In the context of declining fertility rate, there is also an embarrassing status quo. According to incomplete statistics, China’s infertility population is now close to 50 million, which has become a problem that cannot be ignored, accounting for 12.5% of couples of childbearing age. Among them, male factors account for nearly half, and a part of the patients can not get a clear diagnosis of the cause, and therefore will not be diagnosed and treated accurately enough, the status quo of repeatedly seeking medical advice. Among these male patients, about 30% are caused by genetic factors, which can manifest as oligospermia, azoospermia, severe weak spermatozoa, high sperm malformation, and sperm immobility. In addition, genetic problems can lead to abnormal development of secondary sexual characteristics, small testicular size or cryptorchidism, repeated miscarriages in the female partner, and failure of ICSI treatment. Male infertility due to genetic factors can exist with ineffective treatment with medication. If these patients are not clearly diagnosed through genetic testing, they may continue to use experimental medication or blindly undergo surgery, thus delaying their condition and increasing their pain and medical costs. So what is “fertility genetic testing”? Let’s compare human development to “building a building”, genes are the blueprint, while proteins, sugars, trace elements, etc. are the bricks, cement and rebar. The genetic variation is a blueprint error, a “congenital” problem. Problems in the “construction process” are acquired problems. Infertility can be a “blueprint” problem or a “construction” problem. For example, altered genetic material is a congenital problem, while environmental problems such as smoking, drinking, and exposure to pollution are acquired problems. Acquired problems are relatively easy to treat, while congenital problems are currently more difficult to treat and can mostly only be treated through assisted reproductive technology. Infertility has been shown to be linked to specific genes, and over 100 genes have been found to be associated with male infertility. Genetic testing can check for “mutations” in genes related to reproductive function. So what is the use of the test? Firstly, it can assist the doctor in making a definitive diagnosis, and once this is done, it can reduce the need for attempted treatments, such as the use of certain medications. Since the sperm production cycle is about 74 days, the patient must be on medication for up to 2.5 months to know if it is working. If the patient has a spermatogenesis disorder due to a genetic problem (e.g. Y microdeletion, meiotic arrest-related gene mutation) or a sperm malformation (e.g. head or tail malformation), it is unlikely that treatment with medication will have the appropriate effect. In such cases, based on the confirmed diagnosis, the patient may be advised not to continue with medication and to pursue the IVF option. Second, in some specific cases, genetic diagnosis may have an impact on the treatment strategy. In patients with abnormalities in sexual development (e.g., small testicular size, hypermasculinity, delayed puberty), hormone therapy is sometimes used. However, the same karyotype 46, XY patients, may have multiple diagnoses with very similar clinical presentations, such as androgen insensitivity, 5α-reductase deficiency syndrome, and testicular mesenchymal dysplasia. After the diagnosis is clarified by genetic testing, the treatment plan will be more targeted and the prognosis will be more clear. In addition, genetic testing can help us to assess the necessity and probability of success of microseminal extraction surgery. Finally, clarifying the cause of the disease can reduce the patient’s doubts and reduce the number of visits to the doctor. The positive aspects of genetic testing for fertility are undeniable, but of course genetic testing can be particularly limiting and is still being further refined.