Question: How have you previously helped families with inherited diseases?

Nicola Ibberson answered on 18 Jun 2012:

My job is to do the actual testing on samples provided by patients, look at the results and decide if they are responsible for genetic disease in that person. If I think they are (and this involves looking at how the result affects the way the protein works, looking to see if anyone else has seen the same result before, and various other things) then I can write a report to the patients doctor.

In the report I explain exactly what I’ve found, what the outcome of the finding is likely to mean for the progression of disease in that patient, and I offer testing to close relatives, so that they can see if they ‘carry’ or are at risk of having the disease themselves. Once they have been tested, we can extend testing out to more ‘at risk’ family members. I may even be able to offer testing to unborn babies, depending on how severe the disease is, so that the family can be sure they won’t pass it on to their children.

Depending on the disease, a positive diagnosis might mean that the patient and their family can get access to specialist care or certain drugs that will help improve their quality of life.

Another way I help is by doing research to try and find new causes of genetic disease, so that families currently living without a proper diagnosis for their condition may have hope in the future. I also try and better educate other healthcare workers so that they are able to understand genetics better, and know the warning signs to look out for in their patients.