Tatiane Yanes
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View article: A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity
A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity Open
Introduction Genomic testing is essential to diagnosing and treating paediatric inborn errors of immunity (IEIs). A model-of-care (MoC) was established at the Queensland Children’s Hospital to support the delivery of IEI genomic testing. W…
View article: Utility of Germline, Somatic and <scp>ctDNA</scp> Testing in Adults With Cancer
Utility of Germline, Somatic and <span>ctDNA</span> Testing in Adults With Cancer Open
Background and Aim Historical genetic sequencing of specific cancer variants has been superseded by comprehensive genomic profiling (CGP). This narrative review aimed to capture current international evidence on the clinical utility of CGP…
View article: “It’s a Godsend”: Parental experiences of genomic testing for paediatric inborn errors of immunity
“It’s a Godsend”: Parental experiences of genomic testing for paediatric inborn errors of immunity Open
View article: An exploration of healthcare providers’ learning needs and strategies for engagement in Polygenic Risk education
An exploration of healthcare providers’ learning needs and strategies for engagement in Polygenic Risk education Open
Polygenic risk scores (PRS) provide an estimate of the genetic contribution to health conditions. Despite increasing clinical translation, healthcare providers (HPs) report a lack of PRS knowledge, representing a major barrier to safe and …
View article: “<i>Being proactive</i>”: A qualitative study of South Asian Australians perspectives of cardiovascular disease and genomic testing
“<i>Being proactive</i>”: A qualitative study of South Asian Australians perspectives of cardiovascular disease and genomic testing Open
Objectives Explore the health beliefs of South Asian Australians related to cardiovascular disease (CVD) and genomic testing for CVD Design, setting, participants Qualitative study using focus groups conducted between April to August 2023.…
View article: “There’s no representation”: A qualitative study of attitudes and motivations towards genomic research among South Asian Australians
“There’s no representation”: A qualitative study of attitudes and motivations towards genomic research among South Asian Australians Open
People of South Asian ancestry represent approximately up around 25% of the world’s population, yet constitute less than 2% of global genomic databases, limiting our ability to provide equitable genomic healthcare for this population. The …
View article: “It’s a Godsend”: Parental Experiences of Genomic Testing for Paediatric Inborn Errors of Immunity
“It’s a Godsend”: Parental Experiences of Genomic Testing for Paediatric Inborn Errors of Immunity Open
Genomic testing has become essential to diagnosing and managing paediatric inborn errors of immunity (IEI), necessitating the development of mainstream models of care to facilitate optimal delivery of testing. However, little is known abou…
View article: Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors
Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors Open
View article: Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact
Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact Open
Finite clinical genetics services combined with expanding genomic testing have driven development of mainstreaming models‐of‐care for genomic testing: specifically genetic counselor embedded (GEM) and upskilled‐clinician (UPC) models. To d…
View article: Using polygenic risk modification to improve breast cancer prevention: study protocol for the PRiMo multicentre randomised controlled trial
Using polygenic risk modification to improve breast cancer prevention: study protocol for the PRiMo multicentre randomised controlled trial Open
Introduction Established personal and familial risk factors contribute collectively to a woman’s risk of breast or ovarian cancer. Existing clinical services offer genetic testing for pathogenic variants in high-risk genes to investigate t…
View article: Narrative therapy and family therapy in genetic counseling: A scoping review
Narrative therapy and family therapy in genetic counseling: A scoping review Open
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 counselin…
View article: Future implications of polygenic risk scores for life insurance underwriting
Future implications of polygenic risk scores for life insurance underwriting Open
View article: Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance
Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance Open
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 onlin…
View article: Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional survey
Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional survey Open
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 factor…
View article: The <i>MC1R</i> r allele does not increase melanoma risk in <i>MITF</i> E318K carriers
The <i>MC1R</i> r allele does not increase melanoma risk in <i>MITF</i> E318K carriers Open
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 Mic…
View article: Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity Open
Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management decisions and alters clinical outcomes, through early use of targeted and curative therapies. The increasing demand for genetic services has resulted i…
View article: Development and evaluation of a novel educational program for providers on the use of polygenic risk scores
Development and evaluation of a novel educational program for providers on the use of polygenic risk scores Open
Background Polygenic risk scores (PRS) for breast and ovarian cancer risk are increasingly available to the public through clinical research and commercial genetic testing companies. Healthcare providers frequently report limited knowledge…
View article: Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health
Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health Open
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 ma…
View article: Parental Uncertainty About a Child’s Health Scale (PUCHS): Development and Validation of a Novel Measure
Parental Uncertainty About a Child’s Health Scale (PUCHS): Development and Validation of a Novel Measure Open
Importance Understanding perceptions of uncertainty among parents of children with chronic conditions—and health care providers’ opportunities to help parents effectively cope—is limited by existing measures. Objective To develop a novel, …
View article: Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors
Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors Open
Polygenic scores (PGS) are primed for use in personalized risk assessments for common, complex conditions and population health screening. Although there is growing evidence supporting the clinical validity of these scores in certain disea…
View article: Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma
Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma Open
Introduction Genetic testing for hereditary cancers can improve long-term health outcomes through identifying high-risk individuals and facilitating targeted prevention and screening/surveillance. The rising demand for genetic testing exce…
View article: Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity Open
Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management decisions and alters clinical outcomes, through early use of targeted and curative therapies. The increasing demand on genetic services has resulted in…
View article: Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma
Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma Open
Background: 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 regardi…
View article: The Future of Precision Prevention for Advanced Melanoma
The Future of Precision Prevention for Advanced Melanoma Open
Precision prevention of advanced melanoma is fast becoming a realistic prospect, with personalized, holistic risk stratification allowing patients to be directed to an appropriate level of surveillance, ranging from skin self-examinations …
View article: Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior Open
View article: Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk
Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk Open
Hereditary breast cancer is associated with known genetic changes: either variants that affect function in a few rare genes or an ever‐increasing number of common genomic risk variants, which combine to produce a cumulative effect, known a…
View article: Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross‐sectional survey of health professionals
Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross‐sectional survey of health professionals Open
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 d…
View article: Author response for "Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: a cross‐sectional survey of health professionals"
Author response for "Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: a cross‐sectional survey of health professionals" Open
View article: Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals
Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals Open
Background Recent genome-wide association meta-analysis for melanoma doubled the number of previously identified variants. We assessed the performance of an updated polygenic risk score (PRS) in a population of older individuals, where mel…
View article: Breast cancer polygenic risk scores: A 12-month prospective study of patient reported outcomes and risk management behavior
Breast cancer polygenic risk scores: A 12-month prospective study of patient reported outcomes and risk management behavior Open
Purpose: Polygenic risk scores (PRS) for breast cancer risk have emerged as a potential tool for informing disease risk management. However, little is known about women’s responses to receiving this information. This study aimed to prospec…