Suchergebnisse

<b><i>Aim:</i></b> To explore the potential emotional and behavioural impact of providing information on personalised genomic risk to the public, using melanoma as an example, to aid research translation. <b><i>Methods:</i></b> We conducted four focus groups in which 34 participants were presented with a hypothetical scenario of an individual's lifetime genomic risk of melanoma (using the term 'genetic risk'). We asked about understanding of genetic risk, who would choose to receive this risk information, potential emotional and behavioural impacts, and other concerns or potential benefits. Data were analysed thematically. <b><i>Results:</i></b> Participants thought this risk information could potentially motivate preventive behaviours such as sun protection and related it to screening for other diseases including breast cancer. Factors identified as influencing the decision to receive genetic risk information included education level, children, age and gender. Participants identified potential negative impacts on the recipient such as anxiety and worry, and proposed that this could be mitigated by providing additional explanatory and prevention information, and contact details of a health professional for further discussion. Participants' concerns included workplace and insurance discrimination. <b><i>Conclusion:</i></b> Participants recognised the potential for both positive and negative emotional and behavioural impacts related to receiving information on the personalised genomic risk of melanoma.

AbstractConsiderable 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.

INTRODUCTION: Sentinel lymph node biopsy (SLNB) is a diagnostic procedure developed in the 1990s. It is currently used to stage patients with primary cutaneous melanoma, provide prognostic information and guide management. The Australian Clinical Practice Guidelines state that SLNB should be considered for patients with cutaneous melanoma >1 mm in thickness (or >0.8 mm with high-risk pathology features). Until recently, sentinel lymph node (SLN) status was used to identify patients who might benefit from a completion lymph node dissection, a procedure that is no longer routinely recommended. SLN status is now also being used to identify patients who might benefit from systemic adjuvant therapies such as anti-programmed cell death 1 (PD1) checkpoint inhibitor immunotherapy or BRAF-directed molecular targeted therapy, treatments that have significantly improved relapse-free survival for patients with resected stage III melanoma and improved overall survival of patients with unresectable stage III and stage IV melanoma. Australian and international data indicate that approximately half of eligible patients receive an SLNB. METHODS AND ANALYSIS: This mixed-methods study seeks to understand the structural, contextual and cultural factors affecting implementation of the SLNB guidelines. Data collection will include: (1) cross-sectional questionnaires and semistructured interviews with general practitioners and dermatologists; (2) semistructured interviews with other healthcare professionals involved in the diagnosis and early definitive care of melanoma patients and key stakeholders including researchers, representatives of professional colleges, training organisations and consumer melanoma groups; and (3) documentary analysis of documents from government, health services and non-government organisations. Descriptive analyses and multivariable regression models will be used to examine factors related to SLNB practices and attitudes. Qualitative data will be analysed using thematic analysis. ETHICS AND ...

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). 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Fondo Europeo de Desarrollo Regional (FEDER), Union Europea, Una manera de hacer Europa ; Catalan Government, Spain ; Fundacio La Marato de TV3, Catalonia, Spain ; Italian Association for Cancer research (AIRC) ; Italian Ministry of Health ; Programme Hospitalier de Recherche Clinique ; Institut National du Cancer (INCA) ; Comision Honoraria de Lucha Contra el Cancer, Montevideo, Uruguay ; Dutch Cancer Society ; CONACYT, Mexico ; NHMRC ; Cancer Institute NSW ; National Institutes of Health ; Texas A&M Hlth Sci Ctr, Dept Epidemiol & Biostat, College Stn, TX USA ; Univ Penn, Dept Biostat & Epidemiol, Philadelphia, PA USA ; Natl Canc Inst, Div Canc Epidemiol & Genet, Human Genet Program, Bethesda, MD USA ; Hop Cochin, AP HP, Paris, France ; Univ Paris 05, Paris, France ; Tel Aviv Univ, Sackler Fac Med, Sheba Med Ctr, Dept Dermatol, Tel Aviv, Israel ; Leiden Univ, Med Ctr, Dept Dermatol, Leiden, Netherlands ; St James Univ Hosp, Canc Res UK Clin Ctr Leeds, Leeds Inst Canc & Pathol, Sect Epidemiol & Biostat, Leeds, W Yorkshire, England ; 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National Health and Medical Research Council of Australia: NHMRC 107359 ; National Health and Medical Research Council of Australia: 402761 ; National Health and Medical Research Council of Australia: 633004 ; National Health and Medical Research Council of Australia: 566946 ; National Health and Medical Research Council of Australia: 211172 ; Cancer Council New South Wales: 77/00 ; Cancer Council New South Wales: 06/10 ; Cancer Institute New South Wales: CINSW 05/TPG/1-01 ; |Cancer Institute New South Wales: 10/TPG/1-02 ; Cancer Council Queensland: 371 ; FAPESP: 2007/04313-2 ; NCI: CA88363 ; European Research Council: ERC-2011-294576 ; Fondo de Investigaciones Sanitarias, Spain: P.I. 09/01393 ; Fondo de Investigaciones Sanitarias, Spain: P.I. 12/ 00840 ; Catalan Government, Spain: AGAUR 2009 SGR 1337 ; Catalan Government, Spain: AGAUR 2014_SGR_603 ; Fundacio La Marato de TV3, Catalonia, Spain: 201331-30 ; Italian Association for Cancer research (AIRC): 15460 ; Programme Hospitalier de Recherche Clinique: PHRC-AOM-07-195 ; 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