Genomics

‘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.

2024-04-05T14:50:00+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 [...]

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.

2023-12-04T13:42:54+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 [...]

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