Exploring the emotional and behavioural reactions to receiving personalized melanoma genomic risk information: a qualitative study.

BACKGROUND: There is a need for greater understanding of the spectrum of emotional and behavioural reactions that individuals in the general population may experience in response to genomic testing for melanoma risk. OBJECTIVES: To explore how individuals in the general population respond to receiving personalized genomic risk of melanoma. METHODS: Semistructured interviews were undertaken with 30 participants (aged 24-69 years, 50% female, 12 low risk, eight average risk, 10 high risk) recruited from a pilot trial in which they received personalized melanoma genomic risk information. We explored participants' emotional and behavioural responses to receiving their melanoma genomic risk information. The qualitative data were analysed thematically. RESULTS: Many participants reported a positive response to receiving their melanoma genomic risk, including feelings of happiness, reassurance and gaining new knowledge to help manage their melanoma risk. Some participants reported short-term negative emotional reactions that dissipated over time. Most individuals, particularly those who received average or high-risk results, reported making positive behaviour changes to reduce their melanoma risk. Emotional and behavioural responses were linked to participants' expectations for their risk result, their pre-existing perception of their own melanoma risk, their existing melanoma preventive behaviours and their genomic risk category. CONCLUSIONS: Personalized melanoma genomic risk information alongside education and lifestyle counselling is favourably received by people without a personal history and unselected for a family history of melanoma. Participants described increased knowledge and awareness around managing skin cancer risk and improved sun protection and skin examination behaviours. Any initial feelings of distress usually dissipated over time.

Disparities exist between the dietary intake of Indigenous Australian women during pregnancy and the Australian dietary guidelines: the Gomeroi gaaynggal study.

BACKGROUND: Little is known about the adequacy of nutrient intakes and the overall diet quality of Indigenous Australian pregnant women. The aim of this cross-sectional study was to assess nutrient sufficiency and diet quality, as measured using the Australian Recommended Food Score (ARFS), in pregnant women from the Gomeroi gaaynggal cohort (n = 58). METHODS: Maternal dietary intake during pregnancy was assessed using the Australian Eating Survey Food Frequency Questionnaire, which was self-administered in the third trimester. Diet quality was determined using the ARFS. Food group servings and nutrient intakes were compared to the Australian Guide to Health Eating (AGHE) and Australian Nutrient Reference Values (NRVs). The current analysis examined the adequacy of usual intakes from food sources only, excluding supplements. RESULTS: None of the women met all AGHE daily food group serving recommendations. The highest alignment rates were for dairy (33%), meat/alternatives (31%) and vegetables (29.3%). Almost 93% of participants exceeded the recommended intake of energy-dense, nutrient-poor foods and percentage energy from saturated fat was high (15%). Of the five key nutrients for optimal reproductive health (folate, iron, calcium, zinc and fibre), the nutrients with the highest percentage of pregnant women achieving the NRVs were zinc (77.6%) and folate (68.9%), whereas iron was the lowest. Only one person achieved all NRVs (folate, iron, calcium, zinc and fibre) important in pregnancy. The median ARFS was 28 points (maximum of 73). CONCLUSIONS: Although the small cohort limits the generalisability of the findings of the present study, the data obtained indicate that the diets of these Indigenous pregnant women are inadequate. Therefore, strategies aiming to optimise nutrient intakes of Indigenous pregnant women are needed urgently.

Does personalized melanoma genomic risk information trigger conversations about skin cancer prevention and skin examination with family, friends and health professionals?

BACKGROUND: Receiving information about genomic risk of melanoma might trigger conversations about skin cancer prevention and skin examinations. OBJECTIVES: To explore conversations prompted by receiving personalized genomic risk of melanoma with family, friends and health professionals. METHODS: We used a mixed-methods approach. Participants without a personal history and unselected for a family history of melanoma (n = 103, aged 21-69 years, 53% women) completed questionnaires 3 months after receiving a personalized melanoma genomic risk assessment. Semistructured interviews were undertaken with 30 participants in high, average and low genomic risk categories, and data were analysed thematically. RESULTS: From the questionnaires, 74% of participants communicated their genomic risk information with family, and 49% with friends. Communication with a health professional differed by risk level: 41%, 16% and 12% for high, average and low risk, respectively (P = 0·01). Qualitative analysis showed that perceived 'shared risk' and perceived interest of family and friends were motivations for discussing risk or prevention behaviours. The information prompted conversations with family and health professionals about sun protection and skin checks, and general conversations about melanoma risk with friends. Reasons for not discussing with family included existing personal or family health concerns, or existing high levels of sun protection behaviour among family members. CONCLUSIONS: Personalized melanoma genomic risk information can prompt risk-appropriate discussions about skin cancer prevention and skin examinations with family and health professionals. Sharing this information with others might increase its impact on melanoma prevention and skin examination behaviours, and this process could be used to encourage healthy behaviour change within families.

User involvement throughout development of technology to support diabetes foot care: a case illustration of the devices for dignity PPIE model.

The successful development and implementation of any healthcare technology requires input from multiple stakeholders including clinical leads, trust information technology directorates as well as project management and procurement. In this process however, a key stakeholder that is often overlooked is the patient.This paper illustrates the crucial importance of patient involvement to avoid poor design and poor uptake of technology and subsequently poor health outcomes.To highlight this, we share a case example evidencing involvement of people with lived experience of foot ulcers resulting from Diabetic foot neuropathy throughout identification of unmet technology needs, design requirements for the device and iterative device development and evaluation.

Childhood adversity and clinical and psychosocial outcomes in psychosis.

AIMS: Associations between childhood abuse and various psychotic illnesses in adulthood are commonly reported. We aim to examine associations between several reported childhood adverse events (sexual abuse, physical abuse, emotional abuse, neglect and interpersonal loss) among adults with diagnosed psychotic disorders and clinical and psychosocial outcomes. METHODS: Within a large epidemiological study, the 2010 Australian National Survey of Psychosis (Survey of High Impact Psychosis, SHIP), we used logistic regression to model childhood adverse events (any and specific types) on 18 clinical and psychosocial outcomes. RESULTS: Eighty percent of SHIP participants (1466/1825) reported experiencing adverse events in childhood (sexual abuse, other types of abuse and interpersonal loss). Participants reporting any form of childhood adversity had higher odds for 12/18 outcomes we examined. Significant associations were observed with all psychosocial outcomes (social dysfunction, victimisation, offending and homelessness within the previous 12 months, and definite psychosocial stressor within 12 months of illness onset), with the strongest association for homelessness (odds ratio (OR) = 2.82). Common across all adverse event types was an association with lifetime depression, anxiety and a definite psychosocial stressor within 12 months of illness onset. When adverse event types were non-hierarchically coded, sexual abuse was associated with 11/18 outcomes, other types of abuse 13/18 and, interpersonal loss occurring in the absence of other forms of abuse was associated with fewer of the clinical and psychosocial outcomes, 4/18. When adverse events types were coded hierarchically (to isolate the effect of interpersonal loss in the absence of abuse), interpersonal loss was associated with lower odds of self-reproach (OR = 0.70), negative syndrome (OR = 0.75) and victimisation (OR = 0.82). CONCLUSIONS: Adverse childhood experiences among people with psychosis are common, as are subsequent psychosocial stressors. Mental health professionals should routinely enquire about all types of adversities in this group and provide effective service responses. Childhood abuse, including sexual abuse, may contribute to subsequent adversity, poor psychosocial functioning and complex needs among people with psychosis. Longitudinal research to better understand these relationships is needed, as are studies which evaluate the effectiveness of preventative interventions in high-risk groups.

Pregnancy stress, healthy pregnancy and birth outcomes - the need for early preventative approaches in pregnant Australian Indigenous women: a prospective longitudinal cohort study.

Adverse pregnancy outcomes including prematurity and low birth weight (LBW) have been associated with life-long chronic disease risk for the infant. Stress during pregnancy increases the risk of adverse pregnancy outcomes. Many studies have reported the incidence of adverse pregnancy outcomes in Indigenous populations and a smaller number of studies have measured rates of stress and depression in these populations. This study sought to examine the potential association between stress during pregnancy and the rate of adverse pregnancy outcomes in Australian Indigenous women residing in rural and remote communities in New South Wales. This study found a higher rate of post-traumatic stress disorder, depression and anxiety symptoms during pregnancy than the general population. There was also a higher incidence of prematurity and LBW deliveries. Unfortunately, missing post-traumatic stress disorder and depressive symptomatology data impeded the examination of associations of interest. This was largely due to the highly sensitive nature of the issues under investigation, and the need to ensure adequate levels of trust between Indigenous women and research staff before disclosure and recording of sensitive research data. We were unable to demonstrate a significant association between the level of stress and the incidence of adverse pregnancy outcomes at this stage. We recommend this longitudinal study continue until complete data sets are available. Future research in this area should ensure prioritization of building trust in participants and overestimating sample size to ensure no undue pressure is placed upon an already stressed participant.

Consumer and clinician perspectives on personalising breast cancer prevention information.

BACKGROUND: Personalised prevention of breast cancer has focused on women at very high risk, yet most breast cancers occur in women at average, or moderately increased risk (≤moderate risk). OBJECTIVES: To determine; 1) interest of women at ≤ moderate risk (consumers) in personalised information about breast cancer risk; 2) familial cancer clinicians' (FCCs) perspective on managing women at ≤ moderate risk, and; 3) both consumers' and FCCs reactions to iPrevent, a personalised breast cancer risk assessment and risk management decision support tool. METHODS: Seven focus groups on breast cancer risk were conducted with 49 participants; 27 consumers and 22 FCCs. Data were analysed thematically. RESULTS: Consumers reported some misconceptions, low trust in primary care practitioners for breast cancer prevention advice and frustration that they often lacked tailored advice about breast cancer risk. They expressed interest in receiving personalised risk information using iPrevent. FCCs reported an inadequate workforce to advise women at ≤ moderate risk and reacted positively to the potential of iPrevent to assist. CONCLUSIONS: While highlighting a potential role for iPrevent, several outstanding issues remain. For personalised prevention of breast cancer to extend beyond women at high risk, we must harness women's interest in receiving tailored information about breast cancer prevention and identify a workforce willing to advise women.

Influence of maternal adiposity, preterm birth and birth weight centiles on early childhood obesity in an Indigenous Australian pregnancy-through-to-early-childhood cohort study.

Childhood obesity rates are higher among Indigenous compared with non-Indigenous Australian children. It has been hypothesized that early-life influences beginning with the intrauterine environment predict the development of obesity in the offspring. The aim of this paper was to assess, in 227 mother-child dyads from the Gomeroi gaaynggal cohort, associations between prematurity, Gestation Related-Optimal Weight (GROW) centiles, maternal adiposity (percentage body fat, visceral fat area), maternal non-fasting plasma glucose levels (measured at mean gestational age of 23.1 weeks) and offspring BMI and adiposity (abdominal circumference, subscapular skinfold thickness) in early childhood (mean age 23.4 months). Maternal non-fasting plasma glucose concentrations were positively associated with infant birth weight (P=0.005) and GROW customized birth weight centiles (P=0.008). There was a significant association between maternal percentage body fat (P=0.02) and visceral fat area (P=0.00) with infant body weight in early childhood. Body mass index (BMI) in early childhood was significantly higher in offspring born preterm compared with those born at term (P=0.03). GROW customized birth weight centiles was significantly associated with body weight (P=0.01), BMI (P=0.007) and abdominal circumference (P=0.039) at early childhood. Our findings suggest that being born preterm, large for gestational age or exposed to an obesogenic intrauterine environment and higher maternal non-fasting plasma glucose concentrations are associated with increased obesity risk in early childhood. Future strategies should aim to reduce the prevalence of overweight/obesity in women of child-bearing age and emphasize the importance of optimal glycemia during pregnancy, particularly in Indigenous women.

Correlates of increased risk of eating disorders in Irish school children.

Currently there are no large-scale data on the prevalence of disordered eating behaviours in Irish children and adolescents. We examined the 2002 Health Behaviour in School Aged Children (HBSC) study to estimate those Irish children who are potentially at risk of developing an eating disorder. Body Mass Index (BMI) data, based on self-reported height and weight were available for 2,469 pupils (29% of all participants). This analysis showed that 32.2% of adolescents were underweight (BMI < 18.5 kg m(-2)) and 10.7% of this group 'thought they were too fat'. These latter (n-86) were identified as the 'risk' group and compared with group 2 (n = 717) who reported they were underweight and had indeed a low BMI and group 3, (n = 856) those with a normal range BMI (18.5-25Kg/m2). Those at risk were significantly more likely to choose a large silhouette, be unhappy, poorly satisfied with life and perceive themselves as not good looking, to have diet concerns, be bullied at least twice per month and feel they were average/below average in their academic work (all p < 0.001). These data indicate psycho-social associations with an important potentially pathological population sub-group of at risk children.

The effect of antioxidants on sperm motility activation in the Booroolong frog.

Motile sperm can generate high levels of reactive oxygen species (ROS) post activation, and ROS can quickly accumulate to levels that impair motility and fertilising ability. The addition of antioxidants to sperm suspensions has been suggested as a means of reducing oxidative stress and enhancing sperm motility during and after sperm storage. Despite this, very few studies have attempted to experimentally test the effects of antioxidants on sperm motility activation in animals that use an external mode of fertilisation, espcially in amphibians. The present study aimed to investigate the effect of vitamin C and vitamin E on sperm motility activation in the Booroolong frog. Spermatozoa were activated in media containing either vitamin C (0, 0.05, 0.10, 0.15, 0.20, 0.25µgµL-1) or vitamin E (0, 0.25, 0.50, 0.75, 1.0, 1.25 1.50, 1.75µgµL-1). Sperm performance parameters (percent motility and velocity) were assessed using CASA at 0, 1, 2, 3, 4, 5 and 6h post-activation. Contrary to expectations, vitamin C supplementation was detrimental to sperm motility across all tested concentrations, while vitamin E had no effect. Further investigation on the endogenous antioxidant system of anuran sperm is required to ascertain whether alternative antioxidants may be more suitable at reducing ROS produced during sperm activation and improving sperm motility activation in vitro.

Intended and unintended consequences of abortion law reform: perspectives of abortion experts in Victoria, Australia.

INTRODUCTION: In Victoria, Australia, abortion was decriminalised in October 2008, bringing the law in line with clinical practice and community attitudes. We describe how experts in abortion service provision perceived the intent and subsequent impact of the 2008 Victorian abortion law reform. METHODS: Experts in abortion provision in Victoria were recruited for a qualitative semi-structured interview about the 2008 law reform and its perceived impact, until saturation was reached. Nineteen experts from a range of health care settings and geographic locations were interviewed in 2014/2015. Thematic analysis was conducted to summarise participants' views. RESULTS: Abortion law reform, while a positive event, was perceived to have changed little about the provision of abortion. The views of participants can be categorised into: (1) goals that law reform was intended to address and that have been achieved; (2) intent or hopes of law reform that have not been achieved; (3) unintended consequences; (4) coincidences; and (5) unfinished business. All agreed that law reform had repositioned abortion as a health rather than legal issue, had shifted the power in decision making from doctors to women, and had increased clarity and safety for doctors. However, all described outstanding concerns; limited public provision of surgical abortion; reduced access to abortion after 20 weeks; ongoing stigma; lack of a state-wide strategy for equitable abortion provision; and an unsustainable workforce. CONCLUSION: Law reform, while positive, has failed to address a number of significant issues in abortion service provision, and may have even resulted in a 'lull' in action.

Dietary intakes and anthropometric measures of Indigenous Australian women and their infants in the Gomeroi gaaynggal cohort.

Indigenous Australians continue to experience disparities in chronic diseases, many of which have nutrition-related trajectories. Optimal nutrition throughout the lifespan is protective for a number of adverse health outcomes, however little is known about current dietary intakes and related anthropometric outcomes of Indigenous women and their infants. Research is required to identify nutrition issues to target for health promotion activities. The Gomeroi gaaynggal programme is an ongoing, prospective cohort of pregnant Indigenous Australian women and their children. A cross-sectional examination of postnatal dietary intakes and anthropometric outcomes of mothers and children are reported. To date, 73 mother-child dyads have participated postpartum. Breastfeeding initiation was 85.9% and median (interquartile range) duration of any breastfeeding was 1.4 (0.5-4.0) months. Infants were introduced to solid foods at 5.0 months (4.0-6.0) and cow's milk at 12.0 (10.0-13.0) months. At 12 months postpartum, 66.7% of women were overweight or obese, 63.7% at 2 years. Compared with recommendations, reported median maternal nutrient intakes from 24-h recall were low in fibre, folate, iodine, calcium, potassium and vitamin D and high in proportions of energy from total and saturated fat. Limitations of this study include a small sample size and incomplete data for the cohort at each time point. Preliminary data from this ongoing cohort of Indigenous Australian women and children suggest that women may need support to optimize nutrient intakes and to attain a healthy body weight for themselves and their children.

Studies in porphyria. VI. Biosynthesis of porphyrins in mammalian skin and in the skin of porphyric patients.

Porphyrin biosynthesis in mammalian skin and in skin obtained from patients with selected types of porphyria has been studied. Cutaneous porphyrinogenesis required the precursor delta-aminolevulinic acid (ALA) which, when added to murine, rat, and human skin in vitro, was rapidly converted to porphyrins. Total porphyrin content was quantitated by fluorescence assay, and spectral studies indicated that more than 80% of the porphyrin produced was protoporphyrin. The majority of skin porphyrinogenesis occurrred in epidermis or in epidermal derivatives such as hair roots. Known inducers of hepatic delta-aminolevulinic acid synthetase (ALAS), the rate-limiting enzyme for heme biosynthesis, were not inducers when added to skin in vitro. Skin from patients with acute intermittent porphyria demonstrated a 43% decrease in cutaneous porphyrin production as compared to unaffected normals. This is consistent with the known deficiency of uroporphyrinogen synthetase that has been previously demonstrated in the liver and red blood cells of these patients. Porphyrinogenesis in skin of patients with porphyria cutanea tarda was not different from controls. These studies demonstrate that skin has the enzymatic capacity to synthesize porphyrins from added ALA and that cutaneous porphyrinogenesis from ALA is deficient in patients with acute intermittent porphyria.

Psychosocial impact of type-specific herpes simplex serological testing on asymptomatic sexual health clinic attendees.

The usefulness of type-specific testing for herpes simplex virus type 2 (HSV-2) is much debated with proponents arguing for likely change in the sexual behaviour of asymptomatic carriers and opponents suggesting that testing may have significant adverse psychological impact while not promoting behaviour change. In the present study we examine the impact of HSV-2 serological testing on psychological well-being, self-esteem, anxiety, sexual self-perceptions and sexual practices among a sample of 180 clients of a sexual health clinic. Of the participants, 21 (11.7%) were HSV-2 positive at entry to the study. No adverse psychological consequences of a positive test were observed among those participants followed for 3 months (n=124) or for 6 months (n=97). There was little significant change observed in sexual behaviour although a general but not significant pattern of decreased sexual behaviour with casual partners was observed among participants who tested HSV-2 negative. While supportive of the value of HSV-2 testing, these findings require replication in larger samples and different populations.

Outcomes of an educational activity with Victorian GPs aimed at improving knowledge and practices in relation to sexually transmissible diseases.

OBJECTIVE: To measure the effect of a simple educational strategy for general practitioners (GPs) on their knowledge and self-reported practice in relation to sexually transmissible disease (STD) management. METHOD: In 1995, we surveyed 520 Victorian GPs; 444 (85%) responded. A sub-sample of 242 was sent an educational package in relation to STD management that required them to reflect on their performance in the survey in relation to that of the sample as a whole. Two months after they had received the package, a brief follow-up questionnaire, using a selection of questions from the first survey, was sent to these GPs. RESULTS: Practitioners showed statistically significant improvements in knowledge and self-reported practice for four of the six outcomes that were examined. CONCLUSION: A relatively simple educational package for GPs had a high participation rate and resulted in improvements in knowledge and self-reported practice that could contribute to increased STD case finding in the general practice setting. IMPLICATIONS: The key to enabling GPs to make a greater contribution to improved STD control is to encourage them to be more active in diagnosing and treating asymptomatic disease. For asymptomatic patients, sexual history-taking and selective screening are important skills but there are barriers to their implementation in the general practice setting. A key objective of GP educational programs in relation to STDs is to increase their likelihood of taking a sexual history and the significant increase in this measure for the whole sample was encouraging.

Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers.

Genes have been identified for which germline mutations are associated with high lifetime risks of breast, colorectal and other cancers. Identification of mutation carriers through genetic testing is important as it could help lower cancer incidence and mortality. The translation of genetic information into better health outcomes is expensive because of the costs of genetic counselling as well as laboratory testing. Approaches to triage for mutation screening of known genes which rely on cancer family history are not necessarily sensitive and specific or the most cost-effective. Recent population-based research has shown that the cancers and precancerous lesions arising in mutation carriers have specific molecular and morphological characteristics. People with colorectal cancer, especially those diagnosed at a young age, whose tumours exhibit microsatellite instability and some specific pathology and immunohistochemically-defined features are more likely to carry a germline mutation in one of four mismatch repair genes. Some morphological and immunohistochemically-defined features are associated with breast cancers arising in women who carry BRCA1 or BRCA2 germline mutations, especially if at a young age. Screening paradigms based on molecular and morphological features that predict mutation status, especially if focused on early-onset disease, have the potential to identify mutation carriers with greater sensitivity and specificity, and in a more cost-effective way, than those based on family history alone. Genetic testing results could help inform treatment if those affected are tested soon after diagnosis using pathology-led selection strategies to identify cases most likely to carry germline mutations. We propose how this new approach could be undertaken by having genetic testing and counselling prioritised to those with the greatest probability of carrying a germline mutation in these known cancer predisposition genes.

Predictors of the use of complementary and alternative medicine (CAM) by women at high risk for breast cancer.

BACKGROUND: Few data exist regarding the use of complementary and alternative medicine (CAM) by unaffected women at high risk of breast cancer. METHODS: Self-reported CAM use by women from multiple-case breast cancer families was obtained by questionnaire. Factors associated with CAM use were assessed using multiple logistic regression. RESULTS: Of 892 women, 55% (n=489) used CAM, 6% (n=53) specifically to prevent cancer. CAM use was independently associated with tertiary education level (OR 2.56, 95% CI 1.83-3.58, p<0.001), greater physical activity (OR 1.05 per hour of physical activity/week, 95% CI 1.00-1.10, p=0.049), greater anxiety (OR 1.92, 95% CI 1.16-3.16, p=0.01), not currently smoking (OR 0.64, 95% CI 0.42-0.97, p=0.037) and lower perceived BC risk (OR 0.82 per 20 percentage points, 95% CI 0.72-0.94, p=0.005). CONCLUSIONS: The majority of high-risk women use CAM, but mostly for reasons other than cancer prevention. Most predictors of CAM use are consistent with the limited literature for women at high risk for cancer.

Understandings of the 'natural' body: a comparison of the views of users and providers of emergency contraception.

BACKGROUND: 'Natural' is a pervasive discourse with mixed meanings in contemporary society. I was interested in how users and providers of emergency contraception conceptualised the 'natural' body in contraceptive decision making. METHOD: Thirty-two users and 19 providers of emergency contraception from three sites in metropolitan Melbourne were interviewed, or participated in focus groups, about emergency contraceptive use, contraceptive decision making and perceptions of risk. The qualitative data were transcribed and coded to identify the key ways that both users and providers perceived the 'natural' body. RESULTS: Providers and users adopted different frameworks for interpreting the discourse of the 'natural' body. Thirteen of the 32 users identified the 'natural' body as a factor in their decision making. They identified a 'natural' body as a body experiencing no interruption with ovulation, and/or free from unwanted side effects. Six of the 13 women who discussed the 'natural' body used a contraceptive that allowed them to preserve their natural body (e.g. condoms). The remaining seven women identified it as an ideal that they could not achieve. Providers in general discredited the idea of a 'natural' body and instead conceptualised contraceptive decision making as a 'simple' risk-benefit analysis. CONCLUSIONS: The differences between the two groups can be understood in a number of different ways. The important conclusion however, is that the different perspectives present a potential barrier to effective communication in the contraceptive consultation, and may be able to be resolved through the development of an embodied risk-benefit analysis that may be meaningful to both groups.