; difference=12%, 95% CI -1.1% to 25.1%). Women in the HPV DNA group and the informed choice group were more satisfied with their care than women allocated to repeat smear testing. CONCLUSIONS: Although the psychosocial effect was initially worse for women allocated to HPV triage, over the full year of follow-up this intervention was better for women's psychosocial health than repeat smear testing. Offering informed choice could have a small advantage for cognitive outcomes, but in view of the additional effort and logistical complexity that this intervention requires, HPV testing alone can be justified for most women. TRIAL REGISTRATION: actr.org.au Identifier: 12605000111673.

A pragmatic randomised trial of stretching before and after physical activity to prevent injury and soreness.

OBJECTIVE: To determine the effects of stretching before and after physical activity on risks of injury and soreness in a community population. DESIGN: Internet-based pragmatic randomised trial conducted between January 2008 and January 2009. SETTING: International. PARTICIPANTS: A total of 2377 adults who regularly participated in physical activity. INTERVENTIONS: Participants in the stretch group were asked to perform 30 s static stretches of seven lower limb and trunk muscle groups before and after physical activity for 12 weeks. Participants in the control group were asked not to stretch. MAIN OUTCOME MEASUREMENTS: Participants provided weekly on-line reports of outcomes over 12 weeks. Primary outcomes were any injury to the lower limb or back, and bothersome soreness of the legs, buttocks or back. Injury to muscles, ligaments and tendons was a secondary outcome. RESULTS: Stretching did not produce clinically important or statistically significant reductions in all-injury risk (HR=0.97, 95% CI 0.84 to 1.13), but did reduce the risk of experiencing bothersome soreness (mean risk of bothersome soreness in a week was 24.6% in the stretch group and 32.3% in the control group; OR=0.69, 95% CI 0.59 to 0.82). Stretching reduced the risk of injuries to muscles, ligaments and tendons (incidence rate of 0.66 injuries per person-year in the stretch group and 0.88 injuries per person-year in the control group; HR=0.75, 95% CI 0.59 to 0.96). CONCLUSION: Stretching before and after physical activity does not appreciably reduce all-injury risk but probably reduces the risk of some injuries, and does reduce the risk of bothersome soreness. TRIAL REGISTRATION: anzctr.org.au 12608000044325.

A model of prostate-specific antigen screening outcomes for low- to high-risk men: information to support informed choices.

BACKGROUND: Information is needed to aid individual decision making about prostate-specific antigen (PSA) screening. METHODS: We aimed to provide such information for men aged 40, 50, 60, and 70 years at low, moderate, and high risk for prostate cancer. A Markov model compared patients with vs without annual PSA screening using a 20% relative risk (RR) reduction (RR = 0.8) in prostate cancer mortality as a best-case scenario. The model estimated numbers of biopsies, prostate cancers, and deaths from prostate cancer per 1000 men over 10 years and cumulated to age 85 years. RESULTS: Benefits and harms vary substantially with age and familial risk. Using 60-year-old men with low risk as an example, of 1000 men screened annually, we estimate that 115 men will undergo biopsy triggered by an abnormal PSA screen result and that 53 men will be diagnosed as having prostate cancer over 10 years compared with 23 men diagnosed as having prostate cancer among 1000 unscreened men. Among screened men, 3.5 will die of prostate cancer over 10 years compared with 4.4 deaths in unscreened men. For 1000 men screened from 40 to 69 years of age, there will be 27.9 prostate cancer deaths and 639.5 deaths overall by age 85 years compared with 29.9 prostate cancer deaths and 640.4 deaths overall in unscreened men. Higher-risk men have more prostate cancer deaths averted but also more prostate cancers diagnosed and related harms. CONCLUSIONS: Men should be informed of the likely benefits and harms of PSA screening. These estimates can be used to support individual decision making.

Children of prisoners: a growing public health problem.

OBJECTIVES: To estimate the number and proportion of children in New South Wales affected by parental incarceration, and to describe the health impact of punitive incarceration on the children of prisoners. METHODS: In 2001, NSW Corrections Health Service conducted a cross-sectional survey of prison inmates randomly selected from each of the 29 prisons in NSW, representing 11% of male and 30% of female inmates in the State. The survey included questions regarding parental status and number of children. A population model was developed, which incorporated increases in the prison population and recidivism, to estimate the number of children under 16 years of age in NSW ever having experienced parental incarceration. RESULTS: In 2001, there were approximately 14,500 children under the age of 16 years in NSW who experienced parental incarceration during the year. It is estimated that in 2001 there were 60,000 children under 16 years in NSW who had ever experienced parental incarceration in their lifetime, representing 4.3% of all children and 20.1% of Indigenous children. CONCLUSIONS: The number of children who have experienced parental incarceration is significant in NSW and across Australia. Indigenous children are much more likely to experience parental incarceration than non-Indigenous children. IMPLICATIONS: Children of prisoners are at high risk of negative health outcomes and are themselves at an increased risk of offending later in life. The needs of these children must be recognised and policies introduced to reduce the adversities they face. The social, politico-legal and economic conditions that are contributing to the continuing rise in incarceration rates must be recognised, and measures must be taken to reduce this trend.