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 use brain magnetic resonance imagery (MRI) for routine surveillance of asymptomatic neurofibromatosis type 1
Neurofibromatosis type I (NF-1) is a tumour disorder caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division. It causes tumours along the nervous system that can grow anywhere in the body. Routine screening investigations are not recommended for the detection of the majority of complications associated with the condition. Baseline brain and spine MRI, and routine imaging of the chest and abdomen to identify asymptomatic tumours, do not influence management and should not be undertaken.
Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics 2007;44:81-8.
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.
- 1 Don’t use brain magnetic resonance imagery (MRI) for routine surveillance of asymptomatic neurofibromatosis type 1
- 2 Don’t undertake sequential testing for heterogeneous genetic disorders when targeted next generation sequencing (NGS) is available
- 3 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
- 4 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.
- 5 Don’t undertake genetic testing when clinical diagnostic criteria exist and there are no reproductive or predictive testing implications.