First male fertility test based on methylation of sperm DNA released by Episona Inc.
Brian Abraham| Epigenetics Experts | October 25, 2016

Episona Inc., which describes itself as an epigenetics data company, announced on October 17, 2016, the launch of Seed, the first ever male fertility test based on the detection of epigenetic marks on the DNA carrier in sperm cells. The company says this type of information goes beyond the traditional metrics for male fertility: count and motility. The test detects for abnormal methylation patterns on 480,000 regions of DNA known to be important to fertility.

Brian Abraham, Postdoctoral Fellow, Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology (webpage):

Expertise: epigenetics and cancer, bioinformatics

Episona recently released “Seed,” a fertility test designed to predict whether sperm is capable of resulting in high-quality embryos based on its DNA methylation profile. This product grew out of research done at the University of Utah and University of Southern California studying the correlation between sperm epigenomes and their success. While the link between DNA methylation and sperm success has been studied, there is currently no consensus for how epigenomes contribute to this success. Predicting which sperm sample is likely to give rise to healthy embryos by looking at DNA methylation is a reasonable scientific premise, so releasing a diagnostic test that examines DNA methylation in sperm could help couples make decisions about their family planning.

Several labs have looked at the methylation status of specific genes in normal and abnormal sperm to try to distinguish the two groups, with some success. Scientists from Episona previously examined DNA methylation genome-wide in the sperm of 127 males correlated with information about who had successfully conceived. Their algorithm successfully categorized nearly all of the samples into “makes good embryo” and “doesn’t make good embryo” categories.  They noted that increasing the number of sites examined for DNA methylation increased their success rates, so perhaps the need for a whole-genome approach is warranted. Given that right now, the only way to detect problems with sperm is to look at them under microscopes, a more sophisticated test is promising, even though there is no known way to correct the defects it identifies.

The best summary of this test is probably Episona’s own from their Terms of Service: “We provide the Results for informational, educational, and research purposes only, and we do not guarantee the findings and conclusions we present to you in any way…. The field of epigenetics is in its primacy, and you agree that the Results we provide to you are not fully indicative of your health status.”

Declared interests (see register of interests policy):

No interests declared.

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