Integrating Genetics Into Primary Care: Family History Is Key

Lorie M. Vandenbusche, RN, MSN, FNP


Topics in Advanced Practice Nursing eJournal 

In This Article

Interpretation of Family Health History

Red flags are indications that there may be an increased genetic risk and the need for more in-depth probing. The primary red flag for most common diseases is a large number of affected relatives with the same or related condition. Premature onset of disease is also a genetic risk factor and varies depending on the disease ( Table 3 ).

A number of methods have been proposed for assessing and stratifying risk in the presence of red flags. Scheuner and colleagues[19]stratify risk based on family history into 3 groups: high, moderate, and average.

  • Premature disease in a first-degree relative;

  • Premature disease in a second-degree relative (coronary artery disease only);

  • Two affected first-degree relatives;

  • One first-degree relative with late or unknown disease onset and an affected second-degree relative with premature disease from the same lineage;

  • Two second-degree maternal or paternal relatives with at least 1 having premature onset of disease;

  • Three or more affected maternal or paternal relatives; or

  • Presence of a "moderate-risk" family history on both sides of the pedigree.

  • One first-degree relative with late or unknown onset of disease; or

  • Two second-degree relatives from the same lineage with late or unknown disease onset.

  • No affected relatives;

  • Only 1 affected second-degree relative from one or both sides of the family;

  • No known family history; or

  • Adopted person with unknown family history.

Clinical management and prevention strategies can be focused on individual risks. Often a plan of action is identified with the help of the genetics professional. Stratifying patients into risk categories, while not always straightforward or simple, is a valuable tool for guiding clinicians in making better patient management decisions. Scheuner and colleagues[19] recommend that those at high risk should be offered personalized prevention and screening and referral for further evaluation; those at moderate risk should be provided with personalized prevention and screening recommendations, and for people with average risk, reinforce standard prevention and screening recommendations.[19] An algorithm for stratifying risk and the appropriate measures to take is shown in Figure 2.

Algorithm for management based on risk stratification.[19]

The following sections outline some of the reasons for referral to a genetics professional:[20]

  1. Health problem that occurs at an earlier age than expected (10 to 20 years before most people get the disease).

  2. Same health condition in multiple family members per risk stratification.

  3. Presence of condition in the less frequently affected gender (for example, breast cancer in a male family member).

  4. Certain combinations of health problems within a family (for example, breast and ovarian cancer or heart disease and diabetes).

  5. Multifocal or bilateral occurrence (ie, multifocal melanoma).

  6. Occurrence of disease in the absence of traditional risk factors or after conventional prevention strategies.

  7. Birth defects, growth or development problems, pregnancy concerns, and other known genetic conditions in the family.

  8. Mental disability without a known cause.

  9. Unexplained infertility or multiple pregnancy losses.

  10. Personal or family history of thrombotic events.

  11. Adult-onset conditions such as hemochromatosis, hearing loss, or visual impairment.

  12. Family history of adult-onset neurodegenerative disorder, such as Huntington's disease.

  13. Features of a genetic condition such as neurofibromatosis (café-au-lait spots, neurofibromas on the skin) or Marfan syndrome (unusual tallness, dilation of the aortic root).

  14. Personal or family history of cancer with a known or suspected inherited predisposition (such as early onset breast cancer, colon cancer, ovarian cancer, or retinoblastoma).

  15. Family member with an unusual type of cancer.

  16. Sudden death in relative who seemed healthy.

  1. Maternal age of 35 years or older at expected time of delivery.

  2. Either parent has had a child with a chromosomal problem.

  3. Positive multiple-marker alpha fetoprotein profile screening test.

  4. Either parent has had a child with a birth defect or has a family history of birth defects.

  5. Pregnancy history of 2 or more unexplained miscarriages.

  6. Maternal diabetes, epilepsy, or alcoholism.

  7. Maternal exposure to certain medications or drugs (such as some antiseizure medications) during pregnancy.

  8. Family history of mental disability.

  1. Positive newborn screening test.

  2. One or more major birth defects.

  3. Unusual (dysmorphic) facial features.

  4. Suspicion of a metabolic disorder.

  5. Unusually tall or short stature or growth delays.

  6. Known chromosomal abnormality.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.