Genetic Disorders and Test Interpretation

Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes impacting on one another (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes).

More Commonly nowadays the term “genetic disorder” refers to a disease caused in whole or in part by a change in the DNA sequence. This results is an alteration away from the “normal” sequence of the DNA for that gene. 

The Challenge in Test Interpretation

The challenge in a clinic such as ours is often to identify the genetic change which has resulted in the patient’s condition. Genetic tests have become readily available and are now widely applied in medicine However, their appropriate and correct interpretation is where the real challenges lie.

Test Interpretation is our Expertise

The appropriate and correct interpretation of genetic tests is our special expertise and the establishment of a “cause and effect” relationship between genetic test data and the clinical presentation of the patient has always been our particular focus.

NOTE: It is by no means uncommon in our experience to find that genetic tests are inappropriately interpreted with attribution of cause that is not warranted on available evidence.

The growth in understanding of how diseases have a genetic component

As the human genome (the complete set of human genes) becomes more widely investigated in medicine, we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth. A common example of this in Ireland is Cystic Fibrosis, but there are thousands. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. Such mutations are not inherited from a parent, but occur randomly.