Genetic Assessments: Implications to Nursing

1. Genetic Assessments: Implications to Nursing Ayda G. Nambayan, DSN, RN St. Jude Children’s Research Hospital Memphis, TN

2. Genetic Assessment • Identify the components of a genetic assessment • Describe the importance of genetic assessment in cancer practice • Incorporate genetic assessments into general patient assessment • Construct and interpret a familypedigree

3. Genetic Assessment • Genetic assessment is a tool for providing holistic care to patients and families. • Determine prognostic risk classification • Prescribe risk-based treatment modality

4. Purpose of a Genetic Assessment • Patient: • Determine the genetic risk for cancer • Estimate the degree of risk • Identify which patients may benefit from genetic testing • Health Care Providers: • Medical screening and surveillance • Risk-reduction strategies • Prevention options

10. Components of a Genetic Assessment • Comprehensive health history • Personal • Medical • Pediatric Social History – • environmental exposures • health practices and beliefs • Cognitive Assessment - • literacy level • cultural background • language skills • learning styles and resources used • Family History and Pedigree including ethnicity • Physical Assessment when appropriate

11. Patient Health History • Prenatal • Neonatal • Growth and Development • History of immuno-deficient or metabolic diseases • genetic disorders (autoimmune dz) • All immunizations and past illnesses • Past surgeries and detailed biopsy information (if any) • Unusual exposures to radiation, chemicals, toxic waste and/or industrial processess • Presence of precursor syndromes or lesions • Down’s, Neurofibromatosis, WAGR syndrome

12. Social History Assessment • Parental age, marital status and occupation • Patient’s other caregivers • Number of siblings and ages • School performance and adjustments • Financial status – insurance coverage • Family housing situation • Social and community resources • Cultural backgrounds and belief system

13. Cognitive Assessment • Literacy level including scholastic performance/achievement • Health literacy level of the patient, parents/caregivers • Learning styles and resources

14. Family Pedigree • A pedigree is a symbolic representation of family members, social and biological relationships, lines of descent and reproductive scenarios. • A Family Pedigree yields: • Inheritance patterns • Hereditary cancer syndromes • Identification of high-risk individuals

16. Example Barse, 2003 3 generational pedigree

20. Other Helpful Tips • Start in the middle of the paper to allow enough room. • Names or initials should be should be on the pedigree • Generations are identified by roman numerals I = grand parent generation II = Parental generation III = patient generation • The order of birth of siblings within a family is indicated by the use of arabic numbers • Causes of death or health problems should be noted AML at 40y CRC @35y; death by MVA @45y A T 1A 2C 3P 4T C P

21. Adoptions • Adoptions are shown by brackets [ ] • The pedigree should be dated and signed by the person who is drawing it. Include name, credentials and position. • The family names or initials should be on the pedigree along with the date and the name of the person who is giving the family history

22. How to Construct a Pedigree Chart • Use standard nomenclature for human pedigree and include at least 3 generations • Begin with assessment of the patient - • health status, siblings and their health status • paternal and maternal first cousins G1 2 S3 L4 T5 10m A&W 8yoALL 5yoA&W 2yoA&W 10yoA&W Patient Generation

23. Pedigree Chart – parent generation • Maternal assessment - • health status of the mother • maternal aunts and uncle • Maternal Grandparent Assessment - • health status of the maternal grandparents GF GM 78 Breast @ 65 Prostate @ 62 Died @ 66 F M U1 U3 A2 A4 57 RA 50 A&W 48 MI at 45 54 MI 48 Breast 45 A&W

24. Pedigree Chart – Grandparent generation • Paternal assessment - • health status of the father • paternal aunts and uncles • Paternal Grandparent Assessment – • health status of the paternal grandparents GF GM 45 AMI 55 CRC M F U2 U1 48 MI at 45 45 A&W 46 A&W 8yo accident

27. Sample Pedigree for Construction • A 3 yr. old child found to have “cat’s eye” reflex • Female, youngest of 3 children, • 2 brothers ages 5 and 7 years, essentially healthy • 5-year old brother born with hypospadias, corrected at birth • Mother, 26 years old with a history of retinoblastoma at age 2 years, treated with chemotherapy • Father, 28 years old, essentially healthy • Maternal grandparents • Grandmother, 56 yrs., 7 yr. Breast cancer survivor • Grandfather, 58 years, with benign HTN • Paternal grandparents, 55 and 58 years old, both essentially healthy

29. Sample Pedigree 58 56 breast ca @ 49 55 58 HTN PGF PGM MGF MGM 28 26, RTB @ 2 F M S1 S2 3, cat eye PT 5, hypospadias 7

30. Pedigree for Interpretation 60 breast CA 67 A&W 70 Lung CA @69 66 smoker 24 22 29 32 smokes 35 26 AML @ 24 2 abd. mass 7 1 5

31. Interpretation • History of cancer on both sides • Likely 2nd hand smoke exposure • 2 year old with abdominal mass • Wilms Tumor / Renal Mass • Parasitic Infections • Physical Assessments • Assymmetry • Other congenital anomalies assoc. with Wilms

32. Other Helpful Tips • Ethnicity • Cancer predisposing genes are specific to certain ethnic groups • Ethnicity assessment could facilitate identification of hereditary cancer syndromes

33. Physical Assessment • Always begin with a general appraisal and observation before conducting a systematic assessment. • Photograph any unusual features to have a permanent record. • Pay attention to indications that suggest specific disorders such as recurrent or unusual infections

35. Nursing Role • Identify patients at high risk and provide appropriate referral • Patient and family education and support • Interpret or explain the meaning of genetic results to the patient and family. • Surveillance of at risk patients. • Prepare patients and families for potential impact of genetic information

36. Challenges • Health care services must integrate genetic health care in the continuum of cancer care • The applicability of genetics to all individual with cancer provides opportunities for the nurse to design services that will enhance outcomes for patients and families. • As genetic diagnostics and genetic therapies advance, the nurses’ role will include assessment of the implications of genetic information on the diagnosis and treatment of cancer.

37. If a way to the better there be, it lies in taking a full look at the worst Thomas Hardy

38. Questions????

39. Thank you/ Salamat po!!!!!