Genetic testing Archives - Wiser Healthcare

‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives – Didu S. Kariyawasam et al.

Lucia Marcello2024-04-05T14:50:00+11:00Ethical considerations, Genetic testing, Genomics, Health policy, Publications, Risk, Screening|

Newborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively discussing the introduction of genomic assays into newborn screening programs. While adding genomic testing to Australia’s newborn [...]

A case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic – Sophie Hespe et al.

Lucia Marcello2024-02-11T14:45:54+11:00Cardiovascular disease, Genetic testing, Inherited Heart Disease, Publications|

We report a series of patients attending a specialized cardiac genetic clinic with a putative loss-of-function FLNCtv. The phenotype is characterized by left-sided ACM in the presence of fibro-fatty infiltration of the myocardium with high risk of severe cardiac outcomes including end-stage heart failure and SCD. This [...]

Direct-to-consumer tests advertised online in Australia and their implications for medical overuse: systematic online review and a typology of clinical utility – Patti Shih et al.

Lucia Marcello2024-02-11T14:15:02+11:00Genetic testing, Low-value care, Overdiagnosis, Overtesting, Overtreatment, Overuse, Publications|

The growing number of Direct To Consumer (DTC) tests available for direct purchase online in Australia purport to empower consumers with choice and convenience of access. The categorisation of clinical utility developed in this study shows the majority of currently available products lack clear benefits [...]

Long-term cost-effectiveness of a melanoma prevention program using genomic risk information compared with standard prevention advice in Australia – Chi Kin Law et al.

Lucia Marcello2024-02-09T15:50:06+11:00Cancer, Genetic testing, Melanoma, Precision medicine, Publications|

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.

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions – Katherine S. Josephs et al.

Lucia Marcello2023-12-04T13:42:54+11:00Cardiovascular disease, Genetic testing, Genomics, Inherited Heart Disease, Publications|

As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings. We analyse evidence for inheritance patterns, allelic [...]

Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management – Fei Yang et al.

Lucia Marcello2023-12-04T12:57:26+11:00Genetic testing, Prescribing, Publications, Treatment, Women's health|

In clinical practice, the co-existence of endometriosis and gastrointestinal symptoms is often observed. Using large-scale datasets, we report a genetic correlation between endometriosis and irritable bowel syndrome (IBS), peptic ulcer disease (PUD), gastro-esophageal reflux disease (GORD), and a combined GORD/PUD medicated (GPM) phenotype. Mendelian randomization analyses [...]

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death – Emma S. Singer et al.

Lucia Marcello2023-12-04T12:43:18+11:00Cardiovascular disease, Genetic testing, Inherited Heart Disease, Publications|

There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outcomes. We performed burden testing of rare splice-disrupting variants in people with [...]

Gene therapy in cardiology: is a cure for hypertrophic cardiomyopathy on the horizon? –

Lucia Marcello2023-12-01T15:07:20+11:00Cardiovascular disease, Genetic testing, Hypertension, Precision medicine, Publications, Risk, Treatment|

Hypertrophic cardiomyopathy (HCM) is the commonest genetic cardiomyopathy world-wide, affecting approximately 1 in 500 individuals. Current therapeutic interventions comprise lifestyle optimisation, medications, septal reduction therapies and rarely cardiac transplantation. Advances in our understanding of disease-causing genetic variants in HCM and their associated molecular mechanisms have [...]

2023 ESC Guidelines for the management of cardiomyopathies – Elena Arbelo et al.

Lucia Marcello2023-12-01T09:39:50+11:00Cardiovascular disease, Clinical guidelines, Genetic testing, Publications, Risk|

The objective of this European Society of Cardiology (ESC) Guideline is to help healthcare professionals diagnose and manage patients with cardiomyopathies according to the best available evidence. Uniquely for relatively common cardiovascular diseases, there are very few randomized controlled clinical trials in patients with cardiomyopathies. [...]

Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy – Katherine Chiswell et al

Lucia Marcello2023-06-28T13:21:23+10:00Cardiovascular disease, Diagnostic system, Genetic testing, Publications, Risk|

We have come a long way, from referring to HCM as a “tumour of the heart” to understanding the complex nature of this genetic disorder which targets the most basic functional unit of the heart, i.e. the sarcomere. Genetic testing on HCM is now common [...]

Genetic testing

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