Nationwide, Couple-Based Genetic Carrier Screening.

Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.

Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Purpose: Congenital heart disease (CHD) affects up to 1% of live births. However, a genetic diagnosis is not made in most cases. The purpose of this study was to assess the outcomes of genome sequencing (GS) of a heterogeneous cohort of CHD patients.

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Background: Congenital heart disease (CHD)-structural abnormalities of the heart that arise during embryonic development-is the most common inborn malformation, affecting ≤1% of the population. However, currently, only a minority of cases can be explained by genetic abnormalities. The goal of this study was to identify disease-causal genetic variants in 30 families affected by CHD.

Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.

Background: Circulating microRNAs (miRNAs) are emerging as novel biomarkers for detecting cardiovascular diseases. In this study, we aimed to investigate the usefulness of miRNAs as biomarkers in diagnosing and predicting children with congenital heart defects (CHD), particularly in the context of multiple subtypes of CHD.

Methods: We recruited 26 families, each having a child with CHD and parents who do not have any cardiovascular disorder.

Compliance with professional guidelines with reference to familial cancer services.

Objective: Professional guidelines define the risk categorisation of patients for a genetic predisposition to cancer based on family history. These guidelines inform the appropriate referral of patients to specialist familial cancer services. Our study aimed to determine the quality of referral letters from general practitioners and specialists to genetic services for breast, ovarian and colorectal cancers, and their compliance with relevant professional guidelines.