Aidan’s Law (S 2641/ HR 4692, 114th Congress)

The Policy

What it does

Requires state administration of newborn screening for adrenoleukodystrophy.

Synopsis

S 2641 (HR 4692 - identical) amends the Public Health Service Act to require newborn testing for adrenoleukodystrophy. The bill would require:

- Every hospital, child care center, clinic or other institution caring for infants 28 days of age or less to test every such infant for adrenoleukodystrophy.

- The Chief Executive Officer for Health in each state to develop standards and procedures for: administration of testing, distribution of testing information to parents, recording test results, tracking associated activities, conducting follow-up reviews, and carrying out educational activities.

- All state standards and procedures be subject to review and approval of the Advisory Committee.

Enforcement: Under this bill, states that fail to comply with these rules will lose eligibility for funding provided by the Heritable Disorders Program established under title XI of the Public Health Service Act (42 U.S.C. 300b-1 et seq.).

This bill also:

  • Amends Reauthorization of the Heritable Disorders Program, providing it with $15 million each fiscal year between FY 2016 and FY 2019 for a total additional cost of $60 million; and
  • Updates the Advisory Committee’s duties to reflect the new activities associated with state requirements for adrenoleukodystrophy testing in newborns.

Context

The Science

Science Synopsis

Adrenoleukodystrophy (ALD) is a genetic disorder, meaning that it results from a gene defect that can be detected in newborn children. The specific gene affected in ALD is involved in the metabolism of certain type of fatty acids, which appear to be especially toxic to cells in the adrenal gland and in the brain, spinal cord, and peripheral nerves. Children with ALD have a high risk of developing problems with their adrenal glands, cognitive problems, movement problems and progressive damage to the brain and spinal cord.  However, if the disease is diagnosed early enough, a bone marrow stem cell transplant or other treatments may be able to halt or reduce progression of the disease. As a result, advocates of this bill propose that all newborn children should be screened for ALD. 

The gene affected in ALD normally produces a protein that helps cells to break down a particular class of fatty acids, called very long chain fatty acids (VLCFA).  When the gene is mutated so that it produces a defective protein, these very long fatty acids can accumulate in the brain and other organs. Scientists do not yet understand exactly how this accumulation disrupts cells, but it is clear that nerve cells are particularly vulnerable to these effects.  ALD leads to progressive dysfunction of the long nerve fibers, or axons, that connect nerve cells in the brain and spinal cord and run through the peripheral nerves to control muscles throughout the body.  ALD also leads to a breakdown of myelin, the fatty sheaths that insulate axons and allow effective transmission of nerve impulses over long distances.

ALD occurs in roughly 1 out of every 20,000 births, making it a relatively common metabolic disorder, but it is much more common in boys than girls.  That is because the gene involved in ALD is located on the X chromosome, one of two sex chromosomes in humans. Females have two X chromosomes while males have one X chromosome and a Y chromosome. As a result, when a boy is born with an X chromosome that contains a mutation in the ALD gene, he has no other copy of the gene that can produce the normally functioning ALD protein. On the other hand, if a girl inherits one X chromosome with an ALD mutation, she has a second X chromosome that will typically have a normal copy of the ALD gene, which can produce a normally functioning ALD protein to compensate for the defective gene. 

For children who inherit a defective ALD gene, it remains difficult to predict exactly which symptoms they will develop or when they will appear.  However, once symptoms appear, there is a relatively narrow window of time when treatments can be effective in slowing or halting profession of the disease.  Several studies have shown, for example, that healthy bone barrow stem cells transplanted for a suitable donor can infiltrate the brain and improve metabolism of VLCFA’s, but only if the transplants occur early in the disease (Vogel 2015, Wiesinger 2015).  Newborn screening for genetic diseases like ALD allows children at risk of developing the disease to be identified before symptoms become apparent.  In the case of ALD, this allows parents to receive genetic counseling and guidance on specific monitoring programs to detect the earliest onset of symptoms, increasing the likelihood for treatment to be effective.

Typically, testing of newborns is done via a ‘heel prick’ to obtain blood and this blood is tested for certain diseases and disorders. Each state determines the specific diseases for which newborns will be screened. While the federal government recommends newborns be screened for 29 diseases, there is not uniform implementation among the states.


The Debate

Endorsements & Opposition

Endorsements:

  • Supporters of Aidan’s Law and newborn screening argue that testing newborns for genetic disorders can help to direct treatment and prevention strategies for otherwise life threatening diseases. Supporters argue that cost should not be an issue when an infant’s life is at stake. There is currently a change.org petition in place to garner support for Aidan’s Law. The law is largely supported by Aidan’s family and advocacy/research groups such as The Myelin Project.

Opposition:

While there are currently no known direct opposition statements in place against Aidan’s Law, opponents of newborn screening often make claims against its cost, efficacy and consent from parents. While state programs ultimately direct and control newborn screening, government monetary assistance helps to fund these tests and therefore public funds being used for newborn screening can be a cause for controversy.  Additionally, many people argue that mandatory genetic screening goes against the rights of parents to decide what is right for their child.  Additionally, follow up to testing can require treatment, adding additional costs and once again, raising an issue of consent if newborns are to be treated for these diseases.