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CRISPR

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Published on: August 17, 2022

The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia-A Commentary.

Sarah Long¹, Deborah Schofield², Josh Kraindler²

¹Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.

The Australian & New Zealand Journal of Obstetrics & Gynaecology

|March 24, 2025

Summary

This summary is machine-generated.

Prenatal genomic sequencing offers higher diagnostic rates for fetal structural anomalies (FSA) than traditional methods. Implementing this advanced testing requires addressing funding, service availability, and specialist access barriers across Australia.

Keywords:

fetus genetic counselling genetic testing pregnancy prenatal diagnosis

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics
Obstetrics
Medical Implementation Science

Background:

Prenatal genomic sequencing significantly improves diagnostic rates for fetal structural anomalies (FSA) compared to karyotype and microarray.
Current availability of prenatal genomic testing is inconsistent across Australia.
The PreGen translational research program investigated barriers to widespread implementation.

Purpose of the Study:

To identify key barriers hindering the uniform implementation of prenatal genomic sequencing in Australia.
To propose solutions for improving equitable access and timely diagnosis of fetal structural anomalies.

Main Methods:

The PreGen program identified barriers through a 5-year translational research initiative.
Analysis focused on factors including funding, genomic testing availability, and access to specialist services.

Main Results:

Significant barriers identified include lack of funding, limited genomic testing availability, restricted access to termination of pregnancy services, and insufficient specialist genomic centers.
A federal item number for prenatal genomic testing is proposed as a critical step.

Conclusions:

Establishing a federal item number for prenatal genomic testing is crucial for equitable access and timely diagnosis during pregnancy.
This would reduce reliance on less effective diagnostic methods and enhance personalized patient management and family support.