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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.

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    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.

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    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.

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    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:


    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 Health Information Sites


    General Health

    HealthInsite Access a wide range of up-to-date and reliable information on health and well-being
    Better Health Channel Provides health and medical information to help individuals and their communities improve their health and well-being
    Multicultural Health Communication Service Provides 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


    Genetic and Rare Disease Network


    Facilitates networking between support groups, health professionals and patients and families to improve community and professionals' knowledge of genetic conditions, their impact and available services.

    International Health Information Sites

    Genetic Conditions


    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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    Last updated: Aug 22, 2016