Genetic testing WES or WGS

Hi, I am agreeing with Peter here. While there are specific genetic issues that cause specific medical issues, probably including seizures, these don't tend to be tested for with Whole Sequencing methods and I'm not sure under what grounds this would be useful clinically. Again with personalization, although there are some treatments that are beginning to be personalized due to genetic testing, largely when it comes to cancers, these tend to be done through cheaper specific tests rather than WGS.

I do definitely agree with Peter that the seizures should be further investigated, asking for a second with a different GP is definitely a good idea here, and specifically bringing up wanting to see a neurologist should be considered. Different medical fields have different meanings for 'watchful waiting' which is a legitimate medical technique, but if your GP isn't giving you signs to be looking for, or giving you red flag signs to look for, what he's actually trying to get you to do is 'ignore and see if it goes away'.

Epilepsy is the most common seizure disorder, but there are many others, and seizures can be really dangerous. This is definitely not a situation to be ignored. I'd ask to see a different GP. 

Hi, I am agreeing with Peter here. While there are specific genetic issues that cause specific medical issues, probably including seizures, these don't tend to be tested for with Whole Sequencing methods and I'm not sure under what grounds this would be useful clinically. Again with personalization, although there are some treatments that are beginning to be personalized due to genetic testing, largely when it comes to cancers, these tend to be done through cheaper specific tests rather than WGS.

I do definitely agree with Peter that the seizures should be further investigated, asking for a second with a different GP is definitely a good idea here, and specifically bringing up wanting to see a neurologist should be considered. Different medical fields have different meanings for 'watchful waiting' which is a legitimate medical technique, but if your GP isn't giving you signs to be looking for, or giving you red flag signs to look for, what he's actually trying to get you to do is 'ignore and see if it goes away'.

Epilepsy is the most common seizure disorder, but there are many others, and seizures can be really dangerous. This is definitely not a situation to be ignored. I'd ask to see a different GP. 

Hi, thank you for taking the time to reply to my post.

As I mentioned in my response to Peter, the doctor in question was rather shockingly an acute paediatrician at a university hospital and I have even considered making a complaint about her. Anyway, my daughetr's seizures have thankfully stopped after we started dietary interventions under the guidance of a specialist nutritionist. We also did EEG which appeared normal so the chances are that some biochemical imbalances were perhaps causing the sudden seizures. We'll see how things progress but I will definitely seek the advice of a good private neurologist if the seizures return. By the way, as we only witnessed one minor seizure at home and the more serious ones all happened at the nursery, the doctor suggested that nursery staff perhaps confused my daugher's tiredness with a seizure and that was despite the fact that I told her that my daughter's key carer in the nursery has a daughter with epilepsy and very likely knows how to recognise a seizure ... In fact, the nursery staff were so certain that she had a major seizure that they immediately called an ambulance. It's shocking, but unfortunately, it appears that there are doctors like that working for the NHS ...