Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health. Twin Res Hum Genet.
Abstract In 2020, the Human Genetics Society of Australasia released its Position Statement on Predictive and Presymptomatic Genetic Testing in Adults and Children. This Position Statement synthesizes the major practical, psychosocial and ethical considerations associated with presymptomatic and predictive genetic testing in adults who have the capacity to make a decision, children and young people who lack capacity and adults living with reduced or fluctuating capacity. Recommendations include that predictive testing in adults, young people and children should only be offered with pretest genetic counseling and the option of posttest genetic counseling. An individual considering (for themselves or on [...]
MC1R ‘r’ allele does not increase melanoma risk in MITF E318K carriers.
Abstract Background: Population-wide screening for melanoma is not cost-effective, but genetic characterisation could facilitate risk stratification and targeted screening. Common MC1R red hair colour (RHC) variants and MITF E318K separately confer moderate melanoma susceptibility, but their interactive effects are relatively unexplored. Objectives: Evaluate whether MC1R genotypes differentially affect melanoma risk in MITF E318K+ versus E318K- individuals. Methods: Melanoma affection status 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 [...]
Association of Germline Variants in Telomere Maintenance Genes (POT1, TERF2IP, ACD, TERT) with Spitzoid Morphology in Familial Melanoma: A Multi-Center Case Series.
Abstract Background: Spitzoid morphology in familial melanoma has been associated with germline variants in POT1, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation. Objective: To assess if familial melanoma cases associated with germline variants in TMG (POT1, ACD, TERF2IP, and TERT) commonly exhibit spitzoid morphology. Methods: In this case series, melanomas were classified as having spitzoid morphology if at least 3 of 4 dermatopathologists reported this finding in ≥25% of tumor cells. Logistic regression was used to calculate odds ratios (OR) of spitzoid morphology compared to familial melanomas from unmatched noncarriers that were [...]
Views of the Australian public on the delivery of risk-stratified cancer screening in the population: a qualitative study.
Abstract Objective and importance of study: Risk-stratified approaches to cancer screening aim to provide tailored risk advice to individuals, rather than the mostly one-size-fits-all approach designed for the average person that is currently used in Australia. Stratified cancer screening has the potential to increase the benefits and reduce the harms of screening. Initial risk assessment is a crucial first step for screening programs that use risk stratification. We report findings from a qualitative study exploring the views of the Australian public on how to best deliver risk-stratified cancer screening in the population to help inform future implementation. Study type: Qualitative interview [...]
Diagnostic biopsies of suspected skin cancer in general practice from 2010 to 2017 in Victoria, Australia
Owing to the large number of skin cancers being managed in Australian general practice,1 it is important to document the trends and preferences of general practitioners’ (GPs) diagnostic approach to suspicious skin lesions, to inform guidelines for diagnosis and ensure safe and cost-effective treatment in general practice. Read Full Paper
Perspectives and Experiences of Patient-Led Melanoma Surveillance Using Digital Technologies From Clinicians Involved in the MEL-SELF Pilot Randomized Controlled Trial: Qualitative Interview Study
Abstract Background: The growing number of melanoma patients who need long-term surveillance increasingly exceeds the capacity of the dermatology workforce, particularly outside of metropolitan areas. Digital technologies that enable patients to perform skin self-examination and send dermoscopic images of lesions of concern to a dermatologist (mobile teledermoscopy) are a potential solution. If these technologies and the remote delivery of melanoma surveillance are to be incorporated into routine clinical practice, they need to be accepted by clinicians providing melanoma care, such as dermatologists and general practitioners (GPs). Objective: This study aimed to explore perceptions of potential benefits and harms of [...]
Motivations and Barriers to Participation in a Randomized Trial on Melanoma Genomic Risk: A Mixed-Methods Analysis.
Abstract The evolution of polygenic scores for use in for disease prevention and control compels the development of guidelines to optimize their effectiveness and promote equitable use. Understanding the motivations and barriers to participation in genomics research can assist in drafting these standards. We investigated these in a community-based randomized controlled trial that examined the health behavioral impact of receiving personalized melanoma genomic risk information. We examined participant responses in a baseline questionnaire and conducted interviews post-trial participation. Motivations differed in two ways: (1) by gender, with those identifying as women placing greater importance on learning about their personal [...]
Factors influencing acceptance, adoption and adherence to sentinel node biopsy recommendations in the Australian Melanoma Management Guidelines: a qualitative study using an implementation science framework.
Abstract Background: Sentinel node biopsy (SN biopsy) is a surgical procedure used to accurately stage patients with primary melanoma at high risk of recurrence. Although Australian Melanoma Management Guidelines recommend SN biopsy be considered in patients with melanomas > 1 mm thick, SN biopsy rates in Australia are reportedly low. Our objective was to identify factors impacting the acceptance, adoption and adherence to the Australian SN biopsy guideline recommendations. Methods: Opinions of Australian key informants including clinicians, representatives from melanoma education and training providers, professional associations and colleges, and melanoma advocacy organisations were collected through semi-structured interviews (n = [...]