Rare Disease Day: the importance of early prevention and diagnosis

Rare Disease Day is dedicated to all those with rare disorders, to their relatives, doctors and social assistants specialised in the sector. More than six thousand rare diseases are known to exist in Spain. IVI offers PGD (Pre-implantation Genetic Diagnosis) and CGT (Compatibility Genetic Test) as two methods for the diagnosis of genetic anomalies in both parents and embryos, and they, consequently, are the way to rule out those diseases known to be rare.

Polycystic kidney disease, Myotonic dystrophy, Cystic fibrosis, Charcot-Marie-Tooth disease type 1 and Huntington’s disease are the most common rare diseases and the most analysed ones amongst patients at IVI.

Currently, it is estimated that this group of five diseases represent 42.2% of the previous testing by Pre-implantation Genetic Diagnosis. IVI has performed more than 26,000 PGD cycles, from which almost 5,000 children have been born free of the disease that was tested for, thus fulfilling the IVI mission: to help patients conceive and give birth to healthy babies.

Since 2008, clinical pregnancy rates at IVI have constantly been increasing, reaching almost 45% in 2016. Rare diseases pose serious problems for our society, and this is where it becomes especially important to make a good diagnosis.

Patients attending for Genetic Pre-implantation Diagnosis request the test, either because they already had a child with a heritable genetic disease or because a member of the family is affected by a rare disease and they already know they are carriers. This means that the disease has been identified in the family and the intended parents know there is a risk of being inherited. The test offers the double benefit: first of all, to ensure that the child will not suffer from the same disease and, secondly, to avoid passing the disease on to future generations.

Assisted Reproductive Techniques offer huge benefits for rare diseases since, thanks to the use of such techniques, all pregnancies are planned. And, further to the PGD analysis and embryo selection, a preliminary test can also be used. IVI was one of the first Spanish groups of clinics to offer the Compatibility Genetic Test (CGT) to all patients, as it is voluntary and proposed to all patients attending IVI, even though they do not suffer from any known condition, as there is always certain risk involved. The CGT is the best way for primary prevention.

Pre-implantation Genetic Diagnosis

Pre-implantation Genetic Diagnosis detects and prevents the transmission of serious diseases, caused by genetic and chromosomal anomalies found in the embryos prior to implantation, so that babies free of inherited diseases can be born.

CGT (Compatibility Genetic Test)

The Compatibility Genetic Test is an innovative technique that allows to reduce the transmission of genetic diseases to our children.