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 sequential testing for heterogeneous genetic disorders when targeted next generation sequencing (NGS) is available

Date reviewed: 13 October 2016

A heterogeneous genetic disorder is one where the same disease or condition can be caused, or contributed to, by a number of different genes. The traditional strategy for genetic testing involves sequential sequencing of individual genes, selected according to the patient’s clinical presentation and family history. By contrast, next generation sequencing (NGS) involves the sequencing of millions of small fragments of DNA at the same time. Reductions in the cost of NGS now make it a more attractive solution for clinical diagnostic testing to identify the disease-causing mutation(s) in patients with genetically heterogeneous disorders than traditional sequential testing. In particular, the targeted NGS approach which restricts analysis to genes known to be implicated in a particular phenotype has been also successfully applied to heterogeneous disorders such as inherited peripheral neuropathy (IP).

Supporting evidence
  • Antoniadi T, Buxton C, Dennis G, et al. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. BMC Medical Genetics 2015;16:84.
  • Ellard S, Lindsay H, Camm N, et al. Practice guidelines for targeted next generation sequencing analysis and interpretation. Association for Clinical Genetic Science, 2014.
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.

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