Two swiftly growing areas of medicine are the fields of genetics and genomics.  Genetics is the biological study of all inheritance patterns and gene variation in living organisms, while genomics is more specifically focused on genes and the human genome (Rowe-Kaakinen, Padgett-Coehlo, Steele, Tabacco, & Harmon-Hanson, 2015).  While the study of genetics is centuries old, genomics and the unraveling of deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) has only become possible in the last seventy years as technology has advanced (Donnely, Nersesian, Foronda, Jones, & Belcher, 2017).  In the following paragraphs, I will examine the findings of both a genetic and genomic nursing assessment completed on a friend, S.D., going back three generations in her family.  I will include findings such as her family’s ethnic identity, reproductive history, any growth or development variations, and also her family’s comprehension level regarding genetic pre-disposition and associated risks.  Finally, nursing interventions appropriate for S.D.’s family will be discussed.

Family Members and Health History

S.D. is a 40-year-old female.  She is currently married to her second husband, having been widowed at the age of 28 when her first husband was killed in a motor vehicle collision.  She has two children, both from her second marriage.  Her son is six years old, and her daughter is three years old.  S.D. is the youngest of three children, with both an older brother and older sister.  S.D.’s medical history includes treatment for depression, endometriosis, frequent migraines, a torn rotator cuff in her right shoulder, and cosmetic breast augmentation.  S.D. does not smoke or use recreational drugs, but she does drink alcohol, reporting two to three glasses of wine per week.  S.D. has a history of being obese but recently lost significant weight through a medically supervised weight loss program focusing on nutrition and exercise.  She currently is within a normal range on the body mass index (BMI) scale.

S.D.’s older brother is F.H.  He is 44 years old and currently serving as an officer in the United States Navy.  His past medical history includes a traumatic right femur fracture from a high school football injury, a torn anterior cruciate ligament (ACL) in his right knee, and a recent history of angina that is currently being investigated and followed in a cardiology clinic.  He is divorced with two adult children.  F.H. does not smoke cigarettes, but he does smoke a cigar on occasion.  He also is a social drinker, consuming 4-5 drinks at a time.

S.D.’s older sister is J.N.  She is 42 years old, married, and has four children.  Her past medical history includes frequent migraines, an ectopic pregnancy with subsequent removal of her right fallopian tube and ovary, depression, obesity, and polycystic ovarian syndrome (PCOS).  J.N. does not smoke, drink, or use any recreational drugs.

S.D.’s mother is A.H.  She died in 2015 at the age of 68 as the result of glioblastoma but was relatively healthy before her brain cancer was detected.  A.H. had recently retired from her career as an elementary and middle school teacher.  Her past medical history included “thyroid issues” for which she had her parathyroid glands removed and took an oral synthetic replacement.  She had also had her left hip replaced after a golfing injury where an intoxicated player inadvertently ran her over with his golf cart.

S.D.’s father is J.H.  He is 72 years old and currently lives on his own in the home he shared with A.H.  His past medical history includes treatment for high cholesterol, total knee replacement, prostate cancer, and a recent diagnosis of chronic obstructive pulmonary disease (COPD).  He is a former pack-a-day smoker, but quit approximately ten years ago when he started having “breathing problems.”  A career naval officer, J.H. is still very independent and able to perform all of his activities of daily living (ADL’s) without assistance.

S.D.’s paternal grandparents are M.H., and E.H.  M.H. was her grandfather, who died over twenty years ago “in his sixties” from suspected colon cancer. M.H. did not seek routine medical care, so there is not much information about his health history.  Similarly, E.H. was S.D.’s paternal grandmother.  She died in 2010 at the age of 84.  She had been living in a nursing home with a diagnosis of dementia and suspected Alzheimer’s disease.  Much like her husband, little is known about E.H. as she did not seek routine medical care unless absolutely necessary.  Together, M.H. and E.H. had six children, one of whom died as an infant.  S.D.’s father, J.H., was the third child, with two older brothers, two younger sisters, and one younger brother.

S.D.’s maternal grandparents are M.E., and J.E.  M.E. was her grandfather, who died in the “early eighties” from asbestos exposure.  A career construction worker, he and many of his co-workers suffered from chronic lung problems related to prolonged and repeated inhalation of asbestos.  Little else is known of M.E.’s health history.  J.E. is S.D.’s maternal grandmother.  She is 92 years old and lives in an assisted living facility in Texas where she is still active and primarily independent.  Her past medical history involves bilateral hip replacements, a bowel resection for a bowel obstruction, an abdominal hysterectomy for uterine prolapse, and “cardiac issues” which result in infrequent heart palpitations and dizziness.  Together, M.E. and J.E. had three children, the middle child being S.D.’s mother.

Ethnic Background

S.D. states that her family’s ethnic background history is primarily white or Caucasian, with heavy French-Canadian influence.  However, S.D.’s current husband is from Puerto Rico, and as such her two children have a mixed Hispanic/White ethnicity.  Also, S.D.’s brother, F.H., was married to an African-American woman and his two adult children identify as bi-racial.

Reproductive History

As previously mentioned, S.D. and her husband have two children, ages six and three.  In her previous marriage, S.D. notes that she and her husband had been trying to become pregnant for several years but had been unsuccessful.  They did not attempt to seek any fertility assistance at the time as they felt they still had many years left to try to conceive.  Both of S.D.’s pregnancies were uncomplicated, and she delivered both children via spontaneous vaginal delivery at 39 and 38-week gestations.

As the youngest of three children, S.D. does not recall any mention of her parents struggling with infertility or issues surrounding conception.  Both she and her siblings were benign, healthy pregnancies with an isolated instance of bedrest during her older sister’s gestation.  Likewise, little is known or mentioned about any issues in conception or miscarriage in her grandparent’s medical history.  Her paternal grandparents had six children and her maternal grandparents had three children.

Growth and Development Variations

S.D. is not aware of any significant growth delays in her family history but does express concern over two of her sister’s children.  Both of her sister’s youngest children have been diagnosed as being somewhere on the autism spectrum, with one having speech and social interaction delays and the other suspected of having Asperger’s syndrome.  Each child has been enrolled in vigorous speech and occupational speech therapy, but there are some significant developmental delays.

Family Understanding of Genetic Health Risks

S.D. and her two siblings have some concerns about their risks of developing cancer, specifically the brain, colon, and prostate cancer since there is a demonstrated family history of each.  S.D. also expresses fear that her two children could be genetically at-risk for additional problems with their mixed gene pool of both Hispanic and white contributions.  This is not an unwarranted fear, as research has indicated that Puerto-Ricans, particularly the U.S. born Puerto-Ricans, have higher incidences of cardiovascular disease, hypertension, and obesity than those of non-Hispanic ethnicity (Todorova, Tejada, & Castaneda-Sceppa, 2014).  S.D. and her husband are vaguely aware of these genetic pre-dispositions and make a concentrated effort to encourage healthy eating and frequent movement in their household.  Neither of their two children is currently overweight or obese.

S.D. confides that she and her sister are particularly frightened that brain cancer could strike their family again.  Although some specific neurological conditions have genetic components, research is still emerging on whether or not there are genomic indicators related to brain cancer.  Current studies are underway to see if whole-genome sequencing in childhood brain cancers has a direct correlation to a diagnosis later in adulthood (National Cancer Institute [NCI], 2017).  To her knowledge, S.D. does not believe that anyone in her family has ever had genetic testing performed for any condition.  S.D. states that with the exception of her mother’s brain tumor, most of the health problems her family has encountered have largely been attributed to lifestyle choices, occupational exposure, and failure to seek routine medical care.

Genetic Health Risk Problems and Nursing Intervention Strategies

Aside from the fear of another sudden, devastating brain cancer diagnosis, S.D. explains that her family has no significant concerns about other illnesses or disease processes, either of a random or genetic risk.  S.D. shares that she, her siblings, and her parents were all high school and college athletes, and great emphasis has always been placed on staying active and practicing good nutrition habits.  Their family believes that maintaining a healthy lifestyle is the best way to avoid succumbing to most common illnesses.  S.D. confides that sometimes she questions whether she drinks too much wine, using the alcohol as a coping mechanism after a stressful day.  She also worries that her brother drinks more than he admits.  While there is not a known history of alcoholism in the family, S.D. states that she sometimes abstains from drinking for weeks at a time, just to make certain she does not “need” it as part of her daily routine.

Family health nurses can take an active part in helping individuals and families navigate the complex world of genetically inherited disease processes.  One nursing intervention directly related to this role would be to assist genetically susceptible populations in locating and obtaining genetic counseling, as well as organizing post-test counseling.  Often, a positive confirmation of a genetically-acquired illness can cause profound psychological distress, and family health nurses have the opportunity to provide guidance and education during the initial test results phase (Blix, 2014).  A second nursing intervention related to genetic counseling is to act as an education resource.  Newly diagnosed families are likely to have many questions and concerns related to their genetic disorder.  With the rapid advances in genetic counseling, it is difficult for any nurse to have all the answers to questions families may ask.  However, having the ability to recommend websites, support groups, national organizations, books, brochures, and additional reading materials are methods that have been linked to satisfactory patient feedback (Rowe-Kaakinen et al., 2015).

In conclusion, this exercise allowed me to complete genetic health history on a friend, S.D.  Reaching three generations into the past, I explored the health status of S.D., her siblings, her parents, and her grandparents.  Consideration was given to her family’s ethnic and reproductive history, and any growth or developmental delays were assessed.  S.D.’s knowledge of her family’s genetic susceptibility was questioned, revealing any fears or questions they have about the potential for future genetically-linked health issues.  Finally, two nursing interventions were suggested that were compatible with the family health nurse acting as a genetic counselor.  Though the field of genetic counseling is relatively new and constantly evolving, family health nurses who specialize in this area have the opportunity to help both individuals and families make important decisions regarding future health needs.

References

Blix, A. (2014). Personalized medicine, genomics, and pharmacogenomics: A primer for nurses. Clinical Journal of Oncology Nursing, 18(4), 437-441. https://doi.org/10.1188/14.CJON.437-441

Donnely, M., Nersesian, P., Foronda, C., Jones, E., & Belcher, A. (2017). Nursing faculty knowledge and confidence in teaching genetics/genomics: Implications for faculty development. Nurse Educator, 42(2), 100-104. https://doi.org/10.1097/NNE.0000000000000339

National Cancer Institute. (2017). General information about childhood cancer genomics. Retrieved from https://www.cancer.gov/types/childhood-cancers/pediatric-genomics-hp-pdq

Rowe-Kaakinen, J., Padgett-Coehlo, D., Steele, R., Tabacco, A., & Harmon-Hanson, S. M. (2015). Family health care nursing: Theory, practice, and research (5th ed.). Philadelphia, PA: F. A. Davis Company.

Todorova, I., Tejada, S., & Castaneda-Sceppa, C. (2014). Perspectives of Puero Rican adults about heart health and a potential community program. American Journal of Health Education, 45, 76-85. https://doi.org/10.1080/19325037.2013.875961