Familial hypercholesterolemia (FH) is a common autosomal dominant metabolic disease with an incidence of heterozygous FH:1/(137～350) and homozygous FH:1/(160000～300000). Early diagnosis and treatment are critical to the FH population. But the detection rate of FH is even less than 1% in more than 190 countries. Now the commonly used diagnostic criteria for FH mainly rely on cholesterol level test and patient health survey information. The rate of diagnosis/detection without genetic tests is very limited, so genetic testing is considered to be the gold standard for FH diagnosis. Positive results can be confirmed directly. Common international strategies for FH gene screening include uniform screening(UniS), cascade screening (CasS), reverse cascade screening(RCS), targeted screening (TarS) and e-health record identification(EHRI). At present, there is no FH epidemiological investigation at the national level in China. There is no official national conditions and population screening program and diagnosis or treatment guidelines issued, making our country lag behind the international standard in this respect. It is necessary to obtain the appropriate gene testing method and screening program as soon as possible to improve the detection rate of FH in our country, and to ensure that the patients can get the appropriate treatment in combination with clinical practice, so as to benefit many patients with FH to the greatest extent.