Newborn Screening the Role of Public Health Nutrition

1
Newborn Screeningthe Role of Public Health
Nutrition

• Kim DeDino MS, RD, LD, CSP
• Pediatric Dietitian
• Ohio Department of Health

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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

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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

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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
  upincluding metabolic RD

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History of Newborn Screening

• Early 1960s Robert Guthrie discovered a way to
  test for phenylketonuria in infants, using whole
  blood on filter paper
• Late 1960s 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

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History of Newborn Screening

• Early 2000s 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

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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

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Disorders Screened

• Metabolic Disorders
• Endocrine Disorders
• Hemoglobinopathies
• Others
• Biotinidase deficiency
• Critical congenital heart disease
• Cystic fibrosis
• Classic galactosemia
• Hearing loss
• Severe combined immune deficiency

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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
• Hearing Loss
• Primary Congenital Hypothyroidism
• Cystic Fibrosis
• Sickle Cell Disease
• Medium-chain acyl-CoA dehydrogenase deficiency
  (MCADD)
• Galactosemia (Classic and variant)
• Phenylketonuria

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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 newborns 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

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What is an inborn error of metabolism?

• Normal metabolism
• enzyme
• Substrate ? Product
• PAH
• Phenylalanine ? Tyrosine
• Inborn error
• damaged/missing enzyme
• Substrate ?
• PAH
• Phenylalanine ? tyrosine

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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)

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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!

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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)

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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

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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
  pregnantdelivered 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.

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A closer look at MCADD

• Medium-chain acyl-coenzyme A dehydrogenase
  deficiency
• Disorder of fatty acid oxidation that impairs the
  bodys 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

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Nutrition therapy

• Goal avoid fasting
• Acute illness (even minor) is often the cause of
  metabolic decompensation
• Interventions during illness are criticalmust
  provide sweetened fluids, or if needed IV
  dextrose and IV carnitine
• Must carry Emergency Letter, Medical alert
  bracelet, glucose source
• Typical Dietheart healthy diet, some use
  supplemental L-carnitine
• Infants can have breastmilk or standard infant
  formula (limit MCT)
• Child30 fat and avoid over feeding

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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 drugsso may not
  make it on Medicaid/Medicare drug formularies

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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/medical
  ly-necessary-foods-and-formula-laws.aspx

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Medical Foods and the Affordable Care Act

• 2011Institute 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

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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

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Metabolic Disorders and Nutrition Programs

• WIC
• National School Lunch Program
• Early Intervention
• Medicaid

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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 childs medical condition
  requires a very low fat diet and whole milk is
  not right for him.
• Follow your metabolic physicians 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

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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/S
  haring_Center/gallery/family5.html

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National School Lunch Program

• Accommodating Children with Special Dietary Needs
  in the School Nutrition Programs
• http//www.fns.usda.gov/cnd/guidance/special_dieta
  ry_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.

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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.

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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

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Looking to the future

• HRSA sponsored long term follow up database
• Goalto 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

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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/ind
  ex.html

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HRSA Regional Genetics and NBS Collaboratives
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Thank you