Genetics & Genomics: Ethical, Legal & Social Issues Rita Leone, RN, MSN, CMSRN

1. Genetics & Genomics: Ethical, Legal & Social IssuesRita Leone, RN, MSN, CMSRN

2. Introduction • http://www.youtube.com/watch?v=Apjebtal8bQ

3. Objectives • Explore genetic issues that are integrated into (not separate from) all medical care. • Explain how patients’ family members are affected by genetic testing & screening decisions. • Discuss how the diagnosis of disease can help some patients & cause psychological harm for others. • Compare the potential ethical, legal & social issues in genetics/genomics in contrast to health care/medicine in general

4. Key Points: Genetic Information • Helpful vs. Harmful • Complex • Discussion of risks/uncertainties must be attended to with caution & critically • Will inevitably arise in your practice • Affects other family members

5. Genetic Testing: Legal Implications • The discovery of a genetic disease may have legal implications • Should the discovery of a genetic disease that is not causing symptoms now (such as breast cancer or Huntington’s Disease) affect your future ability to gain employment or health insurance coverage? • The Genetic Information Nondiscrimination Act of 2008 (GINA), protects people who have genetic predispositions that may affect their future health

6. Genetic Testing: Ethical Issues • Genetic tests may detect a serious disease in a fetus that will greatly impact its life after birth and impact the lives of caregivers • A pregnant woman who is considering genetic tests must consider her beliefs to help determine the actions she would take if test results are positive • If you are thinking about having genetic tests, be sure that you clearly understand the implications of all possible test results before you make your decision about testing. • Genetic counseling referral to explore the implications of possible test results

7. Case Study #1: Mrs. Z. • 45 y/o, healthy – considering BRCA test • Her mother, Mrs. H, was diagnosed with ovarian cancer last year • Mother: + BRCA1 mutation • Mrs. Z’s maternal aunt died of breast cancer at age 48 & is assumed to have had BRCA1 mutation • Mrs. Z’s sister recently found that she also carries the BRCA1mutation • Considering prophylactic oophorectomy and mastectomy • Mrs. Z is uneasy about being tested… • Thinks a + test result will make her think about cancer all the time • Concerns about losing her health insurance • Has mammograms annually and performs breast self-exams monthly • Had hysterectomy last year for dysfunctional uterine bleeding • Her surgery was performed about a month after her mother’s diagnosis & because of the diagnosis and the patient's age, her ovaries were removed as well. • Shocked that her sister's doctor suggested prophylactic mastectomy • She is not interested in a prophylactic mastectomy

8. Case Study #1: Mrs. Z What are the pros and cons of testing for Mrs. Z? • Pros? • Cons?

9. Case Study #2: Mr. L • 35-year-old patient • Teacher, married, lives with his wife and son • + hx: Irritable Bowel Syndrome. • Small testes are noted upon physical exam • Reports sex-drive • Labs: testosterone level • Further genetic work-up: • Chromosomal study that indicates patient has a 47,XXY karyotype (Klinefelter’s Syndrome) He has an appointment to discuss his results…

10. Case Study #2: Mr. L What are the pros and cons of testing for Mr. L? • Pros? • Cons?

11. Case Study #3: Mrs. J • 42-year-old woman--annual exam • Non-smoker, drinks minimal alcohol • Family hx negative for breast, colorectal & ovarian cancer. • Father + heart disease at age 70, brother: + ETOH • Normal physical exam • Physician received phone call from the patient’s brother prior to the visit, asking her to work the patient up for Charcot-Marie-Tooth disease (CMT) • CMT is an autosomal dominant disorder resulting in peripheral neuropathy • Mrs. J would then has a 50% risk to inherit CMT • Brother states he has seen sister stumble often & thinks she has the disease, which also affects him & their father • Sister refuses to discuss • He does not want the resident to mention that he has called • But wants to ensure that his sister is protected from complications With no physical findings & a conflicting history from the patient & her brother, how does the health care team proceed?

12. Case Study #3: Mrs. J What are the ethical, legal, social & legal implications of testing for Mrs. J?

13. Thank you!