Why Is Genetic Testing Important For Male Infertility?

by Dr. Shiva Murarka Sr. Scientist, Reproductive Genomics, Neuberg Centre for Genomic Medicine

Genetic​‍​‌‍​‍‌​‍​‌‍​‍‌ testing is one of the main instruments that sheds light on male infertility, in particular when the origin of the problem is not revealed by the common tests. Male infertility is a situation where a man’s sperm are not able to achieve fertilization despite regular, unprotected intercourse for at least one year. Although lifestyle, infections, or hormonal imbalances may contribute to the issue, a considerable proportion of the cases are due to genetics. Through genetic testing, one can locate the areas of the genome that are messing with sperm production, function and even transportation. 

Sperm formation is guided by genes present in the chromosomes. With modifications or errors in these genes, the body might end up with fewer sperm, no sperm at all or sperm that are incapable of fertilizing an egg. If small segments on the Y chromosome that are responsible for sperm production are missing – termed Y-chromosome microdeletions – this leads to a direct decrease in sperm production. Klinefelter syndrome is another example that points it out clearly; this is a condition where a man carries an extra X chromosome (XXY instead of XY), and it results in low levels of testosterone as well as a decreased or absent sperm count and in the absence of sperm in the testicular tissue. Mutations in the cystic fibrosis gene that cause the reproductive tract to be blocked are also among those that lead to sperm not being able to mix with the semen. 

Doctors can figure out the best treatment by knowing these genetic causes through genetic testing. The doctors performing genetic testing decide the use of the most advanced reproductive techniques, such as IVF (In-Vitro Fertilization) and ICSI (Intracytoplasmic Sperm Injection), based on the genetic findings, where with ICSI, it is possible to locate a single healthy sperm and then inject it into the egg directly. The couple afflicted with the male infertility problem can only use donor sperm or undergo sperm retrieval surgery if the sperm production is so drastically low that the two aforementioned methods are not feasible. 

And, of course, it has another function in the world, next to that of helping current infertile couples. When presents any genetic condition, couples can undergo genetic counselling, explore the possible health scenarios for a baby and at the same time, they take the responsibility of making sensible decisions regarding family planning. 

To conclude, genetic testing is a clarifier of unexplained male infertility, it saves from unnecessary treatments, and it is an enabler of personalised care. The test results give power to the couples as they are then equipped with the right information and can, with confidence and a sense of preparedness, follow through with the fertility option that suits them ​‍​‌‍​‍‌​‍​‌‍​‍‌best.