FACULTY RESOURCE CASE GUIDE CASE: JEFF

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Julianna Clarke
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1 FACULTY RESOURCE CASE GUIDE CASE: JEFF

2 CASE DESCRIPTION: Career military male, age 41, whose father was diagnosed with breast cancer several years ago. Father had genetic testing and found to harbor a BRCA2 deleterious mutation. Jeff was informed of his father s results but ignored his father s advice to be tested because he is nothing like his father, takes good care of himself physically, and thought that his father was mistaken and breast cancer genes could only be transmitted through a woman. He completed the ACT For Health breast risk assessment questionnaire as part of his annual WebHA survey, which recommended that he would need follow-up with his healthcare provider. He thought the ACT For Health finding was wrong, so he started investigating using the internet so that he could be reassured. However, he learned on the internet that BRCA2 gene mutations can be inherited from either parent which meant his father was right and he may have inherited this mutation from him. He kept his father s mutation information from his wife as he thought it was not relevant to him or for their children, but he recently told his wife about his concerns based on his internet investigation. He is presenting at his annual active duty military physical with his wife accompanying him. CASE OBJECTIVES: Construct a three generation pedigree from the information provided by the client/family. Describe the risks for cancer in men and women with a BRCA2 mutation. Evaluate client s comprehension of the possible implications of the family BRCA2 mutation for healthcare and family decisions. Identify the ethical, legal and psychosocial issues associated with a BRCA2 mutation in the family. Identify the ethical, legal and psychosocial issues associated with genetic testing in children Explain the issues to consider associated with the use of assisted reproductive technology. Explain the risks of discrimination for individuals in the military undergoing genetic testing for an inherited predisposition syndrome. Describe the option for predisposition genetic testing for a known mutation in the family. Identify three genetic and/or genomic resources on Hereditary Breast/Ovarian Cancer (HBOC). Utilize applicable guidelines to provide recommended best care options (i.e., United States Prevention Services Task Force (USPSTF), National Comprehensive Cancer Network (NCCN), Evaluation of Genomic Applications in Practice and Prevention (EGAPP). Describe one resource for finding genetic healthcare professionals where you could refer this patient.

3 SUGGESTIONS FOR HOW TO USE G3C: This is an ambulatory care outpatient clinical encounter of a client accompanied by his wife who presents to his primary care provider for his annual active duty military physical. Jeff is a career military male, age 41, whose father was diagnosed with breast cancer several years ago. Father had genetic testing and found to harbor a BRCA2 deleterious mutation. Jeff was informed of his father s results but ignored his father s advice to be tested because he is nothing like his father, takes good care of himself physically, and thought that his father was mistaken and breast cancer genes could only be transmitted through a woman. He completed the ACT for Health Breast Risk assessment questionnaire as part of his annual WebHA survey, which recommended that he would need follow-up with his healthcare provider. He thought the ACT for Health finding was wrong, so he started investigating using the internet so that he could be reassured. However, he learned on the internet that BRCA2 gene mutations can be inherited from either parent which meant his father was right and he may have inherited this mutation from him. He kept his father s mutation information from his wife as he thought it was not relevant to him or for their children, but he recently told his wife about his concerns based on his internet investigation. The student should be instructed to enter the virtual clinic and begin by reviewing the case materials located in the clients folder. When ready the student progresses to the client encounter and begins by selecting a question to ask the client. Additional student activities associated with the specific questions the students ask the client are located below the client video. Supplementary client materials including those the user gathers during the encounter are located by icons in the box to the right and can be viewed at anytime during the case. SUGGESTED SUPPLEMENTAL STUDENT ACTIVITIES: BRCA2 Cancer Risks Read and describe the risks for cancer in men and women with a BRCA2 mutation. Describe how to explain these potential risks to Jeff based on the BRCA 2 mutation that was found in his father. References: Antoniou et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. AJHG, 72, Gene Reviews: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer National Cancer Institute PDQ Genetics of Breast/Ovarian Cancer

4 BRCA2 Cancer Risk Management List the current cancer risk management guidelines for men with a BRCA2 mutation. Reference: National Cancer Institute PDQ Clinical Management of BRCA Mutation Carriers Values Clarification Exercises Note: Journaling may assist students during the viewing of G3C scenarios to explore how they view issues raised, how they feel about the patients perspective, how their own values/beliefs might influence patients decisions, and recommendations for interventions. Consider personal values influencing genetic testing in children for adult onset cancer susceptibility Discuss their perspective on genetic testing in children Ethical, Legal and Social Implications Identify critical issues associated with documentation of genetic test results in a medical record for active duty military personnel. List two groups that are not protected from genetic discrimination by the Genetic Information Nondiscrimination Act (GINA) federal legislation passed in Describe Jeff's potential risk of discrimination in the military if he chooses to undergo genetic testing and is found to have the BRCA2 mutation in his family. References: Civilian and Military Genetics: Nondiscrimination Policy in a Post-GINA World Some Health Systems Not Covered by GINA t National Cancer Institute PDQ Cancer Genetics Risk Assessment and Counseling

5 Systematic Family History Collection Describe how to systematically collect and analyze Jeff's family health history using standard pedigree symbols and nomenclature. References: National Cancer Institute: Determining Cancer Risk, Analysis of the Family History Bennett, R. L., Steinhaus French, K. A., Resta, R. G., & Lochner Doyle, D. (2008). Standardized human pedigree nomenclature. Update and Assessment of the Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling., 17, %20Standardized%20Human%20Pedigree%20Nomenclature%20- %20Update%20and%20Assessment%20of%20the%20Recommendations%20of%20the%20Nati onal%20society%20of%20genetic%20counselors.pdf Pedigree Construction Construct a three generation pedigree for Jeff based on his family history information using the Surgeon General's My Family Health Portrait Tool at Describe how drawing out the pedigree helps identify patterns in the health history and why it is important to use standard pedigree symbols. Learner Instructions for Using the My Family Health Portrait Tool at Although this tool can be used by health care providers, the primary purpose is for an individual to create a family history diagram based on their own family history. The health information and family history questions use lay language and are asked in the format one asks of an individual. For example, "How many sisters do you have." The learner should answer the questions from the perspective of the person in the case study. For "Date of Birth" on the initial screen, subtract the age of the individual in the case study from the current year for the year of birth and use 01/01 for the month and year. Unless stated otherwise in the case study, assume no one in the case study is adopted, born a twin, or has parents related other than marriage. Reference: Wattendorf, D. J., & Hadley, D. W. (2005). Family history: the three-generation pedigree. [Review]. American Family Physician, 72(3), Risk Communication Based on information about risk communication, identify a risk communication strategy appropriate for communicating with Jeff about his potential BRCA2 mutation risk. Develop questions they might ask to evaluate Jeff's understanding of the potential implications of him carrying a BRCA2 mutation.

6 References: Liede et al. (2000). Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. AJHG, 67, National Cancer Institute PDQ Education and Counseling About Risk/Risk Communication SUGGESTED CLASSROOM DISCUSSION POINTS: Mutations in BRCA2 increase the risk for breast, ovarian, prostate, and gastric cancers as well as melanoma. Mutations in BRCA2 are transmitted in a dominant fashion. Relatively uncommon genetic disorders can dramatically increase the risk of heart disease and its occurrence at an earlier age. A family history may identify individuals who would benefit from genetic education, counseling and genetic testing. Interventions are effective at reducing morbidity and mortality for high risk individuals. Despite federal protections such as the Genetic Information Nondiscrimination Act (GINA), genetic testing for cancer susceptibility for active duty military personnel has risks that need to be considered because they are not protected by GINA. WHICH ESSENTIAL GENETIC/GENOMIC COMPETENCIES DOES THIS CASE SCENARIO HELP TO TEACH? Professional Responsibilities Domain Recognize when one s own attitudes and values related to genetic and genomic science may affect care provided to clients. Examine competency of practice on a regular basis, identifying areas of strength, as well as areas in which professional development related to genetics and genomics would be beneficial. Incorporate genetic and genomic technologies and information into registered nurse practice. Advocate for the rights of all clients for autonomous, informed genetic-and genomicrelated decision-making and voluntary action.

7 Professional Practice Domain Nursing Assessment: Applying/Integrating Genetic and Genomic Knowledge Demonstrates an understanding of the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness. Demonstrates ability to elicit a minimum of three generation family health history information. Constructs a pedigree from collected family history information using standardized symbols and terminology. Collects personal, health, and developmental histories that consider genetic, environmental, and genomic influences and risks. Assesses clients knowledge, perceptions, and responses to genetic and genomic information. Develops a plan of care that incorporates genetic and genomic assessment information. Identification Identifies clients who may benefit from specific genetic and genomic information and/or services based on assessment data. Defines issues that undermine the rights of all clients for autonomous, informed genetic- and genomic-related decision-making and voluntary action. Referral Activities Facilitates referrals for specialized genetic and genomic services for clients as needed. Provision of Education, Care, and Support Provides clients with interpretation of selective genetic and genomic information or services. Provides clients with credible, accurate, appropriate, and current genetic and genomic information, resources, services, and/or technologies that facilitate decision-making. Uses health promotion/disease prevention practices that: Consider genetic and genomic influences on personal and environmental risk factors. Incorporate knowledge of genetic and/or genomic risk factors

8 WHICH ESSENTIAL GENETIC/GENOMIC COMPETENCIES FOR NURSES WITH GRADUATE DEGREES DOES THIS CASE SCENARIO HELP TO TEACH? Professional Practice Risk Assessment and Interpretation All nurses with graduate degrees in nursing Identify clients with inherited predispositions to diseases as appropriate to the nurse s practice setting. Nurses with graduate degrees functioning in APRN roles also Analyze a pedigree to identify potential inherited predisposition to disease. Estimate risks for Mendelian and multifactorial disorders in affected families as appropriate. Interpret the findings from the physical assessment, family history, laboratory findings, diagnostic tests, and/or radiology results that may indicate genetic/genomic disease, disease risk, or the need for a genetics/genomics referral. Genetic Education, Counseling, Testing, and Results Interpretation All nurses with graduate degrees in nursing Incorporate clients attitudes, values, and beliefs rooted in varying ethnic, cultural, social, and religious backgrounds when communicating genetic/genomic information. Provide genetic/genomic information that is appropriate to client's level of health literacy and numeracy. Educate clients about possible risks, benefits, and limitations of genetic testing and/or therapy. Provide anticipatory guidance to assist clients in the decision-making process related to genetics/genomics. Assess the influence of genetic/genomic risk and disease on family communication and functioning. Assess the clinical and psychosocial outcomes, including benefits, limitations, and risks of genetic/genomic information and/or therapies, for clients. Support client coping and client use of genetic/genomic information in promoting health, reducing risk, managing symptoms, and/or preventing illness. Nurses with graduate degrees functioning in APRN roles also Provide genetic/genomic education and counseling appropriate to practice setting; Communicate results of genetic/genomic screening and/or testing at a level that clients can understand. Clinical Management Nurses with graduate degrees functioning in APRN roles Manage care of clients, incorporating genetic/genomic information and technology (e.g., risk-based genetic screening and testing, prescription of pharmacogenomicbased drugs, gene-targeted therapy, and use of genetic/genomic information in symptom management).

9 Ethical, Legal and Social Implications (ELSI) All nurses with graduate degrees in nursing Facilitate ethical decision-making related to genetics/genomics congruent with the client's values and beliefs. Apply ethical principles when making decisions regarding management of genetic/genomic information identified through clinical or research technologies. SUGGESTED READINGS AND RESOURCES: Evidence Reviews Antoniou et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. AJHG, 72, Rebbeck et al. (2009). Meta-analysis of risk reduction estimates associated with riskreducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. JNCI, 101, PDQ Genetics of Breast/Ovarian Cancer Family History Assessment Bennett, R. L., et al. (2008). Standardized human pedigree nomenclature. Update and Assessment of the Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 17, Lindor, N.M., et al. (2008). Concise handbook of familial cancer susceptibility syndromes - second edition, Journal of the National Cancer Institute Monographs, 38, Surgeon General s Family History Tool Guidelines and Tools to Assess Family History for Common Diseases NIH State-of-the-Science Conference Statement: Family History and Improving Health Genetics of Breast/Ovarian Cancer Gene Reviews: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer

10 Genetic Testing for Cancer Susceptibility Liede et al. (2000). Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. AJHG, 67, Understanding Cancer Series: Gene Testing Genetic Testing for Breast and Ovarian Cancer Risk: It's Your Choice Genetic Testing in Children American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. (1995). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet, 57, Wertz, D.C., et al. (1994). Genetic testing for children and adolescents. Who decides? JAMA, 272, Field, M., et al. (2007). Inherited cancer susceptibility syndromes in paediatric practice. J Paediatr Child Health, 43, Tischkowitz, M., Rosser, E. (2004). Inherited cancer in children: practical/ethical problems and challenges. Eur J Cancer, 40, Fanos, J.H. (1997). Developmental tasks of childhood and adolescence: implications for genetic testing. Am J Med Genet, 71, Bernhardt, B.A., et al. (2003). Parents' and children's attitudes toward the enrollment of minors in genetic susceptibility research: implications for informed consent. Am J Med Genet A, 116, Resources for Finding a Genetic Healthcare Professional Cancer Genetics Services Directory

11 Risk Assessment Panchal et al. (2008). Selecting a BRCA risk assessment model for use in a familial cancer clinic. BMC Medical Genetics. 9, National Cancer Institute PDQ Cancer Genetics Risk Assessment and Counseling Treatment of Male Breast Cancer General Information about Male Breast Cancer When to Consider Genetic Testing Robson et al. (2010). American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology, 28, American Society of Clinical Oncology (2003). American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. Journal of Clinical Oncology, 21, Jeff's Family Maria, wife, age 39 in good health, a vegetarian, runner. A son who is 10 years old name Noah, in good health and in school. A daughter who is 5 named Luna in good health and started school this year. A sister who is currently 37 who was diagnosed with unilateral breast cancer at age 45. A brother age 42 who Jeff thinks may have had a minor skin cancer but does not know the details. Mother aged 70 in good health. She is adopted so there is no information on any of her biologic family members. Father currently aged 72 was diagnosed with breast cancer at age 69 and was found to have a BRCA2 mutation. Paternal aunt (father s sister) is currently 68, she was diagnosed and treated for breast cancer at age 41. Paternal cousin, daughter of the above aunt is 42 and was diagnosed with ovarian cancer at age 40. Paternal uncle, age 69 who is alive and well with no history of cancer. A second paternal uncle currently age 70 who was diagnosed with prostate cancer at age 63. Paternal grandmother who died at age 75 of heart disease but had no history of cancer Paternal grandfather who died at age 58 shortly after his diagnosis of gastric cancer

12 *Pedigree d. 58 dx. gastric 58 d. 75 heart dis dx. BR dx. BR dx. OV 40 42? skin ca NOS 47 dx. BR

So how much of breast and ovarian cancer is hereditary? A). 5 to 10 percent. B). 20 to 30 percent. C). 50 percent. Or D). 65 to 70 percent.

So how much of breast and ovarian cancer is hereditary? A). 5 to 10 percent. B). 20 to 30 percent. C). 50 percent. Or D). 65 to 70 percent. Welcome. My name is Amanda Brandt. I am one of the Cancer Genetic Counselors at the University of Texas MD Anderson Cancer Center. Today, we are going to be discussing how to identify patients at high