Episona, an “epigenetics data” company is a bringing a new male fertility test to market. The test is hoped to provide additional useful information in the evaluation of the male fertility patient in addition to and beyond the information a semen analysis provides.
Epigenetics refers to heritable changes, not in DNA but rather in gene “expression”. Epigenetics therefore refers to anything other than DNA that can influence an organism’s development. Known consequences of epigenetic changes include change in cancer risk, mental retardation disorders such as Angelman and Prader-Willi syndromes, autoimmunity disorders such as Lupus, Neuropsychiatric disorder such as Alzheimers as well as risk for autism.
Epigenetic change can be a normal and natural occurrence but can also be influenced by endogenous as well as exogenous factors. These factors can include, age, environment, lifestyle and disease. Concrete examples include smoking, obesity, malnutrition, extreme stress or sleep deprivation. Several mechanisms have been identified as contributing to epigenetic change including: DNA methylation, histone modification, chromatin remodeling and non-coding RNA, all of which can play a role in initiating and sustaining epigenetic changes. Of these mechanism, DNA methylation is the most broadly studied mechanism.
DNA methylation refers to the addition of “methyl groups” to specific segments of DNA. When this happens to a gene “promoter” the typical effect is to turn off transcription of that gene.
Episona is bringing their product to market Seed in collaboration with MDx, a company that uses DNA methylation testing to predict the presence of cancer. Episona’s product examines over 480,000 regions on sperm DNA for abnormal methylation at different gene sites important to fertility. Seed is the first product on the market to evaluate epigenetic changes in DNA to predict the risk for male factor infertility as defined by the ability of a sperm to fertilize and egg and also as being able to predict poor embryo development.
Some early concerns:
It is not clear whether SEED results vary result to result over time. It is also not clear (as of now) if lifestyle or other changes can affect results such as improving diet, stopping smoking, getting sleep, etc.
New tools for the diagnosis of male infertility such as the Androvia Cap Score (discussed in a prior blog) and the Episona Seed test are encouraging developments and I am hopeful they will both serve to benefit my patients.