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Women and Newborn Health Service

Health Professionals

 

King Edward Memorial Hospital

Genetics

Australasian Colorectal Cancer Family Study (ACCFS)

kConFab Research Project

Consanguinity Study

Genetic Epidemiological Study of Congenital Deafness

Parent’s Willingness to Pay for Genetic Testing for Congenital Deafness

Australasian Colorectal Cancer Family Study (ACCFS)

  • Funded by The National Institutes of Health USA
Principal Investigators:
Professor John Hopper,
Dept of Public Health,
Victoria.
Local Investigator:
Assoc. Prof Jack Goldblatt,
GSWA.
  Jill George, RN

This study is a resource creation project for the study of familial colorectal cancer other than that occurring in the setting of FAP (familial adenomatous polyposis). The study is funded by the National Institutes of Health (USA) and is part of an international study called the Co-operative Family Registry for Colorectal Cancer Studies (CFRCCS) involving families from Australia, New Zealand, Canada and the United States.

Currently, epidemiological data and biological samples are being collected from affected individuals and their families. It is anticipated that this resource will be of long term benefit for research into risk factors, genetic modifiers and new genes which may contribute to familial colorectal cancer.

For further information regarding this study please contact Genetic Services of WA on 6458 1624.

kConFab Research Project

  • The Kathleen Cuningham Foundation National Consortium for Research on Familial Breast Cancer
Chief Investigator:
Professor Joe Sambrook,
Peter MacCallum Institute,
Melbourne (Victoria).
Local Investigators:
Drs Ian Walpole and Jack Goldblatt,
Consultant Geneticists,
GSWA.
  Anna Nash, RN

kConFab's immediate aims are:

  • To identify at least 1000 families from six Australian states (QLD, NSW, VIC, SA, WA and TAS) and New Zealand with extremely strong genetic predisposition to breast cancer.
  • To obtain and store clinical samples and pathological material (blood, DNA and tumour tissue) from women in these families who develop breast and/or ovarian cancer; and from their first degree relatives, both females and males.
  • To determine by haplotyping whether breast/ovarian cancer in kConFab families is genetically linked to the presently-known known predisposing genes, BRCA1 or BRCA2.
  • To identify germ-line mutations in these families in known breast cancer predisposing genes.
  • To identify carriers (both affected and unaffected) of mutations in these families.
  • To gather genetic and clinical data from the families and to obtain epidemiological information on the major and putative, intervention-susceptible risk factors for breast cancer.
  • To place all of these data in a relational database that is accessible for ethically approved basic and clinical projects.
  • To make de-identified data and biological material available for ethically approved basic and clinical research projects.

The data emerging from this study will lead to:

  • More reliable estimates of the frequency of predisposing mutations in the Australian population.
  • An understanding of the interactions between genetic predisposition and environmental risk factors that cause the disease and to influence its outcome.
  • Identification of new genes that predispose Australian families to breast and other cancers.
  • Optimisation of regimens of surveillance (mammography/MRI etc) of pre symptomatic women that are in accord with their genetic risk - clinical trials to find the most effective ways to treat inherited breast cancer.
  • Measurements of the psychological impact of inheriting genetic predisposition to breast cancer and testing to minimise the stress imposed on women and their families.
  • Improvements in the technology of genetic testing for inherited diseases in the Australasian population.

Further information regarding this study can be accessed by visiting the kConFab website or by contacting kConFab Research Nurse on 6458 1610.

Consanguinity Study

  • A clinic-based study of consanguineous marriage in Western Australia.
Chief Investigators:
Professor Alan Bittles
ScD, PhD, FRCPath,
Local Investigator:
Katrina Port,
Genetic Counsellor.
Dr John Nelson,
Clinical Geneticist,
MD, MRCP, FRACP.
 

The aim of the study is to assess the numbers of couples who have requested genetic counselling regarding their marriage to a biological relative. From the study we hope to be able to help future patients and provide them with a better service and greater understanding of the subject.

Further information regarding this study can be accessed by contacting Katrina Port on 6458 1525.

Genetic Epidemiological Study of Congenital Deafness

Chief Investigators:
Dr Ian Walpole,
Clinical Geneticist,
MBBS, FRACP.
Local Investigator:
Katrina Port,
Genetic Counsellor.

Congenital hearing loss occurs in about 1 in 1000 live-born children in our community. When environmental factors (such as an infection) have been excluded as possible causes, it has long been recognised that 50-70% of such children may have a strong genetic cause for their hearing loss. These children are often without any other disability.

Over the past decade more than 40 specific genes with particular mutations have been associated with hearing loss. Many of these gene mutations are very rare, but one in particular, known as the Connexin 26 gene, is reported in some communities to be responsible for about half of all genetic hearing loss and is a major cause of nerve deafness.

Another gene, which is less likely to cause hearing loss, is the Pendred gene. Mutations in the Pendred gene are occasionally associated with other problems that may develop later in life, such as goitre (thyroid swelling) or decreased thyroid activity (hypothyroidism) and further deterioration of hearing and balance. Thus early detection of someone with a mutation in their Pendred gene can look forward to improved medical management. Deafness due to mutations in the Connexin 26 and Pendred genes are inherited in an autosomal recessive pattern. Autosomal recessive conditions have a recurrence risk of 1 in 4 if both parents carry a change in the gene. It may be important to some couples to know their risks before starting a family.

The study has now been completed with the findings soon to be published. Further information can be accessed by contacting Katrina Port on 6458 1525.

Parent’s willingness to pay for genetic testing for congenital deafness

Chief Investigator:
Dr Ian Walpole,
Clinical Geneticist,
MBBS, FRACP.
Local Investigator:
Katrina Port,
Genetic Counsellor.
External Investigators:
Dr Elizabeth Geelhoed,
Angela Davey.

The aim of the study is to assess the value of genetic testing using congenital deafness as a particular model in families attending Genetic Services of Western Australia, and where the major testing objective is to provide information regarding deafness aetiology. Using a ‘willingness to pay measure’ in the form of a questionnaire developed by Ryan et al., (2003), families will be asked for their attitudes to screening, willingness to pay and sociodemographic information. Cost-effectiveness of genetic testing will depend on the value of this information to the community. This study provides an ideal opportunity to develop a tool to measure the value of genetic testing in this define cohort.

Further information regarding this study can be accessed by contacting Katrina Port on 6458 1525.

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