Integrating Genetics Into Primary Care: Family History Is Key

Lorie M. Vandenbusche, RN, MSN, FNP


Topics in Advanced Practice Nursing eJournal 

In This Article

Responsibilities of Primary Care Providers

In 2001, the National Coalition for Health Professionals Education in Genetics (NCHPEG) developed a set of core competencies to help clinicians integrate genetics effectively and responsibly into routine care. NCHPEG recommends that at a minimum, every healthcare professional should: (1) self-examine competence of practice on a regular basis, identifying areas of strength and areas where professional development related to genetics and genomics would improve competence; (2) understand that health-related genetic information can have important social and psychological implications for individuals and families; and (3) know how and when to make a referral to a genetics professional.[16] Underlying these competencies is the ability to accurately gather family health history information and identify those who would benefit from a genetics referral.

History collection can be either targeted or comprehensive, depending on the reason for the visit. A targeted history is appropriate for a visit focused on a specific disorder or symptom. Both histories can be collected with a self-administered tool or by patient interview; in a text format or using a pedigree map. The advantages and disadvantages of each method of obtaining and documenting a patient history are highlighted in Table 2 .

The most important element in the family history is the information, not the format. Any method of collection can be appropriate as long as it is accurate, can be easily updated, and allows providers to detect patterns within the family health history.[17]

The comprehensive history should contain information such as:

  • Family structure;

  • Major medical concerns or chronic conditions;

  • Demographic information; and

  • Environmental risk factors.[17]

History of family structure should include all first-degree relatives (parents, siblings, and children), second-degree relatives (grandparents, aunts, uncles, nieces, nephews, grandchildren, and stepsiblings) or as many members as practical (third degree includes cousins and great grandparents). In describing the family relationship it is essential to not only distinguish maternal from paternal, but also half relationships from full.

For each family member, include chronic medical conditions or concerns along with the age at diagnosis, and relevant interventions and procedures. Cause of death is always valuable to document. It may be necessary to encourage patients to go back to family members to clarify unknown or questionable areas such as cause of premature death. In addition, if the provider suspects an inherited disorder in the family, the patient can communicate that suspicion to relatives and encourage them to seek medical consultation for personal risk assessment or screening.

Demographic information regarding each family member should include gender, age (and age at death, if no longer living) and may include ethnicity and country of origin. Environmental information includes risk factors such as smoking or protective environmental modifications including lifestyle changes, treatments, and surgeries.[17]

If a risk is identified, more detailed information or referral to a genetics professional who will prepare a more comprehensive history may be necessary. A three generation pedigree is ideal but not always realistic in primary care. In the setting of preventive medicine, collection and interpretation of family history information might have its greatest impact when focused on common chronic diseases such as cancer and cardiovascular disease. An algorithm with basic questions that every provider should ask, can guide providers in assessing risk (Figure 1).

Questions to elicit family history of disease.[17] From the National Coalition for Health Professional Education in Genetics (NCHPEG).[17] Available at: Reprinted with permission.

Medical conditions with known genetic/familial components that warrant further exploration include:

  • Heart disease, stroke, diabetes, high blood pressure, high cholesterol;

  • Cancers (colorectal, breast, prostate, endometrial, ovarian, thyroid and skin);

  • Lung diseases (asthma, chronic obstructive pulmonary disease, and emphysema, including tobacco use history);

  • Blood disorders or blood clots;

  • Kidney disease;

  • Mental illness such as depression;

  • Addictions such as alcoholism;

  • Physical abnormalities/birth defects or developmental delays;

  • Infertility or multiple miscarriages;

  • Osteoporosis;

  • Obesity; and

  • Hearing or vision loss.


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