NURS 445 Week 2 Pedigree Project Parts 2 and 3 Example

Pedigree Project Parts 2 and 3: Analyzing Two Inherited Risk Patterns and Reflecting on My Genetics Knowledge

Part 2: Pedigree Analysis

Overview

My three-generation pedigree includes 17 relatives across both sides of my family. Most conditions are common in the general population, such as hypertension in my grandmothers and type 2 diabetes in my paternal grandmother. Two patterns, however, stand out because of how early they appeared and how many relatives they affect, and each suggests a possible inherited condition.

The Paternal Pattern: High Cholesterol and Early Heart Disease

On my father's side, my grandfather had a heart attack at 52 and died at 58, my father's brother died of a heart attack at 47, my father had a heart attack at 49 with an LDL cholesterol of 230 mg/dL before treatment and my father's sister was diagnosed with high cholesterol at 30. In my own generation, my brother's LDL was 205 mg/dL at 35 and mine is 190 mg/dL at 34.

This pattern has three features of autosomal dominant inheritance. Affected relatives appear in every generation, both men and women are affected and the trait passes from parent to child without skipping. Familial hypercholesterolemia is an inherited disorder that causes very high LDL cholesterol beginning at birth and raises the risk of early coronary disease, and it is usually inherited in an autosomal dominant pattern, most often through variants in the LDLR gene (MedlinePlus, n.d.). If my father carries such a variant, each of his children had a 50% chance of inheriting it, which fits the finding that two of his three children have very high LDL. My sister has never been tested.

The Maternal Pattern: Breast and Ovarian Cancer

On my mother's side, my mother developed breast cancer at 44 and her sister developed ovarian cancer at 51. My maternal grandfather had colon cancer at 68, which is common at that age and may be unrelated. Breast cancer before 50 and ovarian cancer in a close relative together suggest a possible hereditary breast and ovarian cancer syndrome. Imyanitov and Sokolenko (2026) explain that inherited testing for breast and ovarian cancer still centers on BRCA1 and BRCA2, while other genes, including PALB2, RAD51C, RAD51D and BRIP1, also carry clinical significance. Because neither my mother nor my aunt has been tested, the family does not know whether a variant is present. The appropriate next step is genetic counseling for my mother or aunt, since testing an affected relative first gives the most informative result.

Other Conditions in the Pedigree

Not every condition in the pedigree suggests a single inherited cause. My paternal grandmother's type 2 diabetes, which began at 65, and my maternal grandmother's hypertension and osteoporosis in her eighties are frequent in later life and come from many genes acting together with diet, activity and aging. Their presence still matters, because a family history of type 2 diabetes raises my own risk modestly and reminds me that the cardiovascular risk on my father's side may be compounded by other factors. My maternal grandfather's colon cancer at 68 is also within the usual age range. If more relatives on that side had colon or uterine cancer at young ages, a different hereditary syndrome would need consideration, but one case at 68 does not suggest one. Distinguishing these common, multifactorial conditions from the two patterns above is part of reading a pedigree well: the question is not only what illnesses appear, but whether their number, age at onset and distribution across generations depart from what chance would produce.

Implications for My Family

The paternal pattern has the most immediate implications. If familial hypercholesterolemia is confirmed in my father, cascade testing would identify which relatives carry it. My sister should have her cholesterol checked now. My six-year-old son may also be affected, and because the condition is present from birth, early identification would allow monitoring and, if needed, treatment years before damage builds up in his arteries. For the maternal pattern, the implications depend on testing. If a variant is found, my sister and I would each have a 50% chance of carrying it, and screening and prevention choices would change.

Limits of the Data

This analysis is limited by memory and missing information. My great-grandparents' histories are unknown, causes of death were reported by family members rather than medical records and no one has had genetic testing. These patterns justify referral and testing; they do not establish a diagnosis. Reported ages may be off by a few years, and a relative's "heart attack" may have been another cardiac event. I have noted these uncertainties on the pedigree so that a genetic counselor can weigh them, and I have asked my father whether his cardiologist ever mentioned an inherited cause, since his records could confirm the LDL value I recorded. A pedigree can raise a question that only genetic testing can answer, and asking it is already a form of prevention.

Part 3: Strengths and Growth in My Genetics and Genomics Knowledge

Strengths

Building this pedigree showed me three strengths. First, I can take a careful family history; my years of admission interviews helped me ask about ages at onset and causes of death, the details that made the patterns visible. Second, I understand basic inheritance patterns well enough to recognize an autosomal dominant pattern on paper. Third, I can explain these patterns to patients in plain language, which I practiced while explaining my findings to my sister.

Areas for Growth

I also found three gaps. I was not confident about the difference between genetic testing of an affected relative and testing of an unaffected person, or why testing the affected relative first matters. I knew little about genes beyond BRCA1 and BRCA2 in hereditary cancer until this project. And I have rarely used family history in my own practice; on my unit, we record "family history of heart disease" without asking at what age. That habit means a patient like my father, admitted at 49 with a heart attack, might never have been asked about his brother's death at 47, and the chance to test his children would have passed unnoticed. I also realized I did not know how to explain the difference between a variant of uncertain significance and a pathogenic variant, a distinction patients increasingly bring to nurses after direct-to-consumer testing.

These gaps are common. Dewell et al. (2026) surveyed 85 nurse educators in Canada and the United States with a genomic nursing concept inventory and found an average score of 53%, with subcategory scores from 43% to 64%, and they developed an online learning hub in response. Mewborn et al. (2026) argue that nursing must build literacy in genomics and other omics in education, research and practice as precision health expands. If nurse educators score at that level, staff nurses are likely to have similar gaps.

Learning Goals

I set three goals. First, I will complete an online genomics module for nurses, such as those available through dedicated genomic nursing education resources, within the next three months. Second, I will ask my unit's practice council to add age at onset to the family history section of our admission assessment. Third, I will learn the referral pathway for genetic counseling at my hospital, so I can guide patients whose histories raise concern. Together, these goals would turn this personal project into a change in how I practice. The most personal goal is already under way: I have scheduled cholesterol testing for my son with his pediatrician and asked my father to request a genetics referral. If familial hypercholesterolemia is confirmed, my family will become the kind of cascade-testing story I hope to recognize in my patients' histories.

References

Dewell, S. L., Walker, T. K., Swadas, N. B., Ginn, C. S., & Benzies, K. M. (2026). Linking nursing knowledge and genomics (LINKAGE): Development of a knowledge engagement hub. Journal of Nursing Education. Advance online publication. https://doi.org/10.3928/01484834-20260709-01

Imyanitov, E., & Sokolenko, A. (2026). Breast-ovarian hereditary cancer syndrome: Beyond BRCA1 and BRCA2. Current Oncology, 33(9), 556. https://doi.org/10.3390/curroncol33090556

MedlinePlus. (n.d.). Familial hypercholesterolemia. National Library of Medicine. https://medlineplus.gov/genetics/condition/familial-hypercholesterolemia/

Mewborn, E. K., Heinsberg, L. W., Herbst, C., Carr, K., Cho, M. G., Kim, W., Lustyik, A., Oppong, R., & Conley, Y. P. (2026). Nursing, omics, and artificial intelligence: Precision health's trifecta. Nursing Outlook, 74(6), 102897. https://doi.org/10.1016/j.outlook.2026.102897