NR 305 Week 3 Focused Family History Write-Up Example

A Focused Family History for Hereditary Colorectal Cancer Risk in a 39-Year-Old Man

Student Name

College of Nursing, Chamberlain University

NR 305: Health Assessment for the Practicing RN

Instructor Name

Month Day, Year

A Focused Family History for Hereditary Colorectal Cancer Risk in a 39-Year-Old Man

Scope and Reason for Narrowing

This write-up is a focused assessment of family history, not a comprehensive health assessment. It was narrowed to family history because Mr. T., a 39-year-old high school teacher who volunteered for the assignment, mentioned during a brief screening conversation that his father had been treated for colon cancer at a young age and that he had never been told whether that affected his own risk. A focused family history is the appropriate first step when a person's main question is about inherited risk, and it goes deeper into three generations of relatives than a comprehensive assessment would. Other systems were not assessed and are not reported; their absence is a decision, not an omission. The interview took place in person over about 40 minutes, and Mr. T. called his mother during the interview to confirm two ages.

The Record, Kept Factual

Proband: Mr. T., age 39, male. Reports no personal history of cancer, colon polyps or bowel symptoms. Has never had a colonoscopy.

Father: Age 71, living. Diagnosed with colon cancer at age 48, treated with surgery and chemotherapy; reports being told his cancer was on the right side of the colon. No recurrence known.

Mother: Age 69, living and well. No cancer history reported.

Brother: Age 42, living. Had a colonoscopy at 40 at a physician's suggestion; Mr. T. believes two polyps were removed but does not know their type.

Sister: Age 35, living and well.

Paternal aunt (father's sister): Age 74, living. Diagnosed with endometrial (uterine) cancer at age 50, treated with hysterectomy.

Paternal uncle (father's brother): Died at 63 of a stroke. No cancer history known.

Paternal grandfather: Died at 58 of stomach cancer, according to family report; Mr. T. is not certain of the diagnosis.

Paternal grandmother: Died at 81, cause reported as old age.

Maternal grandparents: Both died in their eighties of heart disease; no cancers reported.

Children: Two daughters, ages 8 and 6, well.

Ancestry: Reports European ancestry on both sides; no known consanguinity.

How the Questions Were Asked

Family histories are often thin because the questions are too general. Instead of asking whether anyone in the family had cancer, the nurse asked about each relative in turn, starting with parents and siblings and moving outward: whether that person was living, their age or age at death, any serious illnesses and the age at which each was diagnosed, and, for any cancer, which organ it started in. For women on the father's side, the nurse asked specifically about cancers of the uterus and ovaries, which relatives often do not think of as related to colon cancer. The nurse also asked about the maternal side with the same care, so that the absence of cancer there is a recorded finding rather than an unasked question. When Mr. T. did not know an answer, the nurse wrote unknown rather than leaving a blank, and asked whether anyone in the family might know, which led to the call to his mother.

Pedigree Notes

A three-generation pedigree was drawn on paper during the interview using standard pedigree symbols and nomenclature, with the proband marked by an arrow, affected relatives shaded and ages at diagnosis written beneath each affected individual, following the recommendations of the National Society of Genetic Counselors (Bennett et al., 2008). The pedigree shows cancers clustered on the paternal side across two, and possibly three, generations, and no cancers on the maternal side. It also shows gaps: the type of the brother's polyps and the grandfather's actual diagnosis are unknown.

Patterns Across Generations

The pattern that stands out is on the father's side. Three relatives on that side, the father, his sister and possibly the grandfather, had cancers that are associated with Lynch syndrome, an inherited condition that raises the risk of colorectal, endometrial, stomach and several other cancers. Two of those cancers were diagnosed at or before age 50, and they occur in two successive generations. The international clinical criteria for identifying families that may have Lynch syndrome include at least three relatives with Lynch-associated cancers, one a first-degree relative of the other two, affecting at least two successive generations, with at least one diagnosed before age 50 (Vasen et al., 1999). Mr. T.'s family appears to meet or come close to those criteria, depending on whether the grandfather's cancer was confirmed and on whether the father's and aunt's cancers were diagnosed at the stated ages. The write-up does not conclude that the family has Lynch syndrome, which requires genetic testing; it records that the pattern warrants referral for genetic counseling.

A second, simpler pattern applies regardless of genetics. Mr. T. has a first-degree relative, his father, diagnosed with colorectal cancer before age 60. For people in that position, the national task force advises starting colonoscopy early, at 40 or a decade younger than the relative was at diagnosis if that comes sooner, and repeating it at five-year intervals (Rex et al., 2017). His father was 48, so the earlier point, 38, applies. He is already past that age and has not been screened.

What the Nurse Did With the Findings

The nurse told Mr. T. that his family history raised two separate questions for his primary care clinician: whether he should begin colonoscopy now, which his father's history alone supports, and whether he should be referred for genetic counseling, which the pattern on his father's side supports. The nurse suggested that he ask his father whether his tumor was ever tested for features of Lynch syndrome, since a positive result in an affected relative helps guide testing in others, and that he ask his brother for the pathology results of the removed polyps. Mr. T. said he would make an appointment and talk to his father that week. He also asked whether his daughters were at risk, and the nurse explained that genetic counseling would address that question for the whole family.

Limits of the Focused History

The history relies entirely on family report, which is often incomplete or mistaken about cancer types and ages. The grandfather's stomach cancer, in particular, may have been another diagnosis. Confirming the father's and aunt's diagnoses through their medical records would strengthen the assessment. The focused scope also means that Mr. T.'s own symptoms, examination and other risk factors were not assessed and would need to be before any screening decision is made.

References

Bennett, R. L., French, K. S., Resta, R. G., & Doyle, D. L. (2008). Standardized human pedigree nomenclature: Update and assessment of the recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 17(5), 424-433. https://doi.org/10.1007/s10897-008-9169-9

Rex, D. K., Boland, C. R., Dominitz, J. A., Giardiello, F. M., Johnson, D. A., Kaltenbach, T., Levin, T. R., Lieberman, D., & Robertson, D. J. (2017). Colorectal cancer screening: Recommendations for physicians and patients from the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 153(1), 307-323. https://doi.org/10.1053/j.gastro.2017.05.013

Vasen, H. F. A., Watson, P., Mecklin, J.-P., & Lynch, H. T. (1999). New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology, 116(6), 1453-1456. https://doi.org/10.1016/S0016-5085(99)70510-X