Publications by authors named "Courtney Wallingford"

Integrated risk scores (polygenic and non-genetic risk factors) can facilitate risk-stratification, to inform targeted melanoma screening. This mixed-methods pilot study assessed satisfaction, attitudes, and psychosocial impact of a protocol for communicating integrated risk for melanoma using questionnaires (baseline and 1-month post-results) and semi-structured interviews. Affected and unaffected adults enroled in ongoing melanoma studies were recruited to receive their integrated risk booklets and attend a genetic counselling appointment.

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Despite affecting a small portion of the population, rare conditions have a significant impact, collectively affecting around 300 million people worldwide. Historically, early diagnosis has been impeded by failure to recognize rare conditions and order/refer for appropriate genomic testing. The advancements in genome sequencing offer a more agnostic and accelerated approach to the identification and diagnosis of rare disorders, potentially improving health outcomes, reducing the impact of disability, and reducing financial and psychological burdens on families.

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Genetic counseling facilitates psychological and social adaptation in clients and families. Two psychotherapeutic approaches, narrative and family therapy foster client adaptation to adverse situations and may enhance the genetic counseling process. This scoping review aimed to describe the applications of narrative therapy and family therapy in genetic counseling, and to document the actual and perceived value of these approaches in a genetic counseling setting.

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Fear of insurance discrimination can inhibit genetic research participation. In 2019, an industry-led partial moratorium on using genetic results in Australian life insurance underwriting was introduced. This mixed-methods study used online surveys (n = 59 participants) and semi-structured interviews (n = 22 participants) to capture researchers' perceptions about the moratorium.

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Article Synopsis
  • * In low incidence countries, genetic testing may be recommended for families with two first-degree relatives diagnosed with melanoma, while higher incidence areas require three to four affected family members for testing.
  • * Increased use of multi-gene panels can enhance diagnostic outcomes, and dermatologists, with proper training, could help streamline genetic testing alongside pre- and post-test consultations, leading to better sun protection and screening habits among mutation carriers.
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Diagnostic genetic testing and non-invasive prenatal testing (NIPT) for conditions associated with disability are becoming increasingly available to consumers. This genetic information can be used in the disability setting to inform factors such as prognosis, management, and reproductive decision-making. Genetic counselors (GCs) play an important role in the provision of genetic testing and NIPT, and their attitudes toward disability can influence how genetic information is communicated and shape patients' responses.

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MITF E318K moderates melanoma risk. Only five MITF E318K homozygous cases have been reported to date, one in association with melanoma. This novel report uses 3D total-body-photography (TBP) to describe the dermatological phenotype of a homozygous MITF E318K individual.

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Purpose: This study aimed to develop an online educational program for using polygenic risk score (PRS) for breast and ovarian cancer risk assessments and to evaluate the impact on the attitudes, confidence, knowledge, and preparedness of genetic health care providers (GHPs).

Methods: The educational program comprises an online module that covers the theoretical aspects of PRS and a facilitated virtual workshop with prerecorded role-plays and case discussions. Data were collected in pre- and posteducation surveys.

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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.

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Melanoma genetic testing reportedly increases preventative behaviour without causing psychological harm. Genetic testing for familial melanoma risk is now available, yet little is known about dermatologists' perceptions regarding the utility of testing and genetic testing ordering behaviours. To survey Australasian Dermatologists on the perceived utility of genetic testing, current use in practice, as well as their confidence and preferences for the delivery of genomics education.

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Background: Consumer engagement is increasingly recognized as an instrumental component of health research, with many institutions and international bodies mandating it as part of the research and funding process. Given an increasing utilization of consumer engagement in health research, it is critical to identify the literature which support its value and tools that capture successful outcomes. To develop an overview of the literature, we conducted an umbrella scoping review exploring important outcomes of consumer engagement in health research combined with a scoping review of relevant frameworks.

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Purpose: This study aimed to systematically review current models for communicating polygenic scores (PGS) and psycho-behavioral outcomes of receiving PGSs.

Methods: Original research on communicating PGSs and reporting on psycho-behavioral outcomes was included. Search terms were applied to 5 databases and were limited by date (2009-2021).

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Oculocutaneous albinism (OCA) is a rare condition characterized by hypopigmentation. A female proband and her sister, both with primary amelanotic/hypopigmented melanoma, underwent three-dimensional total-body photography and dermoscopy. Both sisters had exome sequencing along with their brother, who had OCA but no history of melanoma.

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Human research ethics committees (HRECs) are evaluating increasing quantities of genomic research applications with complex ethical considerations. Genomic confidence is reportedly low amongst many non-genetics-experts; however, no studies have evaluated genomic confidence levels in HREC members specifically. This study used online surveys to explore genomic confidence levels, predictors of confidence, and genomics resource needs of members from 185 HRECs across Australia.

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Article Synopsis
  • Polygenic risk scores (PRS) are increasingly used in clinical settings to assess cancer risk, but there's limited understanding of health professionals' familiarity and attitudes towards PRS.
  • A survey conducted among health professionals involved in cancer risk assessment revealed that only a small percentage had experience with ordering or discussing PRS with patients, with many feeling unprepared to interpret results.
  • The survey results indicate a significant expectation for polygenic testing to impact future patient care, particularly involving general practitioners with support from genetic professionals, highlighting a need for better educational resources.
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As genetic testing becomes increasingly utilized in health care, consumer awareness and understanding is critical. Both are reported to be low in Australia, though there are limited studies to date. A consumer survey assessed perceived knowledge, awareness and attitudes toward genetic medicine, prior to consumers' genomics forums in Queensland in 2018 and 2019.

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Article Synopsis
  • - Parents of children diagnosed with Rubinstein-Taybi syndrome (RTS) shared their experiences through interviews, revealing the emotional challenges linked to receiving a diagnosis for a rare genetic condition.
  • - The timing of the diagnosis was crucial; parents felt that the best time for a diagnosis should occur after initial bonding but before significant parental concerns arise, allowing for emotional balance.
  • - While parents sought a diagnosis to alleviate uncertainty, they found that new concerns emerged after diagnosis, emphasizing the importance of a label in improving social acceptance and access to necessary resources.
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