Family history is associated with a higher risk of disease when multiple family members are affected, when the affected family members are first or second degree relatives, and when the disease occurs at a young age. Basic or more specific risk provisions can be used to develop specific guidelines that are customized for each risk group. In high-risk patients, genetic testing and genetic counselling can be considered. The family history is useful to evaluate the penetration of a possible mutation in the family. 

Most family physicians acknowledge genetics and family history taking as an important aspect of primary care and the prevention or early diagnosis of multifactorial diseases.


The pattern of symptoms is based on a particular disease and can take many forms, such as early menopause (before 50), developmental delay in males and low sperm counts.

Associated diseases

  • endometriosis (abnormal growth of endometrial cells outside the uterus)
  • polycystic ovary syndrome (PCOS; condition caused by an imbalance of reproductive hormones that creates problems in the ovaries)
  • uterine fibroids (tumors in the uterus)
  • diabetes mellitus


A family history for a frequently occurring disorder such as diabetes, cardiovascular disease, and various cancers is associated with a relative risk that is two to five times higher than that of the general population. 

In some conditions, the symptoms are more severe in those patients with positive family history compare to those with no family history (such as endometriosis).

Risk factors

A positive family history reflects an inherited genetic susceptibility and also shared common environmental factors and behaviour within the family.


A family history is a marker of an increased risk of the disorder and should be taken into account to target prevention efforts and screening.

The family history does not affect fertility per se but it could play role in diseases that tend to run in families and also could be harmful to fertility.

Family history risk assessment in an infertility setting allows couples to learn about their genetic risks prior to pregnancy. For some couples it provides information about the causes of their infertility. Armed with this knowledge, couples at risk of transmitting genetic conditions may choose to take full advantage of technology such as prenatal genetic diagnosis (PGD). The standard model of providing these couples genetic counseling only at the time of prenatal diagnosis should be examined.

Family history can be used to identify patients with a higher risk for a certain disease and to propose for these patients an adapted follow-up procedure. Subjects with an increased risk should also benefit from a customised screening and prevention programme. Risk assessment and classification are unique for each disease. The family history should be reassessed regularly, as family history can change over time.

While a family history of many genetic conditions may not interfere with ability to get pregnant or carry a pregnancy to term, patients may still want to have that knowledge. Genetic counseling can give a clearer picture.

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