Transcript Newborn Screening

Newborn Screening
the Role of Public Health Nutrition
Kim DeDino MS, RD, LD, CSP
Pediatric Dietitian
Ohio Department of Health
Outline
• History and current status of newborn screening in the US
• What is an inborn error of metabolism and how is it treated
• Special look at PKU and MCADD
• Challenges in newborn screening follow up/treatment
• Looking forward
What is Newborn Screening?
• Infants are screened shortly after birth for a number of
disorders that are difficult or impossible to detect clinically
• Heel Stick
• Hearing Screen
• Congenital Heart Screen
• Ultimate goal is to prevent death or disability through early
detection and treatment of these disorders
• Newborn screening is more than just testing —it is an
integrated system linking the babies, parents, hospitals &
physicians with the health department and appropriate
medical care
Newborn Screening Blood Spot
• After 24 hours of age, heel stick is conducted at the hospital or
by the midwife if a home birth, sample is overnighted to the
lab
• The lab runs the sample and determines if it is within normal
limits or if there are any abnormal findings
• If a high level is found, the pediatrician on record and the birth
hospital is immediately notified
• Child referred to specialized medical follow up—including
metabolic RD
History of Newborn Screening
• Early 1960’s: Robert Guthrie discovered a way to test for
phenylketonuria in infants, using whole blood on filter paper
• Late 1960’s: pilot program for PKU testing successful, States
adopt PKU screening
• 1980s and 90s: States vary widely in the type and number of
disorders that are screened
• 1999: AAP Newborn Screening Task Force formed
History of Newborn Screening
• Early 2000’s: Tandem Mass Spectrometry becomes used more
widely in newborn screening programs, greatly expanding the
number of tests that can be run using a small amount of blood
• 2002: MCHB commissioned the American College of Medical
Genetics to review the effectiveness of newborn screening
and provide recommendations for a uniform panel
• 2007 Newborn Screening Saves Lives Act
• 2012: Uniform panel contains 31 disorders
What makes a disorder eligible
for screening?
1. The availability and characteristics of the screening test
2. The availability and complexity of diagnostic services
3. The availability and efficacy of treatments related to the
conditions
Disorders Screened
• Metabolic Disorders
• Endocrine Disorders
• Hemoglobinopathies
• Others
•
•
•
•
•
•
Biotinidase deficiency
Critical congenital heart disease
Cystic fibrosis
Classic galactosemia
Hearing loss
Severe combined immune deficiency
Screening in the US
• In the US, 12,500 infants are diagnosed annually with one of
the 29 core conditions on the panel (exempting CCHD and
SCID)
• In 2009, the most commonly diagnosed conditions were:
1.
2.
3.
4.
5.
6.
7.
Hearing Loss
Primary Congenital Hypothyroidism
Cystic Fibrosis
Sickle Cell Disease
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Galactosemia (Classic and variant)
Phenylketonuria
Tandem Mass Spectrometry
• The use of MS/MS allows for screening of multiple metabolic
disorders using a single analytical run
• MS/MS weighs molecules
• MS/MS can identify acylcarnitines and amino acids present in
the newborn’s blood and can also measure how much of each
is present
• Can identify high risk for amino acid disorders, fatty acid
oxidation disorders, and organic acidemias
What is an inborn error of
metabolism?
Normal metabolism:
Substrate
enzyme

Product
PAH
Phenylalanine 
Tyrosine
Inborn error:
damaged/missing enzyme
Substrate

PAH
Phenylalanine 
tyrosine
The metabolic conditions
• Organic Acid Disorders
• Example: Isovaleric Acidemia (IVA)
• Amino Acid Disorders
• Example: Phenylketonuria (PKU)
• Fatty Acid Oxidation Disorders
• Example: Medium-chain acyl-coenzyme A dehydrogenase
deficiency (MCADD)
Nutrition therapy
• Amino Acid Disorders/Organic Acid Disorders
• Medical foods/Special Formula
• Supplements (vitamins, specific a.a., carnitine, MCT oil)
• Low Protein specialty foods
• Fatty Acid Oxidation Disorders
• Providing adequate carbohydrate calories day and night (spares
fatty acids form being used for energy)
• Prevention of fasting
• May require extremely low fat diet depending on disorder
• Coverage is a challenge!
What does that really mean?
For organic acidemias and amino acid disorders:
• 10-20% of total protein comes from food and 80-90% of total
protein comes from special medical formula (child).
• No meat, fish, eggs, dairy, nuts
• Very minimal (if any) regular breads and cereals
• Measured amounts of fruits, vegetables, and low pro foods
For fatty acid oxidation disorders:
• Cornstarch therapy before bed and/or scheduled night time
feeding
• Possible need for low fat diet of 10% of calories (depends on
disorder)
A closer look at PKU
• Autosomal recessive disorder
• Mutation in the gene for the liver enzyme phenylalanine
hydroxylase (PAH), which converts phenylalanine to tyrosine
• Diet consists of
•
•
•
•
•
Phenylalanine-free medical food (formula)
Measured amounts of breastmilk or formula for infants
Measured amounts of fruits, vegetables, and limited grains
Can benefit from specialty low protein foods
No meat, dairy, fish, eggs, and extremely limited grains
• New medication introduced in 2007 (Kuvan)
• Treatment monitored by checking frequent blood
phenylalanine levels
Evolution of treatment in PKU
• In the past, infants and children were taken off diet around age 5
due to the assumption that the brain was developed and was no
longer affected by high phenylalanine levels
• These children grew up and the women became pregnant—
delivered children with multiple issues (microcephaly, heart defects,
etc.)
• Further research indicated older children and adults “off diet”
experienced numerous issues (both physical and emotional)
• Now we recommend “Diet for Life”, but many adults struggle to get
coverage of their medical foods or insurance for monitoring. Some
states do not provide access to medical foods/formula for people
over 21 years.
A closer look at MCADD
Medium-chain acyl-coenzyme A dehydrogenase deficiency
• Disorder of fatty acid oxidation that impairs the body’s ability
to break down medium chain fats into acetyl-CoA.
• Autosomal recessive disorder, 1 in 10,000 births
• Disorder does not present clinically until periods of fasting
Nutrition therapy
• Goal: avoid fasting
• Acute illness (even minor) is often the cause of metabolic
decompensation
• Interventions during illness are critical—must provide sweetened
fluids, or if needed IV dextrose and IV carnitine
• Must carry Emergency Letter, Medical alert bracelet, glucose
source
• Typical Diet—heart healthy diet, some use supplemental Lcarnitine
• Infants can have breastmilk or standard infant formula (limit
MCT)
• Child—30% fat and avoid over feeding
Food/Formula Coverage
• Metabolic formulas are considered “Medical Foods”
The term medical food, as defined in section 5(b) of the Orphan Drug Act (21
U.S.C. 360ee (b) (3)) is "a food which is formulated to be consumed or
administered enterally under the supervision of a physician and which is
intended for the specific dietary management of a disease or condition for
which distinctive nutritional requirements, based on recognized scientific
principles, are established by medical evaluation.“
• Insurance typically excludes coverage of “foods” or “nutrition
supplements”
• Amino acids, vitamins, etc may not have NDC coding and are
not classified as drugs—so may not make it on
Medicaid/Medicare drug formularies
Food/Formula Coverage
• WIC, being a supplemental program, often can provide only a
portion of the required medical food
• State Medicaid programs vary in their coverage of oral
formulas. Most Medicare programs prohibit coverage of oral
formulas. Most early treated patients do not require tube
feedings.
• State metabolic formula programs exist, with varying age and
income requirements.
• State insurance law mandates can help in some cases,
however are not a panacea (ex: ERISA)
• http://www.ncsl.org/issues-research/health/medicallynecessary-foods-and-formula-laws.aspx
Medical Foods and the
Affordable Care Act
• 2011—Institute of Medicine issued a report on essential
benefits that should be included in the insurance exchanges
• Medical Foods and specialty low protein foods were not
included, citing lack of evidence based medical practice
• At this time, there is no requirement for states to cover these
lifesaving products
• Advocacy groups continue to work on this challenging
problem
Financial burden of low pro diets
• Specialized PKU formula costs approx $6000 or more per year
• Other amino acid disorders have a greater cost $80000 per
year and up
• Supplemental amino acids
• $120 per 30 day supply of tyrosine from Vitaflo USA
• Low protein foods vs. regular foods
• Low protein mac and cheese costs $8.99 per 7oz box
• Kraft macaroni and cheese costs $1.45 per 7 oz box
• Low protein baking mix costs $29.99 per 6lb box
• Bisquick baking mix costs $13.46 per 6lb box
Metabolic Disorders and
Nutrition Programs
•
•
•
•
WIC
National School Lunch Program
Early Intervention
Medicaid
WIC
• Many recommendations for infants, children, and pregnant women
with metabolic disorders differ from traditional WIC nutrition advice
• Should be off the bottle at 1 year of age
• Low fat milk should not be given to a child under 2 years old
• Young infants should breastfeed at will and on demand
Versus
• It is important for your child to finish all of his metabolic formula each
day, whether that be in a cup or a bottle
• I understand your child’s medical condition requires a very low fat
diet and whole milk is not right for him.
• Follow your metabolic physician’s guidance on combining
breastfeeding and metabolic formula
• Local WIC staff need to be aware of metabolic disorders and know
how to work with the medical team caring for the child
WIC resources
• Ohio WIC worked with Ohio metabolic RDs to create
education materials for use with children on low protein diets
(amino acid disorders and organic acid disorders)
• Can be found at
http://www.nal.usda.gov/wicworks/Sharing_Center/gallery/fa
mily5.html
National School Lunch
Program
• Accommodating Children with Special Dietary Needs in the
School Nutrition Programs
• http://www.fns.usda.gov/cnd/guidance/special_dietary_needs.pdf
• USDA regulations 7 CFR Part 15b require substitutions or
modifications in school meals for children whose disabilities
restrict their diets. A child with a disability must be provided
substitutions in foods when that need is supported by a
statement signed by a licensed physician.
• Other accommodations include access to a salad bar or the
fruit and vegetable of the meal, access to refrigeration for
medical formula, etc.
Other programs
• Early Intervention —RDs can provide education to EI home
visitors regarding where to get information about metabolic
disorders
• Medicaid —RDs should advocate for enteral policies that do
not prohibit all oral formulas
• Title V –Title V RDs can work closely with the metabolic RDs to
help follow these children in the community. In Ohio, our
home visiting RDs work very closely with our metabolic teams
and provide “eyes in the home”.
Challenges
• Formula and supplement coverage
• Contradictory public health policies, for ex:
• Newborn screening is important, yet follow up (formula) is not
covered
• Not all medical professionals know about metabolic disorders
and their treatment , for ex:
• OBs who are unaware of maternal PKU syndrome
• Families and privacy advocacy groups that have fears about
genetic testing and are questioning NBS programs
Looking to the future
• HRSA sponsored long term follow up database
• Goal—to help standardize care
• Need to continue to build the infrastructure for long term
follow up and treatment of NBS disorders (incl. access to
medical foods, access to insurance for adults)
• Need to continue to educate health professionals regarding
these disorders and the importance of collaborating with
genetic specialists
• Need to educate families on the benefits of NBS to them and
to society, address their fears about genetic testing
Resources
• Genetic Metabolic Dietitians International (GMDI)
• http://gmdi.org/
• National Newborn Screening and Genetics Resource Center
• http://genes-r-us.uthscsa.edu/
• HRSA Newborn Screening
• http://mchb.hrsa.gov/programs/newbornscreening/index.html
HRSA Regional Genetics and
NBS Collaboratives
Thank you