Table 1.

Interpreting a genetic test report

It is not unusual for genetic testing to be negative. This does not mean that the individual affected does not have a genetic disease for the reasons described above

The reason for testing is specified such as ‘to investigate the cause of this patient’s renal phenotype’

There is usually a result summary where it will be made clear if the individual does or does not have a genetic diagnosis based on the type of test performed and the reason for testing. The gene change will be summarised here, whether the patient is homozygous or heterozygous and the disease associated with that genetic change if it is clear and known

The Online Mendelian Inheritance in Man (OMIM) code for the disease diagnosed is usually specified where this is available which provides further details of the clinical diagnosis

The implications of the result are specified such as the inherited risk to offspring and other relatives. A recommended action is also specified such as ‘testing of at-risk relatives after genetic councelling’

The gene name is in italics and the type of variant is described according to its genomic location, its location in the protein, and the type of variant it is, e.g. deletion, missense, and frameshift. The type of variant is important as this may influence access to participation in future clinical trials as well as a better understanding of their condition. All patients should therefore own a personal copy of their genetic test report

The variant will either be classified as pathogenic, likely pathogenic, a variant of uncertain significance (VUS), benign, or likely benign based on the ACMG scoring system [37]

For genetically undiagnosed individuals or those with a variant of uncertain significance, it is worth contacting the genetics laboratory (or in some cases repeating whole exome or genome sequencing) every 2–3 years as variants are being up or downgraded and new variants are being rediscovered all the time