1. Analysis of Genetic Disease Testing The Importance of Newborn Screening Ranimol N. Fromer Public Health Policy Analyst Michigan Department Health Department

2. The problem: Undetected Genetic Diseases  “One in every 500 to 600 births are found to have a hidden genetic disease” (Michigan Department of Community Health [MDCH], 2014)  MDCH (2014) notes that now over 50 disorders are detectable by Newborn Screening (NBS) and can be manageable if identified soon after birth  Early detection is key to prevent permanent disability, damage, illness or death (MDCH, 2014).  Assistance with disease management can be given to the child and the parents of the child

3. The solution: Policy of Newborn Screening (NBS)  Developed in the 1960s to screen for only one disorder (MDCH, 2014)  Mandatory examination for all infants  Simple procedure  Virtually no risk of complications from the procedure itself  Uses dried blood spots to identify rare and early treatable disorders  MDCH (2014) notes the diseases detectable by NBS include, but are not limited to:  Hemoglobinopathies  Amino acids disorders  Fatty acid oxidation disorders  Organic acids disorders  Endocrine disorders

4. Examples of Genetic Diseases Detectable by NBS  Phenylketonuria  Lack of enzyme that breaks down protein  If PKU is not treated, a child might develop: Hyperactivity, Restlessness, Seizures, Behavior problems, Mental retardation  PKU can be treated. Treatment is life-long and includes:  Special baby formula low in phenylalanine.  Managed diet low in phenylalanine  Prompt and careful treatment helps children with PKU live the healthiest lives possible.  Information here is according to the MDCH (2011) informative brochure on Phenylketonuria  Galactosemia  Lack of enzyme that breaks down sugar  If galactosemia is not treated, a child might develop: Liver failure, Mental retardation, Poor growth, Cataracts (cloudiness) in the eyes  Galactosemia can be treated. Treatment is life-long and includes:  Restriction of milk or foods that have galactose in them  Prompt and careful treatment helps children with galactosemia live the healthiest lives possible.  Information here is according to the MDCH (2011) informative brochure on galactosemia

5. NBS Policy Evaluation Economic Efficiency  Testing supplies are purchased for a discount in bulk by hospitals (MDCH, 2014)  Unused dried blood spots are sent to the Michigan’s biobank for (MDCH, 2014):  Storage  Research through Michigan’s Biotrust initiative  Due to the low cost and high benefit of NBS, use of this policy has grown through the years:  From 1965 to 2012 “over 6.6 million infants have been screened with over 5,100 newborns diagnosed with and treated for genetic diseases in Michigan” (MDCH, 2012)  In 2012 alone (MDCH, 2012):  111,509 infants were screened  Roughly 5,300 newborns tested positive screening  274 newborns were identified with a disorder

6. NBS Policy Evaluation Equity Through Fiscal Equivalence  Cost is approximately $100 per infant exam in Michigan (MDCH, 2014)  Expense is included in baby’s hospital fees  Usually covered by insurance  Fee can be waived for families with financial hardship  Covers test, laboratory, associated follow-up and treatment fees  One simple test saves families in unmeasurable amounts in health care costs in the future by early treatment

7. NBS Policy Evaluation Redistribution Equity  Mandatory exam that screens all babies born for low test fee  Includes medical management  Covered by insurance and Medicaid  NBS fee can also be waived for families with financial hardship (MDCH, 2014)  Making exam accessible to all families regardless of insurance/income level

8. NBS Policy Evaluation Accountability  NBS is mandated by all states nationwide (Baby’s First Test, 2014)  Tests millions babies yearly  Required by law that all babies are screened  Protects the future health of individuals as early as possible  Good start in life – on the right track in health  Early treatment can increase longevity and increase quality of life  “200 Michigan babies test positive for a condition through the NBS each year” (Baby’s First Test,2014)  Prior to any dangerous symptoms doctors can administer treatment

9. NBS Policy Evaluation Morality Conformance  Health care professionals inform parents of the policy  Procedure  Benefits  Research possibility  Consented procedure  Parents sign form  The procedure is waived in the case of religious beliefs  Residual samples are kept confidential in future research

10. NBS Policy Evaluation Adaptability  All babies in the United States are screened 24-48 hours after birth  Babies born outside of the hospital are also required to complete this screening  Each state tests for their own variety of genetic conditions  Non-invasive procedure that can easily be performed on any infant

11. Identified Alternative Policies  Chorionic Villus Sampling (U.S. National Library of Medicine, 2014)  Test done during early pregnancy to determine possible health problems with the fetus  Removes a sample of chorionic villi from the placenta  Amniocentesis (U.S. National Library of Medicine, 2014)  Test done during later in pregnancy to look for birth defects and genetic problems in the developing fetus  Removes a small amount of fluid from the amniotic sac around the fetus

12. Evaluate Alternative Policies  Chorionic Villus Sampling (Emory University School of Medicine, 2008)  Chromosome results are greater than 99% accurate  Does not detect open neural tube defects  Positive results are identified early in the pregnancy  Provides option to terminate the pregnancy  Amniocentesis (Emory University School of Medicine, 2008)  Chromosome results are greater than 99% accurate  Detection rate for open neural tube defects may be as high as 95-99%  Positive results prepare parents for their child’s future

13. Comparison of Alternative Policies Chorionic Villus Sampling  Identifies genetic issues  Chromosome abnormalities  Does not detect open neural tube defects  Procedure commonly done during weeks 10 - 12 of a pregnancy  Proactive testing  Opens option for termination of pregnancy  Invasive procedure  Risk of fetal loss  Limited use: mainly for at risk parents’ with family history of genetic disorders  Used for diagnosis  no further testing required  High cost  May not be affordable to low income population Amniocentesis  Identifies genetic issues  Chromosome abnormalities  Does detect open neural tube defects  Procedure commonly done during weeks 15 - 22 of a pregnancy  Proactive testing  Leaves time to plan for medical care for baby  Invasive procedure  Risk of fetal loss  Limited use: mainly for at risk parents’ with family history of genetic disorders  Used for diagnosis  no further testing required  High cost  May not be affordable to low income population  Identifies genetic issues  Genetic disorders  Does not detect open neural tube defects  Procedure done 24-48 hours after birth  Proactive screening  Early detection of treatable genetic disease  Non-Invasive procedure  Virtually no risk of infant loss  Universal use: all infants in Michigan are tests regardless of family history  Used for detection  positive result requires further testing  Low cost  Available to all regardless economic status Newborn Screening

14. Monitoring The Implemented Policy  NBS started with testing one disorder in 1965 and since grown to testing for over 50 disorders in Michigan.  “Through 2012, over 6.6 million infants have been screened”  “Over 5,100 diagnosed with diseases”  Additional conditions have been added to the NBS panel for screening  NBS testing has lead to several initiatives within the public health sector  Michigan was awarded grants for further development for the NBS testing and research  Programs to provide educational outreach and training for health professionals  Michigan’s BioTrust initiative started in 2009  Uses residual dried blood spots from NBS for research and continues to progress (CITE1)  Assists with policy development

15. References  Baby’s First Test. (2014). Conditions Screened By State. Retrieved on October 10, 2014 from http://www.babysfirsttest.org/newborn-screening/states/michigan http://www.babysfirsttest.org/newborn-screening/states/michigan  Emory University School of Medicine. (2008). About Amniocentesis. Retrieved on October 14, 2014 from http://genetics.emory.edu/docs/Emory_Human_Genetics_Amniocentesis.PDF http://genetics.emory.edu/docs/Emory_Human_Genetics_Amniocentesis.PDF  Emory University School of Medicine. (2008). About Chorionic Villus Sampling. Retrieved on October 14, 2014 from http://genetics.emory.edu/docs/Emory_Human_Genetics_Chorionic_Villus_Sampling.PDFhttp://genetics.emory.edu/docs/Emory_Human_Genetics_Chorionic_Villus_Sampling.PDF  Mayo Clinic. (2014). Amniocentesis. Retrieved on October 14, 2014 from http://www.mayoclinic.org/tests- procedures/chorionic-villus-sampling/basics/definition/prc-20013566http://www.mayoclinic.org/tests- procedures/chorionic-villus-sampling/basics/definition/prc-20013566  Mayo Clinic. (2014). Chorionic Villus Sampling. Retrieved on October 14, 2014 from http://www.mayoclinic.org/tests-procedures/chorionic-villus-sampling/basics/definition/prc-20013566 http://www.mayoclinic.org/tests-procedures/chorionic-villus-sampling/basics/definition/prc-20013566  Michigan Department of Community Health [MDCH]. (2012). Annual Report 2012 Retrieved on October 13, 2014 from http://michigan.gov/documents/mdch/Annual_Report2012_final_435720_7.pdfhttp://michigan.gov/documents/mdch/Annual_Report2012_final_435720_7.pdf  Michigan Department of Community Health [MDCH]. (2014). Biotrust. Retrieved on October 09, 2014 from http://www.michigan.gov/mdch/0,1607,7-132-2942_4911_4916_53246-232933--,00.html http://www.michigan.gov/mdch/0,1607,7-132-2942_4911_4916_53246-232933--,00.html  Michigan Department of Community Health [MDCH]. (2011). Galactosemia. Retrieved on October 14, 2014 from http://www.michigan.gov/documents/mdch/1galactosemia_369462_7.pdfhttp://www.michigan.gov/documents/mdch/1galactosemia_369462_7.pdf  Michigan Department of Community Health [MDCH]. (2011). Newborn Screening Brochure. Retrieved on October 13, 2014 from http://www.michigan.gov/documents/newborn_screening_broc_110897_7.pdfhttp://www.michigan.gov/documents/newborn_screening_broc_110897_7.pdf  Michigan Department of Community Health [MDCH]. (2014). Michigan Newborn Screening Questions and Answers. Retrieved on October 09, 2014 from http://www.michigan.gov/mdch/0,1607,7-132- 2942_4911_4916-233319--,00.htmlhttp://www.michigan.gov/mdch/0,1607,7-132- 2942_4911_4916-233319--,00.html  Michigan Department of Community Health [MDCH]. (2011). Phenylketonuria. Retrieved on October 14, 2014 from http://www.michigan.gov/documents/mdch/PKU_369490_7.pdfhttp://www.michigan.gov/documents/mdch/PKU_369490_7.pdf  U.S. National Library of Medicine. (2014). Amniocentesis. Retrieved on October 14, 2014 from http://www.nlm.nih.gov/medlineplus/ency/article/003921.htm http://www.nlm.nih.gov/medlineplus/ency/article/003921.htm