1. Trait and Sex Selection: The Arrival of Non-Invasive Prenatal Genetic Testing Jaime King, JD, PhD University of California, Hastings College of the Law Tarrytown Meeting July 26, 2011 Jaime King, JD, PhD University of California, Hastings College of the Law Tarrytown Meeting July 26, 2011

2. Contents of Maternal Blood Serum

3. Non-Invasive Prenatal Diagnosis

4. No Brave New World?

5. Critical Features of NIPD  Non-Invasive  Timing  Comparatively Less Expensive  Non-Invasive  Timing  Comparatively Less Expensive

6. Non-Invasive Prenatal Genetic Diagnosis (NIPD)

7. Current Prenatal Genetic Diagnosis Amniocentesis Chorionic Villus Sampling

8. Non-Invasive Prenatal Diagnostic Testing Timeline  4-5 Weeks - Earliest Detection of cell free fetal DNA (cff DNA)  7-9 Weeks - Commercial Sex Determination  9 Weeks - Reliable Genetic Testing  7-10 Weeks - Reliable Aneuploidy Testing  4-5 Weeks - Earliest Detection of cell free fetal DNA (cff DNA)  7-9 Weeks - Commercial Sex Determination  9 Weeks - Reliable Genetic Testing  7-10 Weeks - Reliable Aneuploidy Testing

9. Current Prenatal Screening Timeline The California Prenatal Screening Program, Patient Booklet, March 2009 Diagnostic Tests - Chorionic Villus Sampling - 10-13 weeks - Amniocentesis - 15+ weeks (preferred)

10. Costs  T21 – Steven Quake predicts testing costs will be ~ $300 for Down Syndrome.  Prenatal Screening ~ $200  Ultrasound ~$300  Amniocentesis and CVS ~ $1500  T21 – Steven Quake predicts testing costs will be ~ $300 for Down Syndrome.  Prenatal Screening ~ $200  Ultrasound ~$300  Amniocentesis and CVS ~ $1500

11. Non-Invasive+Early+Low Cost = High Volume

12. Major Uses  Sex Determination  Diagnosis of Fetal Blood Type  Detection of Fetal Aneuploidy  Diagnosis of Single Gene Disorders  Susceptibility to Multigene and Complex Genetic Disorders  Genome Wide Analysis  Sex Determination  Diagnosis of Fetal Blood Type  Detection of Fetal Aneuploidy  Diagnosis of Single Gene Disorders  Susceptibility to Multigene and Complex Genetic Disorders  Genome Wide Analysis

13. Initial Implementation Challenges

14. Who will offer NIPD? Physicians Biotechnology Companies Both?

15. Commercial Sex Detection

16. What Tests to Offer?

17. How to Inform Patients?

18. 2 Step Informed Consent Model

19. Longer Term Implementation Concerns  Routinization of Prenatal Genetic Testing  Regulating Reproductive Autonomy  Routinization of Prenatal Genetic Testing  Regulating Reproductive Autonomy

20. Thank You