Improving First Trimester Screening By Combining Rapid MF-PCR Of PAP Smears With Nuchal Ultrasound Scanning
Funder
National Health and Medical Research Council
Funding Amount
$206,809.00
Summary
Genetic defects are the major cause of embryonic and foetal death as well as being responsible for a large proportion of childhood disabilities. Although many are detected by the ~50,000 prenatal tests currently performed annually in Australia, these methods are only offered to high risk mothers because they are invasive (~1% risk of miscarriage), and-or expensive. A rapid, low cost, less invasive and safer alternative prenatal diagnostic method such as PAP smears that could be offered to all mo ....Genetic defects are the major cause of embryonic and foetal death as well as being responsible for a large proportion of childhood disabilities. Although many are detected by the ~50,000 prenatal tests currently performed annually in Australia, these methods are only offered to high risk mothers because they are invasive (~1% risk of miscarriage), and-or expensive. A rapid, low cost, less invasive and safer alternative prenatal diagnostic method such as PAP smears that could be offered to all mothers regardless of risk is therefore of immense value both to mothers and to the health care system. This proposal enhances first trimester screening by improving prenatal diagnosis from PAP smears. Although normally taken to detect cancer, these smears contain significant numbers of foetal cells. We will investigate: the best way and time to obtain these cells, the best way to remove the cells from any contamination, improvements in genetic diagnosis of these cells using a technique known as MF-PCR which is rapidly revolutionising conventional prenatal diagnosis. By automating these procedures, they will become less expensive and more accessible to all mothers regardless of risk. We will also compare these procedures with alternative first trimester screening techniques such as nuchal translucency to determine the value of both tests singly and in combination. This research should provide a safe, reliable and accurate method allowing inexpensive prenatal screening to be available for all pregnancies. General screening programmes using this new test, particularly if combined with nuchal translucency programmes, would result in a dramatic reduction in affected babies with major implications to families and the health care system.Read moreRead less
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.
A Novel Multi-gene Marker Blood Test To Increase Community Participation In Colorectal Cancer Screening.
Funder
National Health and Medical Research Council
Funding Amount
$581,116.00
Summary
Bowel cancer screening programs are vital for early detection and prevention, but participation with the traditional faecal testing mode is less than 35%. Reasons include dislike or unsuitability for faecal testing. These barriers could be overcome and participation could increase using a different sampling mode for the screening test. We have developed a blood test for bowel cancer and will investigate if people who will not screen with the stool test will screen with the blood test instead.
Centre For Research Excellence In Cervical Cancer Control (C4)
Funder
National Health and Medical Research Council
Funding Amount
$2,486,383.00
Summary
Cervical cancer remains common globally despite over 50 years of Pap testing. Australia led the world in HPV vaccination and in 2017 will be the first to deliver a national screening program based on HPV testing. Our CRE, led by cervical cancer prevention experts at CCNSW,VCS, and Kirby, will marry cross-disciplinary research and evaluation of HPV vaccination and screening to provide solid evidence about these new approaches with a view to ultimately reducing the global burden of this cancer.
Population Based Genetic Testing For High-risk Breast And Ovarian Cancer Predisposition Genes
Funder
National Health and Medical Research Council
Funding Amount
$1,112,985.00
Summary
Inherited mutations in BRCA1 and BRCA2 confer a very high risk of breast and ovarian cancer. Importantly, once carriers are identified, effective strategies are available that can dramatically reduce the risk of cancer. We will perform genetic testing of a healthy western population to identify breast/ovarian cancer genes before the women develop cancer. Population-based screening could significantly reduce the incidence of these diseases.