Today, low fertility affects 15% of couples, bringing with it a series of problems which impact on couples’ psychology with its concomitant serious social and economic implications. In 50% of such cases, the cause is to be found in a fertility disorder in the man, and the majority of couples resort to assisted reproduction to produce biological offspring. Diagnosing male low fertility is initially done through a spermodiagram which determines the number, motility and speed of the spermatozoa. This test is often inconclusive in its results, therefore requiring further tests, which may be invasive, such as a testicular biopsy.

The approach adopted by ΒΙΟΖ – The Laboratory of Genetics at the University of Thessaly – in collaboration with the assisted reproduction unit, Embryolab, concerns the valid, fast and non-invasive diagnosis of low fertility in men. Our approach is based on the idea that fertility disorders stem from a genetic background, that is to say, specific mutations of the genetic material trigger low fertility. The holistic analysis of these mutations and their combinations using modern techniques and tools will lead to the building up of a genetic profile for each low fertility category, and which can be ‘read’ through a simple test. This would be done by simply taking some blood from the man which would then place each one in a sperm category, whether that be healthy or not, according to the genetic profile. The test will be sensitive, will limit the errors in distinguishing between categories and will provide information which is not available with current analyses, so as to draw up a plan for carrying out procedures leading to a successful pregnancy.

Those taking part in the programme will give blood and sperm for analysis. Should they wish, they will be informed about their fertility through the spermogram carried out by Embryolab. After that, the sample will be anaysed by BIOZ- The Laboratory of Genetics at the University of Thessaly. It should be emphasized that throughout the programme, complete confidentiality will be observed and all sensitive data of those taking part will be protected.

Already there are DNA tests based on pre-existing mutations, which may affect sperm quality. Centogene, with headquarters in Germany, offers a genetic test package for specific mutations. There is also the genetic test offered by the company Evolve Gene with offices in the USA, Europe and Hong Kong. The specific test provides information on 13 genes which according to the literature affects fertility.

Nevertheless, the approach of the above companies is somewhat unsatisfactory as the results of these genetic tests concern isolated mutations, and thus are not always informative or definitive when it comes to fertility, since low fertility relates to multiple mutations and genetic correlations.

ΒΙΟΖ’s and Embryolab’s approach is holistic and will be based on the analysis of the whole genome and not just on individual genes, and thus will shed light on the most complex genetic and mutation correlations which affect and determine male fertility.

Therefore, participation in the programme will not only offer valuable assistance in producing the diagnostic test itself, but in terms of assisted reproduction the new database, designed specifically for the Greek population, will permit a better understanding of hereditary mutations and consequently will be able to determine with precision the likelihood of offspring carrying the specific mutations. Furthermore, new scientific data will contribute both to a better understanding of the genetic basis of low fertility amongst men as well as to developing methods for diagnosing and treating it.

The on-going development of the programme and, by extension, its findings will be accompanied by a presentation of its results to the general public in the form of participation in exhibitions, publications and articles in international journals as well as, once the project has ended, the holding of a seminar open to the public.