Genetic Counseling as a Profession

1. Genetic Counseling as a Profession Kendra Waller, M.S. Board Certified Genetic Counselor

2. Genetic Counselors are • Health professionals with specialized degrees and experience in the area of medical genetics and counseling • Providers of information and support to families • Certified by the American Board of Genetic Counseling

3. Genetic Counseling is • Informational • Nondirective • A source of support by acknowledging parental beliefs, values, and choices

4. Prenatal (pregnancy) Pediatric Adult Research Cancer Newborn screening Public Health Academic Private Government Areas of work

5. What do Genetic Counselors do? • Work with individuals who have members of their family with birth defects or genetic disorders • Work with families who may be at risk for a variety of inherited conditions

6. Pediatric case • Neurofibromatosis Type I • Causes tumors to form on the covering of the nerves on the outside of the body at any time • Skin, eyes, brain • Affects all races, men and women, and ages • It can affect some people so mild that they never know they can have it. • It can affect some people so severe that they have multiple surgeries to remove tumors and can have mental retardation and walking problems. • When a person has NF1, there is a 50% chance that their child with also have NF1

7. Case 1 • K is 9 years old and is being seen because her 3 year old half-sister (dad’s side) has been diagnosed with NF 1. She arrives with her father and paternal grandmother. Her sister has mental retardation and seizures. Her dad is very quiet and most of the talking comes from the grandmother.

9. What does a GC do? • Establish what they know and believe . • Give information. • Start assessing and evaluating how is the family understanding the information. • Address these issues.

10. Case 1 Conclusion • K is affected with NF1. The grandmother is very concerned about the dad. The father is briefly examined and found out that he also is mildly affected. However, he is dealing with the guilt that it that this condition gave his 3 year old daughter mental retardation and seizures.

11. Prenatal case • Advanced Maternal Age • Women 35 and older have a higher chance of having a baby with Down syndrome • Down syndrome causes mental retardation, characteristic face, and sometimes birth defects (heart, stomach) • An amniocentesis in pregnancy can find out if an unborn baby has Down Syndrome. But 1 out of 200 times, the amniocentesis will cause the baby to miscarry. • Down syndrome usually occurs in a family where no one else has it.

13. Case 2 • Mr. and Mrs. X come for genetic counseling because she is 40 years old. This is their first pregnancy and both appear that they are interested in having an amniocentesis.

14. What does a GC do? • Establish what they know. • Give information (1/200 chance of miscarriage). • Evaluate their understanding of the information. • Address any issues.

15. Conclusion Case 2 • Mr. and Mrs. X have been told the risk of miscarriage is “small”. After discussing 1 in 200 chance of loss, that appears high to them. Mrs. X tells the counselor that she has been trying to conceive for 5 years and this pregnancy was achieved using fertility treatments. They decide not to have the amniocentesis because of the chance of losing a healthy baby after waiting so long.

16. Cancer • Familial Adenomatous Polyposis • Affected people have over 100 precancerous polyps (growths) in their digestive system. • If untreated, all affected individuals have colon cancer at an early age (before 35 years). • Treatment is to monitor for polyps and remove the colon when necessary. • If a person has FAP, there is a 50% chance that their child will have FAP.

17. Case 3 • J comes in for counseling and testing of her 11 year old daughter, M. J has been diagnosed with FAP and already has her colon removed. M is reaching the age where she needs to have colonoscopies. Her mother wants her tested for the gene that causes FAP. If she doesn’t have it, then she doesn’t have to go through a colonoscopy.

18. What does a GC do? • Establish what they know. • Give information. • Evaluate how they understand the information • Address the issues.

19. Conclusion Case 3 • Because the benefit of testing outweighs the harm of testing a child in this disorder, J decides to test M. However, J’s insurance will cover the cost of the colonoscopy, but not the cost of testing M for the gene. The counselor writes a letter to the insurance company, and a year later, M undergoes testing through the insurance company. She also has the gene.

20. Myths about Genetic Counseling • Genetic Counselors tell people what decisions to make. NEVER! • Genetic Counselors are trying to help people make “perfect” babies. Serious conditions are involved, not the color of someone’s eyes. • Genetic Counselors will scare you with all the possibilities. We inform so a person can make the best choice for themselves! This info can be scary for many people.

21. How to become a Genetic Counselor • First, you need to have a bachelor’s degree with a strong science and psychology background • Biology, nursing, psychology, public health, social work. • Apply, get accepted, and attend an ABGC approved masters program in genetic counseling • 2 years • Classes in genetics, psychology, statistics, ethics, and counseling. • Most require a thesis • Largest is 25 students, smallest is three students • Apply for Board Certification

23. Resources • National Society of Genetic Counselors (NSGC) • www.nsgc.org • American Board of Genetic Counseling • http://www.abgc.net/genetics/abgc • Kendra Waller • 1-800-745-4363 xt.3513

24. Personal Genetic Counseling • Assess how much you know. • Give information. • Evaluate how you understand the information. • Address issues.