Genetic Counseling in the Prenatal Setting

1. Genetic Counseling in the Prenatal Setting Adapted from a presentation by: Krista Redlinger-Grosse, Sc.M. Prenatal Genetic Counselor Johns Hopkins Hospital Prenatal Diagnostic Center Adapted for Development of Young Children with Disabilities#872.514 (61)Carol Ann Heath As a genetics counselor, Krista has a BS in Biology with a background in Psychology; Master from JH School of Public HealthAs a genetics counselor, Krista has a BS in Biology with a background in Psychology; Master from JH School of Public Health

2. Genetic Counseling Definition History: Models of Genetic Counseling Process Profession Prenatal Genetic Counseling Process Indications Prenatal Testing Psychosocial Issues Ethical Implications

3. Genetic Counseling How would you define genetic counseling? What experiences (if any) have you had with genetic counseling?

4. Genetic Counseling: Definition �The genetic counselor is a health professional who is academically and clinically prepared to provide genetic services to individuals and families seeking information about the occurrence, of risk of occurrence, of a genetic condition or birth defect. The genetic counselor communicates genetic, medical, and technical information in a comprehensive, understandable, non-directive manner with knowledge of an insight into the psychosocial and ethno cultural experiences important to each client and family. The counselor provides client-centered, supportive counseling regarding the issues, concerns, and experiences meaningful to the client�s circumstances.� American Board of Genetic Counseling One time visit which takes 45 minutes to 2 hours Testing sessions Final counseling session Some follow up on the outcomesOne time visit which takes 45 minutes to 2 hours Testing sessions Final counseling session Some follow up on the outcomes

5. History: Models of Genetic Counseling Eugene Model (�well born�) Sheldon Reed (1947) coined term �Genetic Counseling� Bateson (1906) � Study of hereditary �Advising� people about inherited traits Eugenics Records Office at Cold Spring Harbor Collected data and provided information to affected families Mandatory Sterilization of �mentally defective� (1926) 23 out of 48 United States Look at cluster of traits good- reproduction okay bad- terminateLook at cluster of traits good- reproduction okay bad- terminate

6. Models Medical/Preventive Model 1940�s Retreat from �advisement� with a focus on prevention by offering risk information Decision-Making Model 1950�s � Discovery of cytogenetics of several chromosomal conditions Emphasis on providing information in an interactive process Emphasis on providing information in an interactive process within the current modelEmphasis on providing information in an interactive process within the current model

7. Models Psychotherapeutic Model Provision of information alone is not enough Focus on response and experiences related to genetic conditions Framework Client-centered therapy � Carl Rogers Non-directiveness Considered the current state of the art; Role is to interpret and facilitate Build rapport with the client through an empathetic approachConsidered the current state of the art; Role is to interpret and facilitate Build rapport with the client through an empathetic approach

8. Genetic Counseling Profession Masters Training Programs 1971 Sarah Lawrence College Currently 28 training Programs (USA) National Society of Genetic Counselors 1979 American Board of Genetic Counseling Certification process - 1981 Sarah Lawrence College- 1st program; still inexistence Takes one to one � years Public health emphasis Sarah Lawrence College- 1st program; still inexistence Takes one to one � years Public health emphasis

9. Philosophy of Genetic Services Voluntary utilization Equal Access Client Education Complete disclosure of Information Nondirective counseling Attention to Psychosocial and Affective Dimensions in counseling Confidentiality

10. Process of Genetic Counseling Information Gathering Family and Medical History Risk Assessment Actual risk vs. perceived risk Information Giving �Educators� Psychosocial Counseling

11. Genetic Counseling Contexts Reproductive Issues** Preconception counseling Prenatal Infertility Pediatrics Newborn Screening Specialty Clinics Adult-Onset conditions Specialty Clinics Pre-symptomatic testing: Breast and Colon Cancer, Huntingtons disease

12. Prenatal Genetic Counseling

13. Prenatal Genetic Counseling Preconception Counseling Carrier Screening Family history of genetic condition Risks and Pregnancy Options Pregnancy Advanced maternal Age Abnormal Triples Screen- blood test Family history of genetic condition Fetus at risk for ____ Infertility Genetics of infertility Risks of infertility treatments (ex: ICSI) Abnormal Triples Screen- blood test for down syndrome, trisomy 18, neural-tubal Sperm donors are screened as carriers Abnormal Triples Screen- blood test for down syndrome, trisomy 18, neural-tubal Sperm donors are screened as carriers

14. Impact of Prenatal Counseling/Diagnosis Bonding (Klaus and Kennel, 1982) Influence bond formation between mom and baby Planning the pregnancy Confirmation and acceptance of the pregnancy Acceptance of the baby as a separate person Timing of prenatal information Pregnancy �on hold� until results of testing (Rothman, 1986)- tentative pregnancy

15. Prenatal diagnostic Techniques Amniocentesis Chorionic Villus Sampling (CVS) Ultrasound Maternal blood multiple marker screening Chromosomes Enzymes DNA Testing AFP- protein made by liver Chromosomes Enzymes DNA Fetal Anatomy Down syndrome, Neural Tube Defects, trisomy 18 Amniocentesis- conducted at 16 to 18 weeks- needle with a sonogram; remove fluid with baby�s skin cells; 1/300 chance to lose baby due to procedure- can get an infection or water can break AFP- protein made by liver; neural tube defects Chorionic Villus Sampling- earlier in the pregnancy at 10 to 12 weeks; higher risk to baby 1/175 chance to lose baby; remove small piece of placenta either vaginally or abdominally Ultrasound- 16 to 18 weeks; neural tube; limbs, brain, kidneys, bladder, heart; profile of placenta can be taken from umbilical cord or amniotic fluid In Maryland 23 weeks is the cutoff for selective termination because no one will do afterwards; no specific legal cutoffAmniocentesis- conducted at 16 to 18 weeks- needle with a sonogram; remove fluid with baby�s skin cells; 1/300 chance to lose baby due to procedure- can get an infection or water can break AFP- protein made by liver; neural tube defects Chorionic Villus Sampling- earlier in the pregnancy at 10 to 12 weeks; higher risk to baby 1/175 chance to lose baby; remove small piece of placenta either vaginally or abdominally Ultrasound- 16 to 18 weeks; neural tube; limbs, brain, kidneys, bladder, heart; profile of placenta can be taken from umbilical cord or amniotic fluid In Maryland 23 weeks is the cutoff for selective termination because no one will do afterwards; no specific legal cutoff

16. Prenatal Diagnostic Techniques Amniocentesis Chorionic Villus Sampling Maternal Serum Multiple Marker Screening Ultrasound

17. INDICATIONS

18. Advanced Maternal Age Definition: Women over the age of 35 Slightly increased risk for chromosome condition Down syndrome- extra #21 Trisomy 13 and 18- extra 13 & 18 severe Sex chromosome conditions Offered: CVS or Amniocentesis and Detailed Ultrasound Slight increase for chromosomal defects Sex chromosome conditions- #23 Kleinfelders xxy (associated with infertility)Slight increase for chromosomal defects Sex chromosome conditions- #23 Kleinfelders xxy (associated with infertility)

19. Advanced Maternal Age

20. Abnormal Triple Screen Developed in 70�s (AFP) and early 80�s (�Triple� Screen) �Offered� to all pregnant women SCREENING TEST!!! 16-18 weeks Down syndrome Trisomy 18 Neural Tube Defects Three markers: AFP, hCG, uE3 Offered: Ultrasound and/or amniocentesis

21. Ultrasound finding May/may not be associated with chromosome condition or known genetic condition Offered: Amniocentesis (possibly CVS)

22. Family history (previous pregnancy)genetic condition Known genetic condition in family Single gene disorders Autosomal Recessive and Autosomal Dominant conditions, X-Linked conditions Slide of inheritance Examples: Cystic Fibrosis, Muscular Dystrophy, Sickle Cell Anemia

23. Family history cont. History of unknown �condition� Previous child with developmental delay and additional medical concerns but no diagnosis History of recurring miscarriages/infant deaths Offered: CVS/Amniocentesis (or Preimplantation Genetic Diagnosis (PGD)?)

24. Carrier Screening Ashkenazi Jewish Population Tay-Sachs (1/30), Canavans Disease (1/40), and Gaucher Disease (1/15) Caucasian Population Cystic Fibrosis (1/25) African-American Population Sickle Cell Anemia (1/10) Greek/Mediterranean/Asian Population Thalassemias Ashkenazi Jewish Population- develop normally until 5- die by 7 years Tay-Sachs (1/30), Canavans Disease (1/40), and Gaucher Disease (1/15) Caucasian Population Cystic Fibrosis (1/25)- offered to all caucasians African-American Population Sickle Cell Anemia (1/10) all are screened for this blood condition; very painful Greek/Mediterranean/Asian Population Thalassemias � anemia;; low iron, need transfusion Ashkenazi Jewish Population- develop normally until 5- die by 7 years Tay-Sachs (1/30), Canavans Disease (1/40), and Gaucher Disease (1/15) Caucasian Population Cystic Fibrosis (1/25)- offered to all caucasians African-American Population Sickle Cell Anemia (1/10) all are screened for this blood condition; very painful Greek/Mediterranean/Asian Population Thalassemias � anemia;; low iron, need transfusion

25. Maternal Exposures Medications- lower dose in pregnancy Ex: Seizure medications, Vitamin A Drug-use Ex: Heroin, Cocaine, Alcohol Other Maternal diabetes

26. Prenatal Counseling: Process Information Gathering Assess interests/needs Patient�s �agenda� Family History and Pregnancy History ? Additional risks other than indication Risk Assessment Perceived risk Information Giving Diagnosis/Indication related Prenatal testing options Psychosocial Counseling

27. Psychosocial Counseling: Issues Patient�s agenda Personal Values Meaning of Pregnancy Infertility vs. unwanted pregnancy Social Support Past Social History Perceived Risks/Benefits of Anxiety Decision-making regarding: Testing Test result Pregnancy

28. To have or not to have???? What do you think are some of the factors to have or not to have prenatal diagnosis? Evans et al, 1990: Kolker & Burke, 1993; Marteau, 1995; Van Spijker, 1992

29. Decision-making factors Faith/Spirituality Personal Values �What�s given� Information Experience with disability Beliefs on pregnancy termination Partner and family support Past experience with prenatal testing Friends and family Fears of test Tolerance for ambiguity Need for reassurance Anxiety given diagnosis Doctor�s �advice�

30. Abnormal Prenatal Results Counseling issues Crisis and grief counseling Support and facilitate decision-making Provide information/resources/support groups Outcome of Pregnancy Continuation of pregnancy Termination Adoption

31. Prenatal testing: Ethical Implications What do you think are some of the ethical issues surrounding prenatal testing?

32. Ethical Issues: Disability Medical Model of Disability Implied eugenic Thrust? (Hubbard,1988) Concern by advocates for persons with disabilities, feminists, and bioethicists At the core of the medical model view is that �disability must be prevented, because disabled people cannot function within existing society� Attribution Theory �The more help will be given when dependency is attributed to factors such as lack of ability on the victim�s part (internal but uncontrollable cause) than when it is attributed to lack of effort on the victim�s part (internal and controllable cause).� Marteau and Drake (1995)

33. Ethical Issues When to say when How much testing can/will we offer? Where will we draw the line? Sex selection �Perfect� baby Presymptomatic testing prenatally Ex: Breast cancer

34. Resources National Society of Genetic counselors (NSGC) http//www.nsgc.org Phone: (610) 872-7608 American Board of Genetic Counseling (ABGC) http://www.faseb/org/genetics/abgc/abgcmenu.htm Phone:(301) 571-1825 Genetic Alliance (nonprofit organization) http://www. Geneticalliance.org

35. Resources Helpful books: Baker, D., Schuette, J., and Uhlmann, W. (eds) (1988) A Guide to Genetic Counseling. New Your: Wiley-Liss Clarke, A. (ed) (1994) Genetic Counseling: Practice and Principles. London: Routledge. Parens, E., and Asch, A. (eds) (2000). Prenatal Testing and Disability Rights. Washington, DC: Georgetown University Press. Rapp, R. (1999). Testing Women, Testing the Fetus. New York: Routledge.

36. Citations Black, R. (1992). Seeing the baby: The impact of ultrasound technology. Journal of Genetic Counseling. 1 (1), 45-54. Evans, M., Bottoms, S,. Critchfield, G., Greb, A,. & LaFerla, J. (1990). Parental perception of genetic risk: correlation with choice of prenatal diagnostic procedures. International Journal of Gynecology-Obstetrician, 31, 25-28. Hubbard, R. (1988). Eugenics: New tools, Old Ideas. Women Health, 12(1-2), 225-235. Klaus, M. and Kennel, J. (1982). Parental Infant Bonding. CV Mosby co. Kolker, A., & Burke, B. (1994). Prenatal Testing: A Sociological Perspective. Westport, CN: Bergen and Harvey

37. Citations Lippman, A. (1991). Prenatal genetic testing and screening: Constructing needs and reinforcing inequities. American Journal of Law and Medicine, 17, 15-49. Mataeu, T.,& Drake, H. (1995) Attributions for disability: The influence of genetic screening. Social Science and Medicine, 40(8), 1127-1132. Rothman, B. (1986). The tentative pregnancy. New York: Viking. Van Spijker, H. (1992) Support in decision-making processes in the post-counseling period. Birth Defects: Original Article Series, 28(1), 29-35