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1.
Ann Surg Oncol ; 2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38802717

RESUMEN

BACKGROUND: Predicting which patients with American Joint Committee on Cancer (AJCC) T1-T2 melanomas will have a positive sentinel lymph node (SLN) is challenging. Melanoma Institute Australia (MIA) developed an internationally validated SLN metastatic risk calculator. This study evaluated the nomogram's impact on T1-T2 melanoma patient management at MIA. METHODS: SLN biopsy (SLNB) rates were compared for the pre- and post-nomogram periods of 1 July 2018-30 June 2019 and 1 August 2020-31 July 2021, respectively. RESULTS: Overall, 850 patients were identified (pre-nomogram, 383; post-nomogram, 467). SLNB was performed in 29.0% of patients in the pre-nomogram group and 34.5% in the post-nomogram group (p = 0.091). The overall positivity rate was 16.2% in the pre-nomogram group and 14.9% in the post-nomogram group (p = 0.223). SLNB was performed less frequently in T1a melanoma patients in the pre-nomogram group (1.1%, n = 2/177) than in the post-nomogram group (8.6%, n = 17/198) [p ≤ 0.001]. This increase was particularly for melanomas with a risk score ≥ 5%, with an SLN positivity rate of 11.8% in the post-nomogram group (p = 0.004) compared with zero. For T1b melanomas with a risk score of > 10%, the SLNB rate was 40.0% (8/20) pre-nomogram and 75.0% (12/16) post-nomogram (p = 0.049). CONCLUSIONS: In this specialized center, the SLN risk calculator appears to influence practice for melanomas previously considered low risk for metastasis, with increased use of SLNB for T1a and higher-risk T1b melanomas. Further evaluation is required across broader practice settings. Melanoma management guidelines could be updated to incorporate the availability of nomograms to better select patients for SLNB than previous criteria.

2.
Br J Dermatol ; 190(2): 174-183, 2024 Jan 23.
Artículo en Inglés | MEDLINE | ID: mdl-37562043

RESUMEN

BACKGROUND: Compared with the general population, people with a previous melanoma are at increased risk of developing another primary melanoma. Understanding the risk factors associated with multiple primary melanomas can inform patient education and tailored surveillance. OBJECTIVES: To examine the risk factors for subsequent primary melanoma in people with a previous melanoma, by conducting a systematic review and meta-analysis of the available data. METHODS: A systematic literature search was conducted in CINAHL, Cochrane Central Register of Controlled Trials (CENTRAL), Embase and MEDLINE. Studies that reported a risk estimate or raw frequencies and conducted between 1982 and August 2022 were included. Adjusted risk estimates were prioritized over univariable risk estimates. PRISMA reporting guidelines were followed. Random effects meta-analysis was conducted to derive pooled estimates. Quality assessment was conducted by two researchers using the Newcastle-Ottawa scale. GRADE was used to rate the certainty and quality of the evidence. RESULTS: Data from 27 studies involving 413 181 participants were pooled and analysed. Risk factors assessed included age and sex, environmental, lifestyle, phenotypic, genetic and histopathological factors, and there was wide variation in how they were categorized and analysed. Independent risk factors identified from pooled analyses included male sex [hazard ratio (HR) 1.46, 95% confidence interval (CI) 1.40-1.53], increasing age per 10 years (HR 1.19, 95% CI 1.14-1.24), light skin colour (HR 1.44, 95% CI 1.23-1.70), family history [odds ratio (OR) 1.79, 95% CI 1.25-2.56], CDKN2A mutation (OR 5.29, 95% CI 2.70-10.37), a high or moderate naevus count [OR 2.63 (95% CI 1.61-4.30) and OR 1.64 (95% CI 1.07-2.51), respectively], one or more atypical naevi (OR 3.01, 95% CI 1.52-5.97), first lesions occurring on the head or neck, lentigo maligna subtype (HR 1.16, 95% CI 1.15-1.17), other subtype (HR 1.14, 95% CI 1.03-1.27) and inadequate sun protection (HR 1.85, 95% CI 0.98-3.50). Based on the GRADE criteria, there was high to very low confidence in the pooled effect estimates. CONCLUSIONS: This meta-analysis identified several consistent, independent risk factors for the development of subsequent primary melanoma. These findings will help stratify the risk of subsequent melanoma, tailor skin-check schedules and inform patient education.


Asunto(s)
Melanoma , Humanos , Masculino , Niño , Melanoma/patología , Piel/patología , Factores de Riesgo
3.
Prev Med ; 181: 107897, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38378124

RESUMEN

BACKGROUND: Risk-tailored screening has emerged as a promising approach to optimise the balance of benefits and harms of existing population cancer screening programs. It tailors screening (e.g., eligibility, frequency, interval, test type) to individual risk rather than the current one-size-fits-all approach of most organised population screening programs. However, the implementation of risk-tailored cancer screening in the population is challenging as it requires a change of practice at multiple levels i.e., individual, provider, health system levels. This scoping review aims to synthesise current implementation considerations for risk-tailored cancer screening in the population, identifying barriers, facilitators, and associated implementation outcomes. METHODS: Relevant studies were identified via database searches up to February 2023. Results were synthesised using Tierney et al. (2020) guidance for evidence synthesis of implementation outcomes and a multilevel framework. RESULTS: Of 4138 titles identified, 74 studies met the inclusion criteria. Most studies in this review focused on the implementation outcomes of acceptability, feasibility, and appropriateness, reflecting the pre-implementation stage of most research to date. Only six studies included an implementation framework. The review identified consistent evidence that risk-tailored screening is largely acceptable across population groups, however reluctance to accept a reduction in screening frequency for low-risk informed by cultural norms, presents a major barrier. Limited studies were identified for cancer types other than breast cancer. CONCLUSIONS: Implementation strategies will need to address alternate models of delivery, education of health professionals, communication with the public, screening options for people at low risk of cancer, and inequity in outcomes across cancer types.


Asunto(s)
Neoplasias de la Mama , Detección Precoz del Cáncer , Humanos , Femenino , Personal de Salud , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/prevención & control
4.
Australas J Dermatol ; 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38845454

RESUMEN

OBJECTIVE: We investigated the association between sun protection behaviours and demographic and melanoma risk characteristics of patients attending Australian melanoma specialist clinics. This may assist in targeting and tailoring melanoma prevention patient education for people at high-risk and specific population subgroups. METHODS: A cross-sectional analysis of questionnaire data collected from participants attending the dermatology clinics at two major melanoma centres in Sydney, Australia between February 2021 and September 2023. The primary outcome was Sun Protection Habits (SPH) index (a summary score measured as habitual past month use of sunscreen, hats, sunglasses, a shirt with sleeves that covers the shoulders, limiting midday sun exposure and seeking shade, using a Likert scale). The primary analysis considered the SPH index and its component items scored as continuous. RESULTS: Data from 883 people were analysed. Factors associated with less frequent sun protection behaviours overall included male gender, no personal history of melanoma, lower perceived risk, lower calculated 10-year risk of developing melanoma, and no private health insurance. People aged >61 years reported lower use of sunscreen but higher use of hats and sleeved-shirts compared with people in the younger age group. There was no difference in overall sun protection behaviours according to family history of melanoma, country of birth or by lifetime melanoma risk among people without a personal history of melanoma. CONCLUSIONS: These findings highlight the potential for targeting high-risk individuals with less frequent use of sun protection for patient education, public health messaging and ultimately improving sun protection behaviours.

5.
Hum Mol Genet ; 29(21): 3578-3587, 2021 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-33410475

RESUMEN

Germline genetic variants have been identified, which predispose individuals and families to develop melanoma. Tumor thickness is the strongest predictor of outcome for clinically localized primary melanoma patients. We sought to determine whether there is a heritable genetic contribution to variation in tumor thickness. If confirmed, this will justify the search for specific genetic variants influencing tumor thickness. To address this, we estimated the proportion of variation in tumor thickness attributable to genome-wide genetic variation (variant-based heritability) using unrelated patients with measured primary cutaneous melanoma thickness. As a secondary analysis, we conducted a genome-wide association study (GWAS) of tumor thickness. The analyses utilized 10 604 individuals with primary cutaneous melanoma drawn from nine GWAS datasets from eight cohorts recruited from the general population, primary care and melanoma treatment centers. Following quality control and filtering to unrelated individuals with study phenotypes, 8125 patients were used in the primary analysis to test whether tumor thickness is heritable. An expanded set of 8505 individuals (47.6% female) were analyzed for the secondary GWAS meta-analysis. Analyses were adjusted for participant age, sex, cohort and ancestry. We found that 26.6% (SE 11.9%, P = 0.0128) of variation in tumor thickness is attributable to genome-wide genetic variation. While requiring replication, a chromosome 11 locus was associated (P < 5 × 10-8) with tumor thickness. Our work indicates that sufficiently large datasets will enable the discovery of genetic variants associated with greater tumor thickness, and this will lead to the identification of host biological processes influencing melanoma growth and invasion.


Asunto(s)
Biomarcadores de Tumor/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Mutación de Línea Germinal , Melanoma/patología , Neoplasias Cutáneas/patología , Humanos , Melanoma/diagnóstico , Fenotipo , Pronóstico , Neoplasias Cutáneas/diagnóstico , Tasa de Supervivencia
6.
Genet Med ; 25(12): 100970, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37658729

RESUMEN

PURPOSE: Evidence indicates that a melanoma prevention program using personalized genomic risk provision and genetic counseling can affect prevention behaviors, including reducing sunburns in adults with no melanoma history. This analysis evaluated its longer-term cost-effectiveness from an Australian health system perspective. METHODS: The primary outcome was incremental cost effectiveness ratio (ICER) of genomic risk provision (intervention) compared with standard prevention advice. A decision-analytic Markov model was developed using randomized trial data to simulate lifetime cost-effectiveness. All costs were presented in 2018/19 Australian dollars (AUD). The intervention effect on reduced sunburns was stratified by sex and traditional risk, which was calculated through a validated prediction model. Deterministic and probabilistic sensitivity analyses were undertaken for robustness checks. RESULTS: The per participant cost of intervention was AUD$189. Genomic risk provision targeting high-traditional risk individuals produced an ICER of AUD$35,254 (per quality-adjusted life year gained); sensitivity analyses indicated the intervention would be cost-effective in more than 50% of scenarios. When the intervention was extended to low-traditional risk groups, the ICER was AUD$43,746 with a 45% probability of being cost-effective. CONCLUSION: Genomic risk provision targeted to high-traditional melanoma risk individuals is likely a cost-effective strategy for reducing sunburns and will likely prevent future melanomas and keratinocyte carcinomas.


Asunto(s)
Melanoma , Quemadura Solar , Adulto , Humanos , Melanoma/genética , Melanoma/prevención & control , Australia , Análisis Costo-Beneficio , Análisis de Costo-Efectividad , Genómica , Factores de Riesgo , Años de Vida Ajustados por Calidad de Vida
7.
Transfusion ; 63(5): 1012-1022, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37057641

RESUMEN

BACKGROUND: Previous mixed findings on the associations between whole blood (WB) donation and risk of cardiovascular diseases (CVD) may in part reflect inadequate adjustment for the "healthy donor effect" (HDE). METHODS: We used the Sax Institute's 45 and Up Study linked with blood donation history and other health-related databases to examine the association between regular, high-frequency WB donation and the risk of CVD. To mitigate the impact of HDE, we used a "5-years qualification period," in which donors must donate at least 1 WB donation in the 1st and 5th year of "qualification period." We then compared the risk of CVD in the years following the "qualification period" between the regular high-frequency WB donors (≥2 WB donation in each qualification year) and others using Cox proportional-hazards models. Analyses were adjusted for potential confounders, such as sociodemographic, lifestyle, and health-related variables, and results are reported separately for male and female donors. RESULTS: A total of 2736 male and 2917 female donors were included in the analyses. The median years of follow-up per donor was 5.84 years (Q1-Q3, 5.47-6.23). The rate of CVD hospitalization was 11.20 and 4.50 per 1000 person-years for males and females, respectively. In fully adjusted models, the risk (hazard ratio) of CVD in regular high-frequency donors compared to other donors was 0.93 (95% Confidence Interval (CI), 0.68-1.29) for males and 0.79 (95% CI, 0.49-1.28) for females. CONCLUSIONS: We did not observe a statistically significant reduction of CVD risk in regular, high-frequency WB donors when adjusted for potential confounders.


Asunto(s)
Donación de Sangre , Enfermedades Cardiovasculares , Persona de Mediana Edad , Femenino , Masculino , Humanos , Anciano , Donantes de Sangre , Enfermedades Cardiovasculares/epidemiología , Australia/epidemiología , Bases de Datos Factuales
8.
Br J Dermatol ; 188(6): 770-776, 2023 05 24.
Artículo en Inglés | MEDLINE | ID: mdl-36879448

RESUMEN

BACKGROUND: Population-wide screening for melanoma is not cost-effective, but genetic characterization could facilitate risk stratification and targeted screening. Common Melanocortin-1 receptor (MC1R) red hair colour (RHC) variants and Microphthalmia-associated transcription factor (MITF) E318K separately confer moderate melanoma susceptibility, but their interactive effects are relatively unexplored. OBJECTIVES: To evaluate whether MC1R genotypes differentially affect melanoma risk in MITF E318K+ vs. E318K- individuals. MATERIALS AND METHODS: Melanoma status (affected or unaffected) and genotype data (MC1R and MITF E318K) were collated from research cohorts (five Australian and two European). In addition, RHC genotypes from E318K+ individuals with and without melanoma were extracted from databases (The Cancer Genome Atlas and Medical Genome Research Bank, respectively). χ2 and logistic regression were used to evaluate RHC allele and genotype frequencies within E318K+/- cohorts depending on melanoma status. Replication analysis was conducted on 200 000 general-population exomes (UK Biobank). RESULTS: The cohort comprised 1165 MITF E318K- and 322 E318K+ individuals. In E318K- cases MC1R R and r alleles increased melanoma risk relative to wild type (wt), P < 0.001 for both. Similarly, each MC1R RHC genotype (R/R, R/r, R/wt, r/r and r/wt) increased melanoma risk relative to wt/wt (P < 0.001 for all). In E318K+ cases, R alleles increased melanoma risk relative to the wt allele [odds ratio (OR) 2.04 (95% confidence interval 1.67-2.49); P = 0.01], while the r allele risk was comparable with the wt allele [OR 0.78 (0.54-1.14) vs. 1.00, respectively]. E318K+ cases with the r/r genotype had a lower but not significant melanoma risk relative to wt/wt [OR 0.52 (0.20-1.38)]. Within the E318K+ cohort, R genotypes (R/R, R/r and R/wt) conferred a significantly higher risk compared with non-R genotypes (r/r, r/wt and wt/wt) (P < 0.001). UK Biobank data supported our findings that r did not increase melanoma risk in E318K+ individuals. CONCLUSIONS: RHC alleles/genotypes modify melanoma risk differently in MITF E318K- and E318K+ individuals. Specifically, although all RHC alleles increase risk relative to wt in E318K- individuals, only MC1R R increases melanoma risk in E318K+ individuals. Importantly, in the E318K+ cohort the MC1R r allele risk is comparable with wt. These findings could inform counselling and management for MITF E318K+ individuals.


Asunto(s)
Melanoma , Neoplasias Cutáneas , Humanos , Alelos , Receptor de Melanocortina Tipo 1/genética , Factor de Transcripción Asociado a Microftalmía/genética , Australia/epidemiología , Melanoma/genética , Genotipo , Predisposición Genética a la Enfermedad/genética , Neoplasias Cutáneas/genética
9.
Twin Res Hum Genet ; 26(1): 40-48, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36950972

RESUMEN

Considerable progress continues to be made with regards to the value and use of disease associated polygenic scores (PGS). PGS aim to capture a person's genetic liability to a condition, disease, or a trait, combining information across many risk variants and incorporating their effect sizes. They are already available for clinicians and consumers to order in Australasia. However, debate is ongoing over the readiness of this information for integration into clinical practice and population health. This position statement provides the viewpoint of the Human Genetics Society of Australasia (HGSA) regarding the clinical application of disease-associated PGS in both individual patients and population health. The statement details how PGS are calculated, highlights their breadth of possible application, and examines their current challenges and limitations. We consider fundamental lessons from Mendelian genetics and their continuing relevance to PGS, while also acknowledging the distinct elements of PGS. Use of PGS in practice should be evidence based, and the evidence for the associated benefit, while rapidly emerging, remains limited. Given that clinicians and consumers can already order PGS, their current limitations and key issues warrant consideration. PGS can be developed for most complex conditions and traits and can be used across multiple clinical settings and for population health. The HGSA's view is that further evaluation, including regulatory, implementation and health system evaluation are required before PGS can be routinely implemented in the Australasian healthcare system.


Asunto(s)
Herencia Multifactorial , Salud Poblacional , Humanos , Australasia/epidemiología , Herencia Multifactorial/genética , Genética Humana
10.
Australas J Dermatol ; 64(2): 177-193, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36960976

RESUMEN

Skin cancer is a growing global problem and a significant health and economic burden. Despite the practical necessity for skin cancer to be managed in primary care settings, little is known about how quality of care is or should be measured in this setting. This scoping review aimed to capture the breadth and range of contemporary evidence related to the measurement of quality in skin cancer management in primary care settings. Six databases were searched for relevant texts reporting on quality measurement in primary care skin cancer management. Data from 46 texts published since 2011 were extracted, and quality measures were catalogued according to the three domains of the Donabedian model of healthcare quality (structure, process and outcome). Quality measures within each domain were inductively analysed into 13 key emergent groups. These represented what were deemed to be the most relevant components of skin cancer management as related to structure, process or outcomes measurement. Four groups related to the structural elements of care provision (e.g. diagnostic tools and equipment), five related to the process of care delivery (e.g. diagnostic processes) and four related to the outcomes of care (e.g. poor treatment outcomes). A broad range of quality measures have been documented, based predominantly on articles using retrospective cohort designs; systematic reviews and randomised controlled trials were limited.


Asunto(s)
Neoplasias Cutáneas , Humanos , Estudios Retrospectivos , Neoplasias Cutáneas/terapia , Atención Primaria de Salud
11.
Hum Mol Genet ; 29(17): 2976-2985, 2020 10 10.
Artículo en Inglés | MEDLINE | ID: mdl-32716505

RESUMEN

Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants. Known high-penetrance mutations account for only about half of all densely affected cutaneous melanoma families, and the causes of familial clustering in the remainder are unknown. We hypothesize that some clustering is due to the cumulative effect of a large number of variants of individually small effect. Common, low-penetrance genetic risk variants can be combined into polygenic risk scores. We used a polygenic risk score for cutaneous melanoma to compare families without known high-penetrance mutations with unrelated melanoma cases and melanoma-free controls. Family members had significantly higher mean polygenic load for cutaneous melanoma than unrelated cases or melanoma-free healthy controls (Bonferroni-corrected t-test P = 1.5 × 10-5 and 6.3 × 10-45, respectively). Whole genome sequencing of germline DNA from 51 members of 21 families with low polygenic risk for melanoma identified a CDKN2A p.G101W mutation in a single family but no other candidate high-penetrance melanoma susceptibility genes. This work provides further evidence that melanoma, like many other common complex disorders, can arise from the joint action of multiple predisposing factors, including rare high-penetrance mutations, as well as via a combination of large numbers of alleles of small effect.


Asunto(s)
Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Predisposición Genética a la Enfermedad , Melanoma/genética , Penetrancia , Neoplasias Cutáneas/genética , Alelos , Femenino , Mutación de Línea Germinal/genética , Humanos , Masculino , Melanoma/epidemiología , Melanoma/patología , Herencia Multifactorial/genética , Mutación/genética , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/patología , Rayos Ultravioleta/efectos adversos , Melanoma Cutáneo Maligno
12.
Br J Dermatol ; 186(5): 823-834, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-34921685

RESUMEN

BACKGROUND: Previous studies suggest that polygenic risk scores (PRSs) may improve melanoma risk stratification. However, there has been limited independent validation of PRS-based risk prediction, particularly assessment of calibration (comparing predicted to observed risks). OBJECTIVES: To evaluate PRS-based melanoma risk prediction in prospective UK and Australian cohorts with European ancestry. METHODS: We analysed invasive melanoma incidence in the UK Biobank (UKB; n = 395 647, 1651 cases) and a case-cohort nested within the Melbourne Collaborative Cohort Study (MCCS, Australia; n = 4765, 303 cases). Three PRSs were evaluated: 68 single-nucleotide polymorphisms (SNPs) at 54 loci from a 2020 meta-analysis (PRS68), 50 SNPs significant in the 2020 meta-analysis excluding UKB (PRS50) and 45 SNPs at 21 loci known in 2018 (PRS45). Ten-year melanoma risks were calculated from population-level cancer registry data by age group and sex, with and without PRS adjustment. RESULTS: Predicted absolute melanoma risks based on age and sex alone underestimated melanoma incidence in the UKB [ratio of expected/observed cases: E/O = 0·65, 95% confidence interval (CI) 0·62-0·68] and MCCS (E/O = 0·63, 95% CI 0·56-0·72). For UKB, calibration was improved by PRS adjustment, with PRS50-adjusted risks E/O = 0·91, 95% CI 0·87-0·95. The discriminative ability for PRS68- and PRS50-adjusted absolute risks was higher than for risks based on age and sex alone (Δ area under the curve 0·07-0·10, P < 0·0001), and higher than for PRS45-adjusted risks (Δ area under the curve 0·02-0·04, P < 0·001). CONCLUSIONS: A PRS derived from a larger, more diverse meta-analysis improves risk prediction compared with an earlier PRS, and might help tailor melanoma prevention and early detection strategies to different risk levels. Recalibration of absolute risks may be necessary for application to specific populations.


Asunto(s)
Melanoma , Herencia Multifactorial , Australia/epidemiología , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Melanoma/epidemiología , Melanoma/genética , Polimorfismo de Nucleótido Simple , Estudios Prospectivos , Medición de Riesgo , Factores de Riesgo , Reino Unido/epidemiología
13.
Australas J Dermatol ; 63(3): 352-358, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35522684

RESUMEN

AIMS: Regular skin examinations for early detection of melanoma are recommended for high-risk individuals, but there is minimal consensus regarding what constitutes 'high-risk'. Melanoma risk prediction models may guide this. We compared two online melanoma risk prediction tools: Victorian Melanoma Service (VMS) and Melanoma Institute Australia (MIA) risk tools; to assess classification differences of patients at high-risk of a first primary melanoma. METHODS: Risk factor data for 357 patients presenting with their first primary melanoma were entered into both risk tools. Predicted risks were recorded: 5-year absolute risk (VMS tool and MIA tool); 10-year, lifetime, and relative risk estimates (MIA tool). Sensitivities for each tool were calculated using the same high-risk thresholds. The MIA risk tool showed greater sensitivity on comparison of 5-year absolute risks (90% MIA vs 78% VMS). Patients had significantly higher odds of being classified as high or very-high risk using the MIA risk tool overall, and for each patient subgroup. Using either tool, patients of male gender or with synchronous multiple first primary melanomas were more likely to be correctly classified as high- or very-high risk using 5-year absolute risk thresholds; but tumour invasiveness was unrelated to risk. Classification differed when using the MIA risk categories based on relative risk. CONCLUSIONS: Both melanoma risk prediction tools had high sensitivity for identifying individuals at high-risk and could be used for optimising prevention campaigns. The choice of which risk tool, measure, and threshold for risk stratification depends on the intended purpose of risk prediction, and ideally requires information on specificity.


Asunto(s)
Melanoma , Neoplasias Cutáneas , Australia/epidemiología , Humanos , Masculino , Melanoma/diagnóstico , Melanoma/epidemiología , Melanoma/patología , Invasividad Neoplásica , Factores de Riesgo , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología
14.
Genet Med ; 23(12): 2394-2403, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34385669

RESUMEN

PURPOSE: We evaluated the impact of personal melanoma genomic risk information on sun-related behaviors and psychological outcomes. METHODS: In this parallel group, open, randomized controlled trial, 1,025 Australians of European ancestry without melanoma and aged 18-69 years were recruited via the Medicare database (3% consent). Participants were randomized to the intervention (n = 513; saliva sample for genetic testing, personalized melanoma risk booklet based on a 40-variant polygenic risk score, telephone-based genetic counseling, educational booklet) or control (n = 512; educational booklet). Wrist-worn ultraviolet (UV) radiation dosimeters (10-day wear) and questionnaires were administered at baseline, 1 month postintervention, and 12 months postbaseline. RESULTS: At 12 months, 948 (92%) participants completed dosimetry and 973 (95%) the questionnaire. For the primary outcome, there was no effect of the genomic risk intervention on objectively measured UV exposure at 12 months, irrespective of traditional risk factors. For secondary outcomes at 12 months, the intervention reduced sunburns (risk ratio: 0.72, 95% confidence interval: 0.54-0.96), and increased skin examinations among women. Melanoma-related worry was reduced. There was no overall impact on general psychological distress. CONCLUSION: Personalized genomic risk information did not influence sun exposure patterns but did improve some skin cancer prevention and early detection behaviors, suggesting it may be useful for precision prevention. There was no evidence of psychological harm.


Asunto(s)
Melanoma , Neoplasias Cutáneas , Adolescente , Adulto , Anciano , Australia , Femenino , Genómica , Humanos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/prevención & control , Persona de Mediana Edad , Programas Nacionales de Salud , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/prevención & control , Adulto Joven
15.
Clin Genet ; 100(4): 430-439, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34216141

RESUMEN

Polygenic risk scores (PRS) are becoming increasingly available in clinical practice to evaluate cancer risk. However, little is known about health professionals' knowledge, attitudes, and expectations of PRS. An online questionnaire was distributed by relevant health professional organisations predominately in Australia, Canada and the US to evaluate health professionals' knowledge, views and expectations of PRS. Eligible participants were health professionals who provide cancer risk assessments. Results from the questionnaire were analysed descriptively and content analysis was undertaken of free-text responses. In total, 105 health professionals completed the questionnaire (genetic counsellors 84%; oncologists 6%; clinical geneticists 4%; other 7%). Although responses differed between countries, most participants (61%) had discussed PRS with patients, 20% had ordered a test and 14% had returned test results to a patient. Confidence and knowledge around interpreting PRS were low. Although 69% reported that polygenic testing will certainly or likely influence patient care in the future, most felt unprepared for this. If scaled up to the population, 49% expect that general practitioners would have a primary role in the provision of PRS, supported by genetic health professionals. These findings will inform the development of resources to support health professionals offering polygenic testing, currently and in the future.


Asunto(s)
Actitud del Personal de Salud , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Herencia Multifactorial , Neoplasias/diagnóstico , Neoplasias/genética , Pautas de la Práctica en Medicina , Estudios Transversales , Femenino , Estudio de Asociación del Genoma Completo , Encuestas de Atención de la Salud , Humanos , Masculino , Neoplasias/epidemiología , Encuestas y Cuestionarios
16.
Prev Med ; 146: 106459, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33609617

RESUMEN

Ultraviolet radiation exposure is the leading cause of skin cancer, and childhood and adolescence is a particularly susceptible life period for exposure. This systematic review assessed whether interventions in elementary and secondary school settings reduced sun exposure, sunburns, and development of melanocytic nevi, and improved sun-safe knowledge, attitudes and sun protection behaviors in childhood and adolescence. A systematic search up to June 2020 of MEDLINE, Embase, CINAHL, Cochrane and ProQuest databases was undertaken, for studies conducted among students in an elementary or secondary school setting that compared an intervention group with a pre-intervention or separate control group. Data were summarized using qualitative synthesis. Pooled effects from meta-analysis with random effects were also reported where appropriate. Sixty-five studies were included (22 randomized, 43 non-randomized). Most studies assessed measures of sun-safe behaviors, knowledge and attitudes (57, 48 and 33 studies, respectively), and observed improved sun protection behaviors and sun-safe knowledge, whereas few studies reduced time in the sun. About half improved participants' attitudes towards tanning desirability. Sunburns and nevus counts were less frequently assessed, but about half of these studies observed a reduction. There was substantial heterogeneity for outcomes except attitudes towards the desirability of tanning (pooled odds ratio from 6 studies: 0.81, 95% confidence interval 0.70-0.94). Key positive intervention features included: elementary school settings, interactive features or multiple components, and incorporating social norm influences. Most studies were classified at high risk of bias. In conclusion, school-based sun-related interventions had positive impacts on behaviors and attitudes among elementary and secondary school children.


Asunto(s)
Neoplasias Cutáneas , Baño de Sol , Quemadura Solar , Adolescente , Niño , Conocimientos, Actitudes y Práctica en Salud , Humanos , Instituciones Académicas , Neoplasias Cutáneas/prevención & control , Quemadura Solar/prevención & control , Rayos Ultravioleta
17.
Health Expect ; 24(4): 1326-1336, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33974726

RESUMEN

BACKGROUND: There is mounting evidence of the benefit of risk-stratified (risk-tailored) cancer population screening, when compared to standard approaches. However, shifting towards this approach involves changes to practice that may give rise to implementation challenges. OBJECTIVES: To explore the public's potential acceptance of risk-stratified screening across different cancer types, including reducing screening frequency if at low risk and the use of personal risk information, to inform implementation strategies. METHOD: Semi-structured interviews were conducted with 40 public participants; half had received personal genomic risk information and half had not. Participants were prompted to consider different cancers. Data were analysed thematically as one dataset. RESULTS: Themes included the following: (a) a sense of security; (b) tailored screening is common sense; (c) risk and the need to take action; (d) not every cancer is the same; and (e) trust and belief in health messages. Both groups expressed similar views. Participants were broadly supportive of risk-stratified screening across different cancer types, with strong support for increased screening frequency for high-risk groups. They were less supportive of reduced screening frequency or no screening for low-risk groups. Findings suggest the public will be amenable to reducing screening when the test is invasive and uncomfortable; be less opposed to forgo screening if offered the opportunity to screen at some stage; and view visible cancers such as melanoma differently. CONCLUSIONS: Approaching distinct cancer types differently, tailoring messages for different audiences and understanding reasons for participating in screening may assist with designing future implementation strategies for risk-stratified cancer screening.


Asunto(s)
Detección Precoz del Cáncer , Neoplasias , Australia , Genómica , Humanos , Tamizaje Masivo , Neoplasias/diagnóstico
18.
BMC Public Health ; 21(1): 692, 2021 04 23.
Artículo en Inglés | MEDLINE | ID: mdl-33888076

RESUMEN

BACKGROUND: Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related behaviors have been temporally and geographically limited. METHODS: Individuals from an international consortium of melanoma-prone families (GenoMEL) were retrospectively asked about sunscreen use, sun exposure (time spent outside), sunburns, and sunbed use at several timepoints over their lifetime. Generalized linear mixed models were used to examine the association between these outcomes and birth cohort defined by decade spans, after adjusting for covariates. RESULTS: A total of 2407 participants from 547 families across 17 centers were analyzed. Sunscreen use increased across subsequent birth cohorts, and although the likelihood of sunburns increased until the 1950s birth cohort, it decreased thereafter. Average sun exposure did not change across the birth cohorts, and the likelihood of sunbed use increased in more recent birth cohorts. We generally did not find any differences in sun-related behavior when comparing melanoma cases to non-cases. Melanoma cases had increased sunscreen use, decreased sun exposure, and decreased odds of sunburn and sunbed use after melanoma diagnosis compared to before diagnosis. CONCLUSIONS: Although sunscreen use has increased and the likelihood of sunburns has decreased in more recent birth cohorts, individuals in melanoma-prone families have not reduced their overall sun exposure and had an increased likelihood of sunbed use in more recent birth cohorts. These observations demonstrate partial improvements in melanoma prevention and suggest that additional intervention strategies may be needed to achieve optimal sun-protective behavior in melanoma-prone families.


Asunto(s)
Melanoma , Neoplasias Cutáneas , Quemadura Solar , Humanos , Melanoma/epidemiología , Melanoma/prevención & control , Estudios Retrospectivos , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/prevención & control , Quemadura Solar/epidemiología , Quemadura Solar/prevención & control , Protectores Solares/uso terapéutico
19.
Australas J Dermatol ; 62(3): 300-309, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33860932

RESUMEN

BACKGROUND/OBJECTIVE: Diagnostic tools such as dermoscopy, sequential digital dermoscopy imaging (SDDI), total body photography (TBP) and automated diagnostic tools are available to assist in early melanoma diagnosis. The use, accessibility and barriers of dermoscopy have been well studied; however, there are few similar studies regarding SDDI, TBP and automated diagnostic tools. We aim to understand the use of these diagnostic aids amongst Australian general practitioners (GPs) and dermatologists. METHODS: Between June 2019 and January 2020, GPs and dermatologists across Australia were invited to participate in an online survey. Surveys were distributed through GP and dermatology organisations. RESULTS: A total of 227 survey responses were received, 175 from GPs and 52 from dermatologists. Amongst GPs, 44.6% worked in a skin cancer clinic. Dermoscopy was used at least occasionally by 98.9% of all GPs. SDDI was used by 93.6% of skin cancer GPs, 80.8% of dermatologists and 45.3% of generalist GPs. TBP was used or recommended by 77.1% of generalist GPs, 82.3% of skin cancer GPs and 86.5% of dermatologists. The most common barriers to the use of TBP were cost, limited accessibility, poor patient compliance, and time required for both patients and doctors. Very few clinicians reported using automated diagnostic tools. There was an interest in future diagnostic aids for melanoma in 88% of GPs and dermatologists. CONCLUSION: Dermoscopy, SDDI and TBP were commonly used by responding Australian skin cancer GPs and dermatologists in this survey. Automated diagnostic tools were not reported to be used routinely. Several barriers were identified for use of TBP.


Asunto(s)
Dermoscopía/estadística & datos numéricos , Melanoma/diagnóstico , Pautas de la Práctica en Medicina/normas , Neoplasias Cutáneas/diagnóstico , Australia , Dermatólogos , Humanos , Examen Físico/normas
20.
Australas J Dermatol ; 62(2): 168-176, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33277693

RESUMEN

BACKGROUND/OBJECTIVES: In melanoma management, sentinel lymph node biopsy (SLNB) is used to stage patients and to indicate prognosis. More recently, it has been used to select patients for adjuvant therapy. This study aimed to report knowledge of and attitudes towards SLNB for patients with melanoma among Australian dermatologists. METHODS: Mixed methods study using cross-sectional questionnaires (n = 88) and semi-structured interviews (n = 13), May-September 2019. RESULTS: Of the dermatologists surveyed, 56% thought SLNB had an important role in melanoma management, 26% were unsure and 18% thought SLNB unimportant. Of the 92% who would discuss SLNB with their patients, the main stated value of SLNB was for assessing eligibility for adjuvant therapies (79%); only 60% indicated SLNB was of value for providing prognostic information, and just over half (53%) thought it could improve staging. Interview data indicated that attitudes towards SLNB are shifting among dermatologists, driven by data from landmark clinical trials and the influence of professional networks. Accordingly, interviewees adopted one of three positions in relation to SLNB: (a) believed in utility of SLNB and adhered to the guidelines; (b) were unconvinced about utility of SLNB but adhered to the guidelines; and (c) were unconvinced about utility of SLNB and did not adhere to the guidelines. CONCLUSION: Although most of the dermatologists surveyed were familiar with and follow the SLNB recommendations, some disagreement with and distrust of the recommendations was evident. Greater acceptance of the SLNB recommendations appeared to be driven by the improved outcomes demonstrated in stage III patients receiving adjuvant systemic therapy.


Asunto(s)
Actitud del Personal de Salud , Competencia Clínica , Dermatólogos , Melanoma/patología , Biopsia del Ganglio Linfático Centinela , Neoplasias Cutáneas/patología , Adulto , Anciano , Australia , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Encuestas y Cuestionarios
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