Applications of genetic testing and screening
in multicultural Australia

 

  1. Table 4 lists the more common conditions for which diagnostic, predictive or carrier molecular genetic
    testing would be used, given clinical indications in the patient or a family history that meet criteria for access to testing.
  2. Table 5 lists conditions for which carrier screening may be appropriate based on the ethnic and cultural
    background of the patient even in the absence of a personal family history.
  3. Very little is known about the specific genetic issues pertaining to Indigenous Australians. However, the
    rare genetic condition called Machado-Joseph syndrome or Groote Eylandt syndrome (spinal cerebellar
    ataxia 3) is more prevalent in aboriginal communities particularly in North Eastern Arnhem land
    (see Genetics in practice).
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Table 4

Conditions for which diagnostic, predictive/pre-symptomatic or carrier genetic testing
may be used. MBS indicates those tests that are available on Medicare Benefits Schedule.
Detailed information provided in the sections under which the conditions are listed
(AR = autosomal recessive, AD = autosomal dominant, XL = X-linked)

Table 4

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Table 5

Carrier screening based on ethnic and cultural background
(AR = autosomal recessive, AD = autosomal dominant, XL = X-linked)

Table 5

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