Models And Quality Of Genetic Health Services For Aboriginal And Torres Strait Islander People
Funder
National Health and Medical Research Council
Funding Amount
$351,240.00
Summary
Genetic health services are playing an increasingly important role in improving human health. Aboriginal people are underrepresented in such services despite a higher prevalence of a number of genetically determined conditions and evidence of willingness to access these services. Our grant will inform the development of effective models of genetic health service provision for Aboriginal people. This will improve health equity both now and in the future.
Preconception Carrier Screening: Providing Genetically At Risk Families With A Chance To Have Healthy Children
Funder
National Health and Medical Research Council
Funding Amount
$857,443.00
Summary
Current preconception carrier screening is not widely accessible and has no public funding. We will develop a model of the social and economic impacts of genetic disorders on families and government and the cost of a range of genomic technologies to determine the social and economic benefits that could be realised by the introduction of accessible and affordable preconception carrier screening using existing technologies: gene panels and advances in whole genome sequencing (WGS).
Targeting At Risk Relatives Of Glaucoma Patients For Early Diagnosis And Treatment (TARRGET)
Funder
National Health and Medical Research Council
Funding Amount
$595,375.00
Summary
Glaucoma is the second leading cause of blindness in Australia but early detection and treatment can prevent blindness. We will recruit patients with advanced glaucoma from an Australia wide registry and refer their close relatives to have an eye exam and genetic testing to see if they are at risk of glaucoma. We will evaluate how a coordinator can improve the uptake of this screening program referring people to local eye care providers and in rural WA providing screening in 16 remote locations.
Health And Fertility Of Young Men Conceived Using Intra-cytoplasmic Sperm Injection
Funder
National Health and Medical Research Council
Funding Amount
$362,570.00
Summary
The injection of a single sperm into the egg (ICSI) has been the main IVF treatment for men with poor sperm quality since 1993 but is now often used for other types of infertility. Concern has been raised about the health of the children. We will approach >800 parents and their adult sons conceived using ICSI and will assess his general health and development, and fertility. This work will improve patient counselling and practice guidelines, and direct research into the safety of ICSI.