Using advanced genetic sequencing, including smMIP-based targeted sequencing on 120 men and whole exome sequencing with family data on 48, researchers raised diagnostic yield to about 1 in 13, suggesting a possible genetic cause in as many as one in eight to one in five infertile men.

An Indian study of 247 men with severe sperm problems found that traditional genetic tests explain infertility only in a small fraction, highlighting a major role for male factors in infertility.

Overall, the study suggests a substantial portion of infertility may be due to genetic factors in men, clarified through modern sequencing and family-based analysis.

The research emphasizes that genetic testing can inform treatment decisions and reduce emotional and financial burden for couples.

Researchers advocate combining traditional chromosome testing with modern sequencing for a comprehensive, cost-effective diagnostic strategy rather than replacing existing tests.

Specifically, sequencing should complement conventional chromosome tests to provide a more accurate and affordable infertility diagnosis.

India-developed, patented targeted sequencing technology enables detecting multiple genetic abnormalities in a single test, potentially saving time and money.

A patented targeted sequencing method from India can detect multiple genetic abnormalities in one test, streamlining diagnostics and reducing costs.

Findings have practical implications: early genetic diagnosis can guide sperm retrieval and IVF planning, and prompt testing of female partners for risks like cystic fibrosis to inform genetic counseling and pregnancy planning.

Identified genetic findings can influence clinical decisions such as planning sperm retrieval and IVF, and may necessitate testing female partners for conditions like cystic fibrosis to assess risks for future children.

The study notes that many genetic causes are not detectable by standard chromosome analyses or Y-chromosome testing, underscoring the value of more comprehensive sequencing approaches.