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Choosing Wisely Australia

Gastroenterological Society of Australia

Colonoscopy, with or without polypectomy, is an invasive procedure with a small but not insignificant risk of complications, including perforation or major haemorrhage postpolypectomy, depending on size of lesion. Surveillance colonoscopies place a significant burden on endoscopy services. Consequently, surveillance colonoscopy should be targeted at those who are most likely to benefit and at the minimum frequency required to provide adequate protection against the development of cancer. Cancer ...

Choosing Wisely Australia

Human Genetics Society of Australasia

Like other screening or diagnostic tests, genetic tests do not have inherent utility. It is the adoption of therapeutic or preventive interventions that influences health outcomes. If clinical diagnostic criteria already exist for the condition in question and there are no reproductive or other predictive testing implications as a result of definitively identifying a genetic cause for the condition, then this renders genetic testing unnecessary.

Choosing Wisely Australia

Human Genetics Society of Australasia

With a rare recessive disorder, although the individual with the family history will have an increased risk of being a carrier, their unrelated partner will have a low general population risk. Therefore, their a priori combined risk of having a child with this rare recessive condition will generally be less than 1%. If the gene has no known common disease causative mutations then testing the unrelated partner for carrier status has low sensitivity and specificity.

Choosing Wisely Australia

Human Genetics Society of Australasia

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.

Choosing Wisely Australia

Human Genetics Society of Australasia

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 ...