The greatest limitation of genetic testing for patients is that it does not usually result in any treatment. Most chromosomal and genetic defects are incurable.
If a disorder has a biochemical cause, it can sometimes be treated.
Nevertheless a genetic diagnosis can sometimes help to recognise symptoms and treat them more effectively. This can lead to greater comfort and a better quality of life for patients. A correct diagnosis also allows a targeted follow-up plan with special attention for possible complications and may result in a more precise prognosis of the clinical picture.
For some patients it also offers an answer to whether a particular disorder occurring within a family is inherited and, if so, how likely it is that the patient himself or his/her descendants will inherit it. Sometimes this enables us to take preventative action.<top>
For partners who want to have a child but have an inherited disorder, we can carry out a risk analysis (see Consultation before conception). Even if they already have a child that has inherited the condition, a diagnosis may be important when it comes to considering a possible future pregnancy.
That is because it is possible to carry out a PGD-analysis and/or a prenatal diagnosis. PGD treatment implicates the embryos being genetically tested in the context of IVF/ICSI treatment before being transferred to the uterus.