How does a laboratory know if a mutation is harmful?
This is a very important question. Genetics laboratories have a saying that ‘anyone can find a mutation, but not everyone can interpret them’. Mutations can have different degrees of seriousness and knowing what effect a mutation will have requires expert knowledge of the disease and the gene or chromosome, and attention to detail. So how does a laboratory know whether a mutation is good, bad, or has no effect at all? First of all it is critical that an expert, such as a clinical geneticist, has looked at the patient, their relatives and their family history, and perhaps also the results of any other investigations carried out. This gives the geneticist clues about what gene or chromosome to investigate. So if, for example, the geneticist thinks the patient may have cystic fibrosis because the patient is showing symptoms of the condition, and other family members have had the condition, they will take a sample from the patient and send it off to the laboratory for testing. They will pr
This is a very important question. Genetics laboratories have a saying that ‘anyone can find a mutation, but not everyone can interpret them’. Mutations can have different degrees of seriousness and knowing what effect a mutation will have requires expert knowledge of the disease and the gene or chromosome, and attention to detail. So how does a laboratory know whether a mutation is good, bad, or has no effect at all? First of all it is critical that an expert, such as a clinical geneticist, has looked at the patient, their relatives and their family history, and perhaps also the results of any other investigations carried out. This gives the geneticist clues about what gene or chromosome to investigate. So, if for example the geneticist thinks the patient may have cystic fibrosis because the patient is showing symptoms of the condition, and other family members have had the condition, they will take a sample from the patient and send it off to the laboratory for testing. They will pro
