Document resource
Background In November 2022 and July 2023, three new Medicare Benefits Schedule items provided rebates for genomic testing for neuromuscular disorders when requested by ‘a specialist or consultant physician’. Here we discuss some common pitfalls an unsuspecting neurologist may encounter when requesting diagnostic genomic testing.Results Pitfalls discussed:Reasons why a negative, or more correctly termed uninformative, result does not rule out a genomic causeUnexpected results (variants of unknown significance (VUS), secondary or incidental findings, non-paternity and compound heterozygous results requiring cis/trans analysis)Impact on the patient. Adverse psychological impacts are increasingly acknowledged for both positive and uninformative resultsImpact on the family. This issue may be particularly important if there is a need for trio (patient and both their parents) or linkage analysis.Family planning and reproductive choices for at risk relatives where presymptomatic testing may/may not be available.Life insurance and other financial products. What are the patient’s rights and legal protections?Conclusions/Decision The pitfalls in genomic testing are myriad and a canny neurologist would be wise to consider them before instigating testing; forewarned is forearmed. The issues raised can be mitigated by the involvement of genetic counsellors. However, this option is limited by access and is inequitable. In a related abstract, we discuss a proposed community based Pilot Program to trial the provision of on-call genetic counselling and clinician support to enhance the experience of motor neurone disease families and clinicians in Victoria and Tasmania in relation to genomic testing.