Understanding the many genetic influences that affect human reproduction is important in the investigation and counselling of patients with reproductive issues.

This article aims to present a guide for GPs to assist in the management of the infertile couple who, in this context, is considered a heterosexual couple who meet the clinical definitions of subfertility.

It is essential that both members of a couple are considered as patients. For both individuals, a reproductive genetic medical history should include general personal medical history, family medical history (including any known genetic conditions), pregnancy and miscarriage history, and enquire about the health of any existing children.

For the female partner, specific history to review includes genetically influenced reproductive conditions, such as endometriosis and polycystic ovarian syndrome. For the male partner, this includes assessment of any structural reproductive disorders such as maldescent of the testes, and chronic respiratory illness.