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Genetic Conditions

    What are genetic conditions?

    Many health or developmental conditions are due to either a variation in our genetic information or a combination of our genetic information and environmental causes such as diet, chemical exposure or lifestyle. Genetic conditions account for many of the health and development problems seen at birth, childhood, adolescence and adulthood. 

    Where do I start if I am concerned about a genetic condition?

    If you have not already done so, you may like to complete your Family Health History. Once you have completed this, you can take it and discuss it with your family doctor who will recommend whether or not you need to discuss your family health history with a genetic counselling service.

    Where can I go for support?

    Support Groups can provide affected individuals and families with information about the condition and community resources, as well as an understanding and empathic ear. There are hundreds of genetic conditions represented by support groups in Australasia and internationally.

    Genetic Alliance Australia (formerly known as Association of Genetic Support of Australasia) is a not-for-profit organisation that can also help.  Genetic Alliance Australia have a registry of contacts and will ensure that you have someone to talk to or a place to go to make your journey a little easier.

    For information on support groups specific for a condition refer to our page on Genetic Support Groups.

    Information about Genetic Conditions

    If you know the name of the condition you are looking for information about, you may like to type it in to the "search site" window located at the top right of this page.

    If you do not find what you are looking for, the two options listed below may be of use:

    Genetics Fact Sheets about many common genetic conditions

    Searching the Internet for information about rare genetic conditions

    The Internet can be a valuable source of information as well as daunting to navigate.

    It is important to remember that while online information can be useful, it should not replace the expert advice of a health professional who is able to provide individualized care and information.

    The links below may help you find information online about health conditions, some of which can be genetic.

    Australian Information Sites

    General Health


    Access a wide range of up-to-date and reliable information on health and well-being Better Health ChannelProvides health and medical information to help individuals and their communities improve their health and well-being Multicultural Health Communication ServiceProvides information about health issues and health services to people who speak languages other than English.

    Genetic Conditions

    Genetic Alliance Australia

    Have a rare disease register representing over 1200 rare conditions to facilitate contact with others with the same or similar condition.

    International Information Sites

    Genetics Home Reference 

    Provides consumer-friendly information about the effects of genetic variations on human health.

    National Organisation for Rare Disorders (NORD) NORD’s Rare Disease Database provides reports in patient-friendly language about more than 1,200 rare diseases.


    Expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

    Unique Rare Chromosome Information A source of information and support to families and individuals affected by any rare chromosome disorder and to the professionals who work with them.

    Please note that the above sites are external to The Centre for Genetics Education and therefore we can not monitor or assess the reliability or accuracy of information provided from them. The Centre assumes no responsibility for the type, amount or quality of information provided on external sites.


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