Towards quantitative condition assessment of biodiversity outcomes: Insights from Australian marine protected areas.

Protected area management effectiveness (PAME) evaluation is increasingly undertaken to evaluate governance, assess conservation outcomes and inform evidence-based management of protected areas (PAs). Within PAME, quantitative approaches to assess biodiversity outcomes are now emerging, where biological monitoring data are directly assessed against quantitative (numerically defined) condition categories (termed quantitative condition assessments). However, more commonly qualitative condition assessments are employed in PAME, which use descriptive condition categories and are evaluated largely with expert judgement that can be subject to a range of biases, such as linguistic uncertainty and overconfidence. Despite the benefits of increased transparency and repeatability of evaluations, quantitative condition assessments are rarely used in PAME. To understand why, we interviewed practitioners from all Australian marine protected area (MPA) networks, which have access to long-term biological monitoring data and are developing or conducting PAME evaluations. Our research revealed that there is a desire within management agencies to implement quantitative condition assessment of biodiversity outcomes in Australian MPAs. However, practitioners report many challenges in transitioning from undertaking qualitative to quantitative condition assessments of biodiversity outcomes, which are hampering progress. Challenges include a lack of agency capacity (staff numbers and money), knowledge gaps, and diminishing public and political support for PAs. We point to opportunities to target strategies that will assist agencies overcome these challenges, including new decision support tools, approaches to better finance conservation efforts, and to promote more management relevant science. While a single solution is unlikely to achieve full evidence-based conservation, we suggest ways for agencies to target strategies and advance PAME evaluations toward best practice.

Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening.

AIM: To determine whether single nucleotide polymorphisms (SNPs) can be used to identify people who should be screened for colorectal cancer. METHODS: We simulated one million people with and without colorectal cancer based on published SNP allele frequencies and strengths of colorectal cancer association. We estimated 5-year risks of colorectal cancer by number of risk alleles. RESULTS: We identified 45 SNPs with an average 1.14-fold increase colorectal cancer risk per allele (range: 1.05-1.53). The colorectal cancer risk for people in the highest quintile of risk alleles was 1.81-times that for the average person. CONCLUSION: We have quantified the extent to which known susceptibility SNPs can stratify the population into clinically useful colorectal cancer risk categories.

Screening practices of Australian men and women categorized as "at or slightly above average risk" of colorectal cancer.

PURPOSE: Australia has one of the highest incidences of colorectal cancer (CRC) in the world. In 2006, the federal government introduced a screening program consisting of a one-off fecal occult blood test offered to people turning 50, 55, or 65 years. We conducted a population-based study to estimate CRC screening practices existing outside the current program. METHODS: A total of 1887 unaffected subjects categorized "at or slightly above average risk" of CRC were selected from the Australasian Colorectal Cancer Family Registry. We calculated the proportions of participants that reported appropriate, under- and over-screening according to national guidelines. We performed a logistic regression analysis to evaluate associations between over-screening and a set of socio-demographic factors. RESULTS: Of 532 participants at average risk of CRC, eligible for screening, 4 (0.75 %) reported appropriate screening, 479 (90 %) reported never having been screened, 18 (3 %) reported some but less than appropriate screening, and 31 (6 %) reported over-screening. Of 412 participants aged 50 years or over, slightly above average risk of CRC, 1 participant (0.25 %) reported appropriate screening, 316 (77 %) reported no screening, and 11 (3 %) reported some but less than appropriate screening. Among participants under age 50 years, 2 % of those at average risk and 10 % of those slightly above average risk reported over-screening. Middle-aged people, those with a family history of CRC and those with a university degree, were more likely to be over-screened. CONCLUSION: Overall, the level of CRC screening participation was low and the vast majority of screening tests undertaken were inappropriate in terms of timing, modality, or frequency.

Twin studies for the prognosis, prevention and treatment of musculoskeletal conditions.

BACKGROUND: Musculoskeletal conditions are highly prevalent in our ageing society and are therefore incurring substantial increases in population levels of years lived with disability (YLD). An evidence-based approach to the prognosis, prevention, and treatment of those disorders can allow an overall improvement in the quality of life of patients, while also softening the burden on national health care systems. METHODS: In this Masterclass article, we provide an overview of the most relevant twin study designs, their advantages, limitations and major contributions to the investigation of traits related to the domain of musculoskeletal physical therapy. CONCLUSIONS: Twin studies can be an important scientific tool to address issues related to musculoskeletal conditions. They allow researchers to understand how genes and environment combine to influence human health and disease. Twin registries and international collaboration through existing networks can provide resources for achieving large sample sizes and access to expertise in study design and analysis of twin data.

Twin birth changes DNA methylation of subsequent siblings.

We asked if twin birth influences the DNA methylation of subsequent siblings. We measured whole blood methylation using the HumanMethylation450 array for siblings from two twin and family studies in Australia and Korea. We compared the means and correlations in methylation between pairs of siblings born before a twin birth (BT siblings), born on either side of a twin birth (B/AT pairs) and born after a twin birth (AT siblings). For the genome-wide average DNA methylation, the correlation for AT pairs (rAT) was larger than the correlation for BT pairs (rBT) in both studies, and from the meta-analysis, rAT = 0.46 (95% CI: 0.26, 0.63) and rBT = -0.003 (95% CI: -0.30, 0.29) (P = 0.02). B/AT pairs were not correlated (from the meta-analysis rBAT = 0.08; 95% CI: -0.31, 0.45). Similar results were found for the average methylation of several genomic regions, e.g., CpG shelf and gene body. BT and AT pairs were differentially correlated in methylation for 15 probes (all P < 10-7), and the top 152 differentially correlated probes (at P < 10-4) were enriched in cell signalling and breast cancer regulation pathways. Our observations are consistent with a twin birth changing the intrauterine environment such that siblings both born after a twin birth are correlated in DNA methylation.

The Impact of Receiving Predictive Genetic Information about Lynch Syndrome on Individual Colonoscopy and Smoking Behaviors.

BACKGROUND: This study investigated whether receiving the results of predictive genetic testing for Lynch syndrome, indicating the presence or absence of an inherited predisposition to various cancers, including colorectal cancer, was associated with change in individual colonoscopy and smoking behaviors, which could prevent colorectal cancer. METHODS: The study population included individuals with no previous diagnosis of colorectal cancer, whose families had already identified deleterious mutations in the mismatch repair or EPCAM genes. Hypotheses were generated from a simple health economics model and tested against individual-level panel data from the Australasian Colorectal Cancer Family Registry. RESULTS: The empirical analysis revealed evidence consistent with some of the hypotheses, with a higher likelihood of undergoing colonoscopy in those who discovered their genetic predisposition to colorectal cancer and a lower likelihood of quitting smoking in those who discovered their lack thereof. CONCLUSIONS: Predictive genetic information about Lynch syndrome was associated with change in individual colonoscopy and smoking behaviors but not necessarily in ways to improve population health. IMPACT: The study findings suggest that the impact of personalized medicine on disease prevention is intricate, warranting further analyses to determine the net benefits and costs. Cancer Epidemiol Biomarkers Prev; 25(11); 1524-33. ©2016 AACR.

Screening participation predictors for people at familial risk of colorectal cancer: a systematic review.

CONTEXT: People with a family history of colorectal cancer (CRC) are at increased risk of developing the disease. Information on the screening practices of this segment of the population is scarce. EVIDENCE ACQUISITION: A systematic review was conducted of observational studies to identify factors associated with CRC screening participation for people at increased risk due to family history of the disease.MEDLINE, Cinahl Information Sevices, Embase, and PsycINFO databases were searched comprehensively between January 1995 and May 2012 to identify relevant articles. To be included, studies had to report on screening for people who had at least one first-degree relative with CRC, have described the study design, and reported on at least two predictors of adherence to CRC screening using a multivariate analysis. EVIDENCE SYNTHESIS: The search identified a total of 4986 articles, of which ten met the review's inclusion criteria. There were important inconsistencies among studies in the factors that were associated with screening. Receiving recommendations from clinicians was the most consistent predictor identified across studies. The review also revealed a consistent pattern of association with predictors related to familial aspects of CRC, such as strength of family history, and relationship to the affected relative. Among the psychological constructs, "social influence" emerged as the most consistent predictor of screening participation. CONCLUSIONS: This review provides evidence that clinicians, as well as use of family history and social networks, offer the most promising avenues to promoting and improving screening participation by individuals at increased risk of colorectal cancer.

Screening practices of unaffected people at familial risk of colorectal cancer.

Our objective was to determine screening practices of unaffected people in the general population at moderately increased and potentially high risk of colorectal cancer (CRC) because of their family history of the disease. A total of 1,627 participants in the Australasian Colorectal Cancer Family Registry study were classified into two CRC risk categories, according to the strength of their family history of the disease. We calculated the proportion of participants that adhered to national CRC screening guidelines by age group and for each familial risk category. We carried out a multinomial logistic regression analysis to evaluate the associations between screening and sociodemographic factors. Of the 1,236 participants at moderately increased risk of CRC, 70 (6%) reported having undergone guideline-defined "appropriate" screening, 251 (20%) reported some, but less than appropriate screening, and 915 (74%) reported never having had any CRC screening test. Of the 392 participants at potentially high risk of CRC, three (1%) reported appropriate screening, 140 (36%) reported some, but less than appropriate screening, and 249 (64%) reported never having had any CRC screening test. On average, those of middle age, higher education, and who had resided in Australia longer were more likely to have had screening for CRC. The uptake of recommended screening by unaffected people at the highest familial risk of developing CRC is extremely low. Guidelines for CRC screening are not being implemented in the population. More research is needed to identify the reasons so as to enable development of strategies to improve participation in screening.