"Men's health--a little in the shadow": a formative evaluation of medical curriculum enhancement with men's health teaching and learning.

BACKGROUND: Enhancing a medical school curriculum with new men's health teaching and learning requires an understanding of the local capacity and the facilitators and barriers to implementing new content, and an approach that accommodates the systemic and cultural differences between medical schools. METHODS: A formative evaluation was undertaken to determine the perspectives of key informants (academics, curriculum developers) from four Australian medical schools about the strategies needed to enhance their curriculum with men's health teaching and learning. Through semi-structured questioning with 17 key informants, interviewees also described the contextual barriers and facilitators to incorporating new topic areas into existing curriculum. Interviews were recorded with consent, transcribed verbatim, and analysed by two researchers to identify key themes. RESULTS: Interviewees were enthusiastic about incorporating men's health content through a men's health curriculum framework but highlighted the need for systems to assist in identifying gaps in their current curriculum where the men's health topics could be integrated. The student experience was identified as a key driver for men's health teaching and learning. Furthermore, core men's health clinical outcomes needed to be defined and topic areas vertically integrated across the curricula. This would ensure that students were appropriately equipped with the skills and knowledge for subsequent clinical practice in a range of geographical settings. Interviewees consistently suggested that the best implementation strategy is to have someone 'on the ground' to work directly with medical school staff and champion the men's health discipline. Providing mechanisms for sharing knowledge and resources across medical schools was highlighted to facilitate implementation, particularly for those medical schools with limited men's health teaching resources. CONCLUSIONS: Despite the unanimous support for men's health teaching and learning, the evaluation highlighted that the student experience must be recognised as paramount when integrating new topic areas into an already packed curriculum. A community of practice, where medical schools share relevant resources and knowledge, could help to ensure a commonality of student experience with respect to men's health learning in medical schools across different geographical settings and with different levels of resourcing. Such an approach could also be adapted to other areas of curriculum enhancement.

Androgen deprivation therapy complications.

Androgen deprivation therapy (ADT) is increasingly used to treat advanced prostate cancer and is also utilised as adjuvant or neo-adjuvant treatment for high-risk disease. The resulting suppression of endogenous testosterone production has deleterious effects on quality of life, including hot flushes, reduced mood and cognition and diminished sexual function. Cross-sectional and longitudinal studies show that ADT has adverse bone and cardio-metabolic effects. The rate of bone loss is accelerated, increasing the risk of osteoporosis and subsequent fracture. Fat mass is increased and lean mass reduced, and adverse effects on lipid levels and insulin resistance are observed, the latter increasing the risk of developing type 2 diabetes. ADT also appears to increase the risk of incident cardiovascular events, although whether it increases cardiovascular mortality is not certain from the observational evidence published to date. Until high-quality evidence is available to guide management, it is reasonable to consider men undergoing ADT to be at a higher risk of psychosexual dysfunction, osteoporotic fracture, diabetes and cardiovascular disease, especially when treated for extended periods of time and therefore subjected to profound and prolonged hypoandrogenism. Health professionals caring for men undergoing treatment for prostate cancer should be aware of the potential risks of ADT and ensure appropriate monitoring and clinical management.

Healthy aging in a cross-sectional study of Australian men: what has sex got to do with it?

AIM: To identify lifestyle factors associated with healthy aging in middle-aged and older Australian men. METHODS: A cross-sectional, population-based, computer-assisted telephone interview study explored self-reported health outcomes, and associated determinants for general and reproductive health (the Men in Australia Telephone Survey) in men aged 40 years and older (n = 5990). "Good health" was defined by self-reported health (excellent/very good) combined with absence of self-reported high blood pressure, heart disease, stroke, diabetes and depression symptoms. Categories of sexual activity frequency in the previous four weeks ranged from zero to 12+ times. RESULTS: "Good health" declined with increasing age with 17% of men over 70 years reporting "good health". In multivariable logistic regression models, significant inverse associations were found between modifiable lifestyle factors - both underweight and overweight/obesity, physical inactivity, smoking and high alcohol consumption - and "good health". Low-risk alcohol intake and living with a partner were positively associated with "good health". Sexual activity was also positively associated with "good health" (p < 0.001) with elevated odds ratios (ORs) for each category of frequency of sexual activity (1-4, 5-8, 9-12 or 12+ times in the past 4 weeks) relative to zero frequency (ORs 1.68 to 2.16). CONCLUSION: This study suggests that sexual activity is an important correlate of retaining good health in middle- and older-aged men, independent of other behavioral determinants.

Male reproductive health disorders among Aboriginal and Torres Strait Islander men: a hidden problem?

OBJECTIVE: To better understand help-seeking behaviours and reproductive health disorders among Aboriginal and Torres Strait Islander men. DESIGN, SETTING AND PARTICIPANTS: A cross-sectional mixed-methods study conducted from 1 May 2004 to 30 April 2005 of 293 Aboriginal and Torres Strait Islander men aged 18 years and over from urban, rural and remote communities in the Northern Territory and Queensland. MAIN OUTCOME MEASURES: Subscale of the International Index of Erectile Function, self-reported help-seeking behaviours for erectile dysfunction (ED) and prostate disease, thematic analysis of semi-structured interviews and focus groups. RESULTS: The prevalence of moderate-to-severe ED increased across age groups, from about 10% in younger men (under 35 years) to 28% in men aged 55-74 years. Moderate-to-severe ED was strongly associated with reporting a chronic condition (odds ratio [OR], 3.67) and residing in a remote area (OR, 2.94). Aboriginal and Torres Strait Islander men aged 40-59 years showed similar low levels of help-seeking behaviours compared with non-Indigenous men from a comparable population-based study. About half of the men with ED saw a doctor or received treatment for ED in each population. While prostate cancer rates were low in both studies, testing for prostate problems was less frequent in Aboriginal and Torres Strait Islander men (11.4%) than in non-Indigenous men (34.1%, P < 0.001), despite similar levels of concern about prostate cancer. Barriers to help-seeking included shame, culturally inappropriate services and lack of awareness. CONCLUSION: This study, the first to investigate reproductive health of Aboriginal and Torres Strait Islander men, found low levels of help-seeking behaviours for reproductive health disorders, with implications for missing a predictor of chronic disease and late diagnosis of prostate disease.

A retrospective study of the impact of lifestyle on age at onset of Huntington disease.

In transgenic mouse models of Huntington disease (HD) environmental enrichment significantly delays disease onset. A questionnaire-based survey of 154 adults with diagnosed HD (mean 4.2 years postdiagnosis) and a known IT15 CAG repeat length, explored whether premorbid lifestyle may relate to age-at-onset (AO). Participants were drawn from HD outpatient clinics in Australia and New Zealand. Premorbid physical, intellectual, and passive activity levels were used to generate scores in the categories of leisure, nonleisure (education, occupation and domestic duties) and total lifestyle. AO was associated with increased CAG repeat length as expected (r = -0.72, P < 0.001), but also with a lifestyle that included higher levels of passive activity (r = -0.38, P < 0.001). Multiple linear regression modeling showed lifestyle passivity to be a variable independent of CAG repeat length in predicting AO (R(2) = 0.54, b = -0.22, P = 0.005). Comparison of the mean AO across tertiles of lifestyle passivity scores showed onset 4.6 years (95% CI = 1.3-7.9) later in the least compared with the most passive tertile. CAG repeat length was also shown to predict lifestyle passivity (R(2) = 0.12, b = 1.08, P < 0.0005). Neither intellectual nor physical activity showed significant relationships to AO or CAG repeat length in this cohort. Our study leads to two conclusions: that a passive lifestyle may be a preclinical expression of HD, and that it actually contributes to the earlier onset of symptoms. Overcoming the tendency to be passive may substantially delay onset of HD. (c) 2010 Movement Disorder Society.

Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome.

OBJECTIVES: To map prenatal screening and diagnostic testing pathways in Victorian pregnant women during 2003 to 2004; measure the impact of prenatal diagnostic testing uptake on the effectiveness of prenatal screening for Down syndrome; and assess factors influencing uptake of diagnostic testing following screening. METHODS: State-wide data collections of prenatal screening and diagnostic tests were linked to all Victorian births and pregnancy terminations for birth defects. RESULTS: Overall, 52% of women had a prenatal test (65 692/126 305); screening (44.9%), diagnostic testing (3.9%), or both (3.2%). Uptake of diagnostic testing was 71.4% (2390/3349) after an increased risk screen result, and 2.5% (1381/54 286) after a low risk result. Variation in uptake of diagnostic testing reduced the effectiveness of the screening program by 11.2%: from 87.4% (sensitivity - 125/143) to 76.2% (prenatal diagnoses of Down syndrome - 109/143). In both the increased and low risk groups, uptake was influenced by absolute numerical risk, as well as by the change in numerical risk from a priori risk. CONCLUSIONS: This comprehensive follow-up demonstrates clearly that numerical risk is being used to aid in decision making about confirmatory diagnostic testing. Collectively, these fundamental individual decisions will impact on the overall effectiveness of screening programmes for Down syndrome.

"It's something I need to consider": decisions about carrier screening for fragile X syndrome in a population of non-pregnant women.

Population carrier screening for fragile X syndrome can provide women with information about their risk of having a child with fragile X syndrome and their risk of fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome. Few studies have explored women's decisions when offered carrier screening for fragile X syndrome. Interviews were conducted with 31 women who participated in a pilot study offering carrier screening to non-pregnant women. A qualitative approach was used to gain an in-depth understanding of women's experiences and examine their decision-making processes, including women who were tested and those who decided not to be tested. The decision-making process occurred in two phases. In the first phase, the participant's reproductive stage of life and experience with illness and disability were major factors influencing whether she would consider screening. In the second phase of decision-making, participants' perceptions of the value of knowing their carrier status was the most notable factor for influencing whether a woman actually had the carrier test. Some women appreciated having time for deliberation and those who were tested did not express regret about their decision. Our findings support offering carrier screening for fragile X syndrome to non-pregnant women and suggest that women from the general population will have specific informational and counseling needs when offered carrier testing. This study highlights the unique challenges encountered by women from the general population when making a decision about testing for fragile X syndrome carrier status and illustrates the importance of understanding how women make decisions.

Going down a different road: first support and information needs of families with a baby with Down syndrome.

OBJECTIVE: To explore the experiences of families with a baby with Down syndrome at the time of diagnosis, and their preferences for information and support in the early period after diagnosis. DESIGN, SETTING AND PARTICIPANTS: A qualitative, interview-based study of 18 families living in Victoria with a child with Down syndrome born between 2002 and 2004 who had not been diagnosed with the syndrome before birth. Interviews were transcribed verbatim and interpretive content analysis was undertaken. RESULTS: Parental coping with the unexpected diagnosis of Down syndrome in their infant was influenced by the time interval between birth and disclosure of clinical suspicion of Down syndrome, the level of certainty of the attending physician at the time of disclosure, and the time interval between disclosure of clinical suspicion and confirmation of karyotype. Initial uncertainty and a delay in the diagnosis were detrimental to parental coping, as was premature communication of the news. Perinatal complications increased parental anxiety regarding their child's condition and future. Individual communication style of midwives and physicians was a powerful predictor of parental adaptation. Parental needs for support and information were facilitated through normalising postnatal care, ensuring privacy, and providing early access to peer support and up-to-date written information. Many parents would have appreciated access to a liaison worker. CONCLUSION: The experiences of parents in this study provide practice points for improving postnatal care with minimal changes to formal service systems.

Coverage of the Victorian newborn screening programme in 2003: a retrospective population study.

OBJECTIVE: To assess the coverage of the newborn screening (NBS) program in Victoria, Australia, and identify potential predictors of not being screened. SETTING: Victoria, Australia, 2003. The Victorian NBS program screens for phenylketonuria (PKU), cystic fibrosis, congenital hypothyroidism and more than 20 metabolic conditions, such as medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. METHODS: Victorian birth records (n = 63,018) were linked to Victorian NBS records (n = 62,876) using probabilistic record linkage. Binary logistic regression was used to identify potential predictors of not being screened. RESULTS: Uptake of NBS was 99.4% (62,643/63,018), resulting in 0.6% (375) of livebirths not matched to a NBS test. Neonatal death was the most significant factor associated with not being screened (relative risk (RR) = 407, 95%Cl = 314 to 526). After adjustment, surviving livebirths had an increased likelihood of not being matched to a NBS record if they: were transferred between hospitals (odds ratio (OR) = 2.4, 95% confidence interval (Cl) 1.5 to 3.9); were born at home (OR = 12.1, 95%Cl 6.3 to 23.3); resided in rural Victoria (OR = 2.6, 95%Cl 1.5 to 4.3); stayed in hospital for one day or less (OR = 4.6, 95%Cl 2.8 to 7.6); or whose mothers were primiparous (OR = 1.5, 95%Cl 1.1 to 2.1). CONCLUSION: NBS uptake is extremely high in Victoria with over 99% of livebirths screened. Particular risk factors for not having NBS have now been identified, which could lead to changes around monitoring neonates who are not born in a hospital, or leave/transfer hospital, before the NBS period (48-72 hours). Future studies could determine whether those not screened had opted-out or were not offered NBS.

Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload.

BACKGROUND/AIMS: If community screening for hereditary haemochromatosis is to be considered, compliance with preventative measures and absence of significant psychological morbidity must be demonstrated. METHODS: Workplace screening for the HFE C282Y mutation and then clinical care for C282Y homozygotes was instituted. Data were collected on understanding of test results, perceived health status and anxiety for C282Y homozygotes compared with controls. Uptake of clinical care, compliance and response to treatment and changes in diet were monitored for up to 4 years for C282Y homozygotes. RESULTS: After 11 307 individuals were screened, 40/47 (85%) newly identified C282Y homozygotes completed questionnaires 12 months after diagnosis compared with 79/126 (63%) of controls. Significantly more C282Y homozygotes correctly remembered their test result compared with controls (95 vs 51%, P<0.0001). No significant difference in perceived health status was observed within or between the two groups at 12 months compared with baseline. Anxiety levels decreased significantly for C282Y homozygotes at 12 months compared with before testing (P<0.05). Forty-five of the 47 (95.8%) C282Y homozygotes accessed clinical care for at least 12 months. All 22 participants requiring therapeutic venesection complied with treatment for at least 12 months (range 12-47 months). CONCLUSION: Individuals at a high genetic risk of developing haemochromatosis use clinical services appropriately, maintain their health and are not 'worried well'. Population genetic screening for haemochromatosis can be conducted in the work place in a way that is acceptable and beneficial to participants.

Is Down syndrome a disappearing birth defect?

OBJECTIVE: To assess trends in the prevalence of Down syndrome (DS) from 1986 to 2004 in Victoria, Australia (population approximately 5 million). STUDY DESIGN: The Victorian Birth Defects Register and the Prenatal Diagnosis Database were linked to ascertain all cases of DS. Total and birth prevalence estimates were calculated per year and presented as 3-year moving averages. RESULTS: The total number of cases of DS increased from 113 in 1986 to 188 in 2004. The number of births declined over the first decade of the study, particularly in younger women, but total numbers have fluctuated between 45 and 60 births since 1996. In women under age 35 years, total prevalence was 10/10,000 until 1997 and then increased to 12.5/10,000. In older women, total prevalence increased from 70/10,000 to 90/10,000 in this time frame. Birth prevalence declined at first but remained relatively stable in the later years of the study. The proportion of cases diagnosed prenatally increased from 3% to 60% in younger women. CONCLUSIONS: Our findings demonstrate the continuing need to devote resources to support individuals with DS and their families.

The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing.

BACKGROUND: To fully assess predictive genetic testing programs, it is important to assess outcomes over periods of time longer than the 1-year follow-up reported in the literature. METHODS: We conducted a 3-year study of individuals who received predictive genetic test results for previously identified familial mutations in Australian Familial Cancer Clinics. Questionnaires were sent before attendance at the familial cancer clinic and 2 weeks, 4 months, 1 year, and 3 years after receiving test results. Psychological measures were included each time, and preventive behaviors were assessed at baseline and 1 and 3 years. Psychological measures were adjusted for age, gender, and baseline score. RESULTS: The study included 19 carriers and 54 non-carriers. We previously reported an increase in mean cancer-specific distress in carriers at 2 weeks with a return to baseline levels by 12 months. This level was maintained until 3 years. Non-carriers showed sustained decreases after testing with a significantly lower level at 3 years compared with baseline (P < 0.001). These scores tended to be lower than those for carriers at 3 years (P = 0.09). Mean depression and anxiety scores did not differ between carriers and non-carriers and, at 3 years, were similar to baseline. All carriers and 7% of non-carriers had had a colonoscopy by 3 years, and 69% of 13 female carriers had undergone gynecological screening in the previous 2 years. Prophylactic surgery was rare. CONCLUSION: This report of long-term data indicates appropriate screening and improved psychological measures for non-carriers with no evidence of undue psychological distress in carriers of hereditary nonpolyposis colorectal cancer mutations.

Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia.

PURPOSE: This retrospective study describes 15 years of experience in predictive testing for Huntington disease at a single center in Victoria, Australia. METHOD: Data collected on 756 participants included age, gender, family history, prior risk and the age at which this risk became known, exposure to Huntington disease, number of children, and proximity to the testing center. RESULTS: Some 57.8% of participants were female, and 88.8% had a 50% risk of developing Huntington disease. The mean age at entry was 40.4 years and was gender-independent. Of all completed tests (n = 648), 37.5% gave high-risk results, and 3.2% were in the zone of reduced penetrance. The 14.3% who withdrew from testing tended to be younger and childless, lacked exposure to severe Huntington disease, and more often at 25% or less risk. Some 32.4% of candidates presented for testing within 1 year of becoming aware of their risk, and most of these individuals had little or no exposure to severe Huntington disease. Those whose exposure was considerable waited on average for more than 13 years. Among the most inexperienced candidates were a group of "adoptees" (raised away from their biological family). Maternal transmission was the source of risk for 19 of 20 adoptees. CONCLUSION: This study illustrates the significance of exposure to Huntington disease and its impact on the timing of testing.

Using record linkage and manual follow-up to evaluate the Victorian maternal serum screening quadruple test for Down's syndrome, trisomy 18 and neural tube defects.

OBJECTIVES: The Genetic Health Services Victoria maternal serum screening (MSS) quadruple test has been available to pregnant women in Victoria since 1996. The objectives of this study were to follow up the pregnancies screened by MSS between July 1998 and June 2000 and to determine the performance characteristics of the test for Down's syndrome, trisomy 18 and neural tube defects (NTDs). METHODS: MSS results were matched to pregnancy outcome information from the Perinatal Data Collection Unit and Birth Defects Register, using automated probabilistic record linkage. For unmatched pregnancies, manual follow-up was carried out by contacting referring doctors and hospitals, resulting in a very high follow-up rate of 99.2% (18,989/19,143). RESULTS: The sensitivity of MSS for Down's syndrome was 85% (23/27-95%CI 72-99%) with a falsepositive rate (FPR) of 6.8% (risk threshold >or= 1 in 250). While using a fixed 5% FPR, the sensitivity for Down's syndrome was slightly lower (78%). The sensitivity for trisomy 18 was 44% (4/9 - 95% CI 12-77%) with a FPR of 0.5% (risk threshold of >or= 1 in 200). 11 of the 15 (73 - 95%CI 51-97%) cases of open NTDs were detected from screening, with a 1% FPR (risk threshold alpha-fetoprotein [AFP] >or=2.5 MoM). All cases of anencephaly had increased AFP levels. CONCLUSION: Probabilistic record linkage and manual follow-up is an efficient method for ascertainment of pregnancy outcomes, with a higher follow-up rate than that reported in similar studies. MSS should remain an available option for all pregnant women in Victoria, with test characteristics comparable with other recent reports of the quadruple test.

Genetics and public health--evolution, or revolution?

During the 19th and early 20th century, public health and genetics shared common ground through similar approaches to health promotion in the population. By the mid-20th century there was a division between public health and genetics, with eugenicists estranged and clinical genetics focused on single gene disorders, usually only relevant to small numbers of people. Now through a common interest in the aetiology of complex diseases such as heart disease and cancer, there is a need for people working in public health and genetics to collaborate. This is not a comfortable convergence for many, particularly those in public health. Nine main concerns are reviewed: fear of eugenics; genetic reductionism; predictive power of genes; non-modifiable risk factors; rights of individuals compared with populations; resource allocation; commercial imperative; discrimination; and understanding and education. This paper aims to contribute to the thinking and discussion about an evolutionary, multidisciplinary approach to understanding, preventing, and treating complex diseases.