When is a genetic test needed?
Genetic Testing
Children who gain significant weight at a very early stage (before 5 years of age) and are constantly hungry, may have an underlying faulty gene causing these problems.
If you or your child have such a history of weight gain and hunger, you will be asked to see a Doctor, usually a Paediatrician or an Endocrinologist at the local Hospital for further investigations.
Based on their assessment, the Doctor may decide to perform a genetic test to look for a gene causing the weight problem. This is done by a mouthswab that collects DNA from the saliva. The sample is sent to a genetic testing laboratory to be analysed so it could take weeks or months before the result is available.
If the genetic test finds a faulty gene that is very likely to cause the weight gain, the Doctor who requested the test will then discuss with you what treatments can be offered, depending on the gene that was found.
As a general rule, we all have two copies of each gene in our body.
In some rare cases, both copies of some genes that cause severe weight gain, POMC, PCSK1 or LEPR are not working, so patients can be treated through the NHS with a medication called Setmelanotide (IMCIVREE) that reduces the excessive hunger and leads to weight loss. These patients are referred to Professor Farooqi to be assessed to see if Imcivree is suitable.
Where only one copy of POMC, PCSK1 or LEPR is affected, or a different faulty gene is found, you may qualify to take part in a clinical trial. A clinical trial is a research study where a new medication is tested before it becomes available for prescription. If this of interest to you, please ask your Doctor to refer you to Professor Farooqi who will be in touch if a suitable clinical trial becomes available.
