Recommendations
Tests, treatments, and procedures for healthcare providers and consumers to question
Australia's peak health professional colleges, societies and associations have developed lists of recommendations of the tests, treatments, and procedures that healthcare providers and consumers should question.
Each recommendation is based on the latest available evidence. Importantly, they are not prescriptive but are intended as guidance to start a conversation about what is appropriate and necessary.
As each situation is unique, healthcare providers and consumers should use the recommendations to collaboratively formulate an appropriate healthcare plan together.
Genetics
Human Genetics Society of Australasia
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- Don’t undertake genetic testing when clinical diagnostic criteria exist and there are no reproductive or predictive testing implications.
- Don’t undertake sequential testing for heterogeneous genetic disorders when targeted next generation sequencing (NGS) is available
- Don’t undertake genetic testing for methylenetetrahydrofolate reductase (MTHFR), apolipoprotein E (APOE) and other such tests where the clinical utility for diagnostic purposes is extremely low
- Don’t undertake carrier state testing for rare recessive disorders where a partner has a family history, the couple is non-consanguineous and there are no common causative mutations.
How this list was made
A preliminary list was developed by the Lead Fellow which was then distributed to all the clinical geneticists in Australia who are all members of the Australasian Association of Clinical Geneticists (AACG), a special interest group of the HGSA. Following feedback the topic was revisited at a meeting of this group during the annual scientific conference of the HGSA, after which the list was finalised.