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

2. Introduction

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
increased risk for other cancer types, such as prostate cancer

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?

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!