Analysis of Genetic Disease Testing

The Importance of Newborn Screening

Ranimol N. Fromer

Public Health Policy Analyst

Michigan Department Health Department

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

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

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

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

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

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

NBS Policy EvaluationAccountability

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

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

NBS Policy EvaluationAdaptability

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

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

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

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

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

References Baby’s First Test. (2014). Conditions Screened By State. Retrieved on October 10, 2014 from

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

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.PDF

Mayo Clinic. (2014). Amniocentesis. Retrieved on October 14, 2014 from http://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

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.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

Michigan Department of Community Health [MDCH]. (2011). Galactosemia. Retrieved on October 14, 2014 from http://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.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.html

Michigan Department of Community Health [MDCH]. (2011). Phenylketonuria. Retrieved on October 14, 2014 from http://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