Your Genetic Diagnosis

To begin, it’s important to understand that a Genetic diagnosis can apply to anybody, at any stage of life.

  • In Utero - There are some conditions which affect the baby in utero and signal the presence of a genetic disorder through abnormal scans or abnormality of screening tests and be confirmed by identification of chromosome or individual gene abnormality on evaluation of a sample from the baby. 

  • Newborn, Children and Adults - Equally, genetic disease can emerge in the newborn period, childhood or in adult life. 

The Genetic Diagnostic Challenge - Recognise & Identify

The challenge in our clinic is to successfully achieve the following;

  1. marry the history of the illness in the individual patient, with  

  2. the appropriate Consultant expertise to recognize and identify the disorder, no matter how rare, and

  3. thereafter establish confirmation of that diagnosis by specific DNA analysis. 

Post Genetic Diagnosis Course

Once a diagnosis of a named genetic condition is confirmed, it informs all subsequent decisions but you can expect

  1. to discuss the exact nature of the condition, the general experience in terms of prognosis,

  2. identify Consultant colleagues who are in a position to offer supportive care or appropriate monitoring and follow up on an ongoing basis, as well as

  3. to consider the implications for other family members. If a specific confirmed DNA mutation has been identified, then predictive tests can be offered to family members who are “at risk” in the wider family and who may wish to seek such analysis on their own behalf. NOTE: This service is only available to patients who contact us seeking predictive tests. 


The Limitations on Genetic Diagnosis

It is important to recognize that despite our best efforts, there are always patients whose diagnosis is beyond reach. Every effort is made to secure a diagnosis which most likely explains the symptoms and difficulties the patient is encountering but, even with more than 35 years of experience in clinical genetic practice, there will be patients who are disappointed that no specific DNA mutation, no specific named disorder can be identified and established with certainty in their circumstance.