Human Genetics Society of Australasia

Recommendations from the Human Genetics Society of Australasia on neurofibromatosis, heterogenous genetic disorders, methylenetetrahydrofolate reductase & apolipoprotein E testing, carrier state testing & other genetic tests. The Human Genetics Society of Australasia was formed in 1977 to provide a forum for the various disciplines collected under the title of Human Genetics. The HGSA is a full member of the International Federation of Human Genetics Societies and domestically we work closely with the Royal Australasian College of Physicians and Royal College of Pathologists of Australasia as well as other groups through the Pathology Associations Council.

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

Date reviewed: 13 October 2016

While genetic testing can help indicate susceptibility to particular genetic conditions, there are some conditions where the presence of particular alleles is neither necessary nor sufficient to cause the condition or where the alleles have a higher prevalence in the general population than the condition itself. This is the case for instance with apolipoprotein E as a genetic marker for Alzheimer’s disease and methylenetetrahydrofolate as a marker for venous thromboembolism.

Supporting evidence
  • Goldman JS, Hahn SE, Catania JW, et al. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine 2011;13(6): 597-605.
  • Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genetics in Medicine 2013;15(2):153-6.
How this list was made 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.

Download HGSA Recommendations