Fabry Genetic Support Service
The Fabry Genetic Support Service (FGSS) is a dedicated genetic counselling service for patients with Fabry disease and their relatives.
How genetic counselling can help patients with Fabry disease
The genetic counselling process provides information about the genetics and inheritance of Fabry disease.
Although you may have had genetic counselling in the past this service will:
- Provide you with the opportunity to revisit the inheritance of Fabry disease and have your questions answered.
- Recognise that you may now be at a different stage in your life and genetic counselling may now be relevant for you, your children and your blood relatives.
- Work with you, at your pace to provide you with the genetic information you need.
- Provide you with the opportunity to speak about your personal story and experience with Fabry disease.
The genetic counsellor will work with you to take a family tree which can help to identify relatives who may be at risk of Fabry disease. You will be given strategies, support and resources that will assist you with contacting your relatives who may be at risk.
Why family screening is important
If you have Fabry disease, it is likely that other members of your family may also have Fabry disease.
It is important that your blood relatives, both males and females, are aware of Fabry disease so they can receive genetic counselling and testing. The earlier an individual is discovered to have a gene change that leads to Fabry disease, the earlier they can be assessed and appropriate management initiated.
Females and Fabry disease
It was once thought that females could only be “carriers” of Fabry disease, and that only males were affected by the disease itself. However, evidence shows that females with a Fabry gene change can also experience serious health problems (Von der Lippe et al. 2016; Wang et al. 2007; Galanos et al. 2002; MacDermot, Holmes & Miners 2001; Whybra et al. 2001). These health problems may have incorrectly been attributed to other causes instead of Fabry disease and it is for this reason that females should also be tested.
How genetic counselling can help relatives of patients with Fabry disease
The Fabry Genetic Support Service offers genetic counselling, testing and support to any of your blood relatives and can work directly with your relatives, if they choose.
Any of your relatives who are found to carry a Fabry gene change are referred to a Fabry disease specialist so they can be assessed, managed and provided with expert medical information.
The earlier an individual is discovered to have a Fabry gene change the earlier they can be assessed and managed.
What is Fabry disease?
Fabry disease is a genetic condition that makes you unable to break down a substance called globotriaosylceramide (GL-3) in cells throughout your body. In most people, GL-3 is broken down and recycled for use elsewhere or eliminated from the body. However, patients with Fabry disease do not produce enough of the enzyme alpha-galactosidase A that helps the break-down process, so the substance (GL-3) gradually builds up in the cells. This gradual build up causes the often painful symptoms of Fabry disease, and can lead to severe organ damage over time. Fortunately, treatment for Fabry disease is available.
Is there a charge for the Fabry Genetic Support Service?
There is no charge to patients or their relatives. The genetic counselling and testing provided by the Fabry Genetic Support Service is generously funded by Sanofi Genzyme.
Sanofi Genzyme will not have access to any information that is provided as part of genetic counselling or testing. Patient details or details of relatives are not passed onto Sanofi Genzyme.
Who is the team behind the Fabry Genetic Support Service?
The genetic counselling service is provided by myDNA, an Australian company that specialises in genetics and personalised medicine. The company has now expanded its genetic counselling service to include genetic conditions such as Fabry disease.
Led by Associate Professor Leslie Sheffield, an experienced clinical geneticist, the team is staffed with experienced genetic counsellors who have many years of experience in the public hospital system working with many different genetic conditions.
myDNA is committed to providing a dedicated genetic counselling service for Fabry disease to patients and their relatives.
What is Genetic Counselling?
Genetic counselling is “a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions” (Human Genetics Society of Australasia, 2020). The genetic counselling provided in the Fabry Genetic Support Service is specific to Fabry disease.
The Fabry Genetic Support Service does not provide treatment information. Please contact your treating Fabry Physician if you have any medical queries.
For general information on Fabry disease, visit Fabry Australia (www.fabry.com.au)
Galanos, J., Nicholls, K., Grigg L., Kiers, L., Crawford, A., & Becker, G. (2002) Clinical features of Fabry’s disease in Australian patients. Internal Medicine Journal 32:575–84.
Human Genetics Society of Australasia (2020). Definition of Genetic Counselling. Retrieved from https://www.hgsa.org.au/asgc/definition-of-genetic-counselling
MacDermot, K. D., Holmes, A., & Miners, A. H. (2001). Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Journal of Medical Genetics, 38(11), 769–775.
Von der Lippe, C., Frich, J. C., Harris, A., & Solbrække, K. N. (2016). Experiences of Being Heterozygous for Fabry Disease: A Qualitative Study. Journal of Genetic Counseling, 25(5), 1085–1092.
Wang, R., Lelis, A., Mirocha, J., & Wilcox, R. W. (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genetics in Medicine 9:34–45.
Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J., Bruhl, K., Gal, A., Bunge, S., & Beck, M. (2001) Anderson–Fabry disease: clinical manifestations of disease in female heterozygotes. Journal of Inherited Metabolic Disease, 24:715–24.
Sanofi Genzyme is not affiliated with the other services/testing provided by myDNA
Sanofi-aventis Australia Pty Ltd trading as Sanofi Genzyme ABN 31 008 558 807. 12-24 Talavera Rd, Macquarie Park, NSW 2113
GZANZ.FABR.17.03.0043 (2), April 2020