History of the ACHDNC

ACHDNC History Timeline

Welcome to the ACHDNC Timeline, which outlines key events in the Committee’s history from its foundation through present day. The Timeline provides a chronological overview of Committee initiatives and recommendations and is a useful resource for newborn screening stakeholders interested in learning more about the ACHDNC’s role in strengthening the system of newborn screening services across the nation.

ACHDNC History Timeline (PDF - 598 KB)

1999

May 1999—NBS Task Force Report

The Health Resources and Services Administration’s Maternal and Child Health Bureau partnered with the American Academy of Pediatrics to form a national Task Force on Newborn Screening. The purpose of the Task Force was to review issues and challenges for state newborn screening programs. Five workgroups collected information and presented findings to the full Task Force in May 1999. The Task Force made the following four recommendations:

  1. Effective newborn screening systems need an adequate public health infrastructure and must be a part of the health care delivery system.
  2. Public health agencies must involve health professionals, families, and the general public in the development, operation, and oversight of newborn screening systems.
  3. Public health agencies must ensure adequate infrastructure and policies for surveillance and research related to newborn screening.
  4. Public health agencies should ensure adequate funding to support a newborn screening program.

2003

2003—HHS Establishes the ACHDNC

In 2003, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was created under Section 1111 of the Public Health Service Act, 42 U.S.C. 300b-10 as amended in the Newborn Screening Saves Lives Act of 2007 (Act) to advise the Secretary of Health and Human Services about newborn and childhood screening. There are up to 15 members in the group, including:

  • Medical, scientific, and public health experts in heritable disorders;
  • Experts in ethics;
  • Members of the public with expertise or concern with heritable disorders; and
  • Representatives from federal agencies, medical societies, and public health groups.

2004

June 7-8, 2004—1st ACHDNC Meeting

The first meeting of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was held June 7–8, 2004. Thirteen Committee members attended the first meeting. The members received presentations and briefings covering topics that included the following:

  • An overview of state newborn screening programs
  • Roles and activities of federal agencies and other Federal Advisory Committees in newborn screening
  • Standardization of guidelines and practices for newborn screening programs
  • Delivery of genetic services to children in a clinical setting

Eleven individuals delivered public comment. Statements came from industry, family advocacy organizations, parents, community-based organizations, and research groups.
At the end of the first ACHDNC meeting, the Committee identified its three highest priorities:

  • Consideration of a uniform panel
  • Future research agenda
  • Emerging technologies

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2005

2005—ACMG Expert Panel

In response to the recommendations of the 1999 Newborn Screening Task Force, the Health Resources and Services Administration (HRSA) contracted with the American College of Medical Genetics (ACMG). ACMG was asked to analyze scientific literature and collect expert opinions on newborn screening. The goal was to use the findings to make recommendations for newborn screening, including a uniform panel of conditions.

ACMG released its report in 2005. The proposed Core Condition Panel contained 29 conditions, and 25 more conditions were listed as secondary targets. The report also described the specific steps in the newborn screening process that should be monitored. It also recommended a uniform approach to data collection and program evaluation, to help improve comparison of programs across states.

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2007

April 7, 2007—Prenatal Education

Educating parents about newborn screening during the prenatal period is important because it gives them time to understand and discuss the benefits of newborn screening prior to birth. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that the Secretary of Health and Human Services develop and fund more studies about what information expectant parents receive about newborn screening. They also recommended studying how parents learn about newborn screening from their health care providers.

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2008

April 2008—NBS Saves Lives Act of 2008

The Newborn Screening Saves Lives Act of 2007 funded federal, state, and local newborn screening activities. It aimed to improve education, outreach, follow-up, and laboratory quality and surveillance in newborn screening. Congress passed the Act in December 2007, and the President signed it in April 2008. The Act required the Advisory Committee on Heritable Disorders in Newborns and Children to make recommendations on conditions for newborn screening. It also required:

  • An information clearinghouse;
  • Quality assurance and control mechanisms for laboratories and testing tools;
  • Establishment of an Interagency Coordinating Committee on Newborn and Child Screening;
  • Development of a national plan for newborn screening in the event of a public health emergency; and
  • Authorization for continued and expanded newborn screening research.

October 21, 2008—Adoption of the ACMG recommended screening panel

On September 9, 2005, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) wrote a letter to the Secretary of Health and Human Services to recommend the use of a uniform panel for state newborn screening programs. The ACHDNC also recommended that newborn screening include follow-up, diagnosis, management and treatment, evaluation, and education. On October 21, 2008, the Secretary adopted the ACMG recommendations.

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2009

October 2, 2009—Gaps in coverage and lack of uniformity in reimbursement of medical foods and foods that are critical treatments for children and adults identified with inborn errors of metabolism through NBS

Newborn screening helps to identify children with serious health conditions who require early treatment. Some of these children require special medical foods. These foods are expensive, and it can be hard for parents to afford them. There are some government programs that help families pay for medical foods. Unfortunately, not all families qualify to receive this support. Health insurance sometimes helps to cover some medical foods, but often it is not enough.

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that the Secretary of Health and Human Services change the rules on health insurance coverage of medical foods. They also suggested that State Medicaid programs cover medical foods. However, the Department of Health and Human Services did not have the authority to make these changes.

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2010

May 21, 2010—Secretary establishes the RUSP

In May 2010, the Secretary of Health and Human Services accepted the recommendation of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to create a Recommended Uniform Screening Panel (RUSP). The RUSP is a list of disorders that the Secretary of Health and Human Services recommends for states to screen as part of their state universal newborn screening programs. The RUSP includes a set of both core and secondary conditions (i.e. disorders that may be found while screening for core conditions). In 2010, the RUSP was comprised of 29 core conditions and 25 secondary conditions. However, since then additional conditions have been added to the RUSP. For information on how to nominate a condition for inclusion on the RUSP, please reference the ACHDNC’s Nominate a Condition page.

The Secretary of Health and Human Services recommends screening every newborn for all heritable disorders on the RUSP, but each state makes their own decision on which disorders to include in their newborn screening program. Most states screen for the majority of disorders, and some also screen for disorders not included on the RUSP.

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May 21, 2010—SCID added to the RUSP

Severe combined immunodeficiency (SCID) is a genetic disorder that makes the body unable to fight off infections. White blood cells are needed to fight off infections. People with SCID either have too few white blood cells or white blood cells that do not work properly. Signs of SCID include diarrhea, repeated infections, poor weight gain, and thrush. If left untreated, SCID can lead to early death. Early diagnosis and treatment can improve outcomes.

On February 25, 2010, the Advisory Committee on Heritable Disorders in Newborns and Children recommended that SCID be added to the Recommended Uniform Screening Panel (RUSP).The Secretary of Health and Human Services accepted the recommendation on May 21, 2010. At the same time, the Secretary requested a report on the status of states implementation of screening for SCID, which was provided on May 19, 2011.

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September 23, 2010—Health care reform and public health NBS programs

In March 2010, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) wrote a White Paper (PDF - 106 KB) on how health care reform might improve quality, efficiency, and access to newborn screening programs. As a result, on March 23, 2010, the ACHDNC recommended four actions to address barriers to improving the newborn screening system. The Secretary of Health and Human Services responded on September 23, 2010, and accepted three of the four recommendations. The recommendations included encouraging the Centers for Medicare and Medicaid Services to:

  • streamline the billing process for newborn screening services and standardize health transactions,
  • develop a payment method for care coordination through the medical home framework, and
  • adopt and further define the use of the Newborn Screening Use Case for health information exchange endeavors.

The fourth recommendation was not accepted. This recommendation was about closing gaps in insurance coverage for medical foods and foods modified to be low in protein. The topic was addressed in more detail in December 2010.

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October 13, 2010—CLIAC Recommendations

On August 25, 2010, the Centers for Disease Control and Prevention (CDC) wrote a letter to the ACHDNC on the Clinical Laboratory Improvement Advisory Committee (CLIAC) recommendations for good laboratory practices for newborn screening. The recommended practices addressed the following:

  • The benefits of using a quality management system approach
  • Factors to consider before introducing new tests
  • Establishment and verification of test performance specifications
  • An overview of the laboratory testing process
  • Confidentiality of patient information and test results
  • Personnel qualifications and responsibilities for laboratory testing for inherited metabolic diseases

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December 14, 2010—Insurance coverage of medical foods, foods modified to be low protein, and pharmacological doses of vitamins and amino acids

In 2010, when the Department of Health and Human Services (HHS) was planning the Affordable Care Act, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) asked HHS to require that all types of health insurance cover medical foods and foods modified to be low in protein. These products can be expensive for families who need them to treat their child’s metabolic disorder. The ACHDNC also wanted people of all ages with one or more of the conditions on the Recommended Uniform Screening Panel (RUSP) to be considered high-risk and to be guaranteed access to comprehensive health care coverage.

At that time, the Secretary of Health and Human Services was in the process of gathering information to determine essential health benefits and could not accept the Committee’s recommendation. The Secretary indicated that the information provided would be considered in determining essential health benefits.

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2011

June 27, 2011—Sickle cell trait

People who have one sickle cell gene and one normal gene have sickle cell trait (SCT). It is important for people with SCT to know they have the condition. People with SCT are more likely to experience heat stroke and muscle breakdown during strenuous exercise. The National Collegiate Athletic Association and National Athletes Trainers’ Association recommended SCT screening for Division 1 athletes to reduce the number of training-related deaths.

On October 11, 2010, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) provided five recommendations related to sickle cell disease and athletes. On July 27, 2011, three of the five recommendations were accepted by the Secretary of Health and Human Services:

  1. All individuals should have the opportunity to know their risk for various medical disorders, including SCT.
  2. Genetic testing should not be a prerequisite for participation in sports, unless medically necessary.
  3. All athletes should receive education on prevention of heat-related illnesses.

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September 2, 2011—National Contingency Plan for NBS

Many organizations have developed contingency plans to ensure the continuity of operations in case of an emergency. The Newborn Screening Saves Lives Act of 2007 required the development a national contingency plan (PDF - 739 KB) for newborn screening. The Centers for Disease Control and Prevention, the Health Resources and Services Administration, and state health departments worked together to develop a national newborn screening contingency plan. In May 2010, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) reviewed and approved the plan. On August 6, 2010, the ACHDNC recommended that the Secretary of Health and Human Services use the plan to coordinate newborn screening emergency preparedness activities. The Secretary of Health and Human Services responded on September 2, 2011, with acceptance of the recommendation.

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September 21, 2011—CCHD added to the RUSP

Congenital heart disease (CHD) is a general term describing a range of symptoms resulting from heart defects that are present at birth. These varied congenital defects change the normal flow of blood through the heart, leading to a range of conditions and symptoms. Critical congenital heart disease (CCHD) is a group of defects that cause severe and life-threatening symptoms. CCHD requires intervention within the first days or first year of life. Critical congenital cyanotic heart disease (CCCHD) is a type of CCHD where babies have a low level of oxygen in their blood. Blood oxygen levels can be identified using pulse oximetry. CHD is the most common cause of death in the first year of life.

On October 15, 2010, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) made the recommendation to add CCCHD to the RUSP. The Secretary of Health and Human Services accepted the recommendation on September 21, 2011.

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2012

April 3, 2012—Implementing Point of Care Screening

Point-of-care screening tests are conducted at the same place where patients receive medical care. This is different from most newborn screenings, which use a laboratory to perform tests. An example of point-of-care newborn screening is testing for congenital heart disease using a pulse oximeter.

In 2012, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) wrote a report (PDF - 383 KB) providing guidance to state public health agencies, doctors, and hospitals on using point-of-care newborn screening. ACHDNC developed this information to help ensure high-quality, universal access to newborn screening; establish standards of care; and provide mechanisms for effective diagnosis, intervention, and follow-up care.

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2013

January 2013—ACHDNC adopts new decision matrix

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) adopted a new approach for making recommendations HRSA Exit Disclaimer for conditions to add to the Recommended Universal Screening Panel in January 2013. Using the new approach, the ACHDNC would consider the range of expected benefits and risks of screening for each condition along with the readiness of state newborn screening programs to provide comprehensive screening for the conditions. Each of these receives a rating, and the two ratings are combined into a single score that serves as the basis for the ACHDNC recommended action.

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April 24, 2013—ACHDNC is established as a discretionary advisory committee

On April 24, 2013, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was re-established as a discretionary committee. The ACHDNC continued to advise the Secretary of Health and Human Services about newborn screening.

August 21, 2013—Improving data quality by linking NBS to birth certificates

Matching newborn screening results with birth certificate information is an important quality assurance measure but is often challenging. This is because there may be spelling or recording errors with a baby’s name on the hospital records and newborns’ names are often not finalized at the time the specimen is submitted. Thus, the matching process can be time consuming and labor intensive.

To help link this information, in March 2012, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended including the newborn dried bloodspot serial number on the birth certificate. However, after a review of the recommendations, the Secretary of Health and Human Services could not endorse them for the following reasons:

  • Newborn screening quality assurance is up to each state.
  • The opportunity to add a field to the U.S. Standard Certificate of Live Birth would not be open until 2019.
  • The ability to use a unique state-specific serial number will vary from state to state.
  • There are questions around the security of a serial number and personally identifiable information.
  • Endorsing this method might limit the creativity of states in using alternative approaches.

As a result, on August 21, 2013, the recommendation was rejected.

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December 13, 2013—Residual Dried Blood Spots

A dried bloodspot specimen is blood collected from a person and dried on filter paper for testing and analysis. Laboratories use this process to conduct newborn screening.

In 2010, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) wrote a paper describing their concerns about the use and storage of dried bloodspot specimens. There were two main purposes of the paper. First, they wanted to review the ethical, legal, and social issues related to dried bloodspot specimens; they also wanted to discuss the importance of educating the public about the process for taking a dried blood specimen sample, as well as financial considerations of storing these samples. Second, the ACHDNC hoped the paper would help lead to the creation of national guidance for states about dried bloodspot samples.

The ACHDNC submitted this paper to the Secretary of Health and Human Services along with eight recommendations to help guide state newborn screening programs in their use and storage of dried bloodspots. After review in 2013, the Secretary of Health and Human Services accepted four of the ACHDNC’s recommendations addressing state and federal initiatives to educate newborn screening stakeholders and start a national dialogue among stakeholders.

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2014

September 2014—ACHDNC created the Public Health Impact Assessments

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) established an Expert Advisory Panel to make recommendations for the development of a public health system impact survey instrument. The ACHDNC developed the tool to assess the feasibility and readiness of states to start screening for a new condition. The Office of Management and Budget (OMB) approved the tool. The tool is administered to states to:

  • Assess the state's ability to screen for the condition;
  • Assess the availability of follow-up diagnostic and clinical referrals; and
  • Provide an estimate of how long it would take to states to start testing once the decision was made to screen for the condition. 

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December 18, 2014—NBS Saves Lives Reauthorization Act of 2014

In 2014, the passage of the Newborn Screening Saves Lives Reauthorization Act of 2014 (the Act)

extended the Newborn Screening Saves Lives Act of 2008. The Act focused on improving screening, counseling, and other services related to heritable disorders detectable in newborns. The Act stated that funding should be used to help make the newborn screening process quicker and to help train health care professionals to provide results to families in a timely manner.

Some of the other important parts of the Newborn Screening Saves Lives Reauthorization Act included the following:

  • Continues the grant program to evaluate the effectiveness of newborn screening
  • Continues the Advisory Committee on Heritable Disorders in Newborns and Children
  • Continues the Hunter Kelley Newborn Screening Research Program to continue research on disorders that could be added to the Recommended Uniform Screening Panel
  • Continues the clearinghouse for newborn screening to maintain information on the number of conditions that each state screens for and to share guidelines for conditions detected by newborn screening
  • Continues the requirements for quality assurance of laboratories involved in newborn screening
  • Continues the Interagency Coordinating Committee on Newborn and Child Screening
  • Requires the Comptroller General within the Government Accountability Office to report on the timeliness of newborn screening and the Secretary of Health and Human Services to report on newborn screening activities and expenditures
  • Requires the national contingency plan for newborn screening be updated at least every 5 years
  • Directs Health and Human Services to update the Common Rule and require parental consent before residual dried bloodspots from newborns are used in research

The Newborn Screening Saves Lives Reauthorization Act authorized the ACHDNC for another 5 years until September 2019.

2015

February 2015—USPSTF transferred NBS topics to the ACHDNC

The U.S. Preventive Services Task Force (USPSTF) is an independent, volunteer panel of national experts who make evidence-based recommendations about clinical preventive services such as screenings, counseling services, and preventive medications. In 2015, the USPSTF decided to refer its newborn screening topics, including sickle cell disease, phenylketonuria (PKU), and congenital hypothyroidism to the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) as well as any future newborn screening topics. USPSTF recommendations are based on a rigorous review of existing peer-reviewed evidence so the decision to refer these newborn screening topics to the ACHDNC recognizes the rigor of the Committee’s evidence-based review process.

March 2, 2015—Pompe Disease added to the RUSP

Pompe disease is an inherited lysosomal storage disorder. In the body, lysosomes help recycle cell substances. In people with Pompe disease, lysosomes are not able to break down certain sugars. These sugars and other substances build up in the cells, causing damage. There are three forms of Pompe disease characterized by severity and age of onset. Symptoms vary based on type, but can include muscle weakness, failure to grow and gain weight, and difficulty breathing. Early diagnosis and treatment can lead to better outcomes.

On June 3, 2013, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) made the recommendation to add Pompe disease to the Recommended Uniform Screening Panel (RUSP). The Secretary of Health and Human Services accepted the recommendation to add Pompe disease to the RUSP on March 2, 2015.

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March 16, 2015—Succinylacetone as primary marker to detect tyrosinemia type 1

Tyrosinemia is a genetic disorder resulting in the inability of the body to break down the amino acid, tyrosine. Tyrosinemia type 1 (TYR 1) is the most severe form of tyrosinemia, with symptoms appearing within the first few months of life. TYR 1 may affect the brain, liver, and kidneys, and can result in early death if left untreated. Research shows that treatment is most effective if started within the first month of life. Thus, TYR 1 is included in the core conditions of the Recommended Uniform Screening Panel. Most newborn screening programs screen for TYR 1.

Commonly, TYR 1 is detected by measuring the level of tyrosine in the blood. However, elevated tyrosine levels are not specific to TYR 1, and can result in false negative and false positive test results. Research has determined that succinylacetone (SUAC) is a better indicator for TYR 1. By using SUAC as a primary marker for TYR 1, false negative and false positive test results can be decreased.
In 2014, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that the Secretary of Health and Human Services facilitate a national dialogue among federal and state stakeholders on the benefits of measuring SUAC in dried bloodspots for tyrosinemia type I.

On March 16, 2015, the Secretary of Health and Human Services accepted the recommendation. The Secretary of Health and Human Services also encouraged a discussion on a more consistent implementation of screening for TYR 1.

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June 3, 2015—Timely newborn screening goals

Collecting and transporting dried bloodspots and reporting test results in a timely manner are critical steps to newborn screening. In 2005, the Newborn Screening: Toward a Uniform Screening Panel and System Report (PDF - 688 KB) made four timeliness recommendations for the newborn screening system. By 2015, many states were still not meeting these recommendations.

In 2015, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) developed three specific goals to improve the timeliness of the newborn screening system. The ACHDNC proposed that newborn screening programs strive to meet the following timelines:

  1. Presumptive positive results for time-critical conditions should be communicated immediately to the newborn’s health care provider no later than 5 days of life.
  2. Presumptive positive results for all other conditions should be communicated to the newborn’s health care providers as soon as possible, but no later than 7 days of life.
  3. All newborn screening tests should be completed within 7 days of life, with results reported to the health care provider as soon as possible.

To meet these goals, initial newborn screening specimens should be collected no later than 48 hours after birth. The specimens should be received at the laboratory as soon as possible, ideally within 24 hours of collection. 

States are not required to meet these goals, but ACHDNC suggested that states aim to have 95% or more of newborns meet these timeliness goals by 2017. To support these efforts, the Health Resources and Services Administration awarded funding through a cooperative agreement to support states and help implement strategies to improve timeliness and share best practices.

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October 30, 2015—Informed Consent for NBS

Residual newborn screening dried bloodspots are often stored by state health departments after the initial tests are complete. Recent lawsuits showed that some states used these dried bloodspots without parental consent for more research. Amendment 12 of the Newborn Screening Saves Lives Reauthorization Act of 2014 requires parental consent before residual dried bloodspots from newborn screening are used in research. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) determined that more guidance was needed for state newborn screening programs on how to implement this amendment. On June 23, 2015, the ACHDNC provided six recommendations to the Secretary of Health and Human Services. After review, the Secretary of Health and Human Services agreed to one of the recommendations. The recommendation was to create and distribute materials on the importance of newborn screening. The materials would include information on options for parents to take part in newborn screening research.

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2016

February 16, 2016—MPS I added to the RUSP

Mucopolysaccaridosis type I (MPS I) is an inherited lysosomal storage disorder. In the body, lysosomes help recycle cell substances. In people with MPS I, lysosomes are not able to break down certain sugars. These sugars and other substances build up in cells. As a result, the cells cannot perform properly, and cause damage to the body. There are two forms of MPS I, severe and attenuated. Symptoms include developmental delays and learning disabilities, large head, clouding of the eyes, and swollen abdomen. Early diagnosis and treatment can lead to better outcomes.

On April 13, 2015, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that MPS I be added to the list of Recommended Uniform Screening Panel (RUSP) disorders. The ACHDNC also recommended that federal funding be provided to states to start screening for MPS I. The Secretary of Health and Human Services accepted the recommendation to add MPS I to RUSP on February 16, 2016. However, the Secretary of Health and Human Services was unable to provide funding to states to implement screening for this condition.

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February 16, 2016—X-ALD added to the RUSP

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder. It occurs when the body cannot break down certain fats called very long chain fatty acids (VLCFA). When VLCFA build up, it affects the nervous system and the adrenal glands. This reduces the ability of the nerves to send information to the brain and the adrenal gland to produce certain hormones. There are 3 types of X-ALD. Symptoms vary based on the type of X-ALD and age of onset. Symptoms can include learning and behavior problems, muscle weakness, seizures, and hearing and vision problems. The condition affects males more than females and can result in early death if not treated early. Available treatments depend on type of X-ALD.

Early diagnosis is important for early treatment of this condition. On September 25, 2015, the Advisory Committee on Heritable Disorders in Newborns and Children (AHCNDC) recommended that X-ALD be added to the Recommended Uniform Screening Panel (RUSP). It was also recommended that federal funding be provided to state newborn screening programs to implement screening for this condition. The Secretary of Health and Human Services accepted the recommendation to add X-ALD to the RUSP on February 16, 2016. However, the Secretary of Health and Human Services was unable to provide funding for states to implement screening for this condition.

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2018

July 2, 2018—SMA added to the RUSP

Spinal muscular atrophy (SMA) is an inherited disorder that affects the nerves and muscles. It affects roughly 1 in 11,000 births. SMA is divided into five types, based on the age when symptoms start. An estimated 54% of cases are type I, and have progressive weakness in the first 6 months of life and death within the first few years of life. An additional 18% of cases are type II, with progressive weakness by 15 months of age and death after the third decade of life. Until recently, only palliative care (nutritional support, physical therapy, and ventilation/respiratory support) has been available for individuals with SMA. In 2016, the Food and Drug Administration approved the first treatment medication for SMA. Studies have shown that, in patients who start having symptoms in the first 15 months of life, the medication can preserve muscular function and help improve motor skills. Also, some research shows that the treatment is more effective when started before symptoms develop.

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) reviewed the findings that showed the benefits of newborn screening for infants affected with SMA. On March 8, 2018, the ACHDNC recommended that SMA be added to the Recommended Uniform Screening Panel (RUSP). The Secretary of Health and Human Services reviewed this proposal and accepted the recommendation to expand RUSP to include SMA on July 2, 2018.

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November 2018—HRSA publishes educational resources

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) published educational resources on their website. These include:

  • Communication guide (PDF - 290 KB) - A communication guide for clinicians and providers to help frame the initial notification and discussion with parents about positive/abnormal/out-of-range newborn screening results.
  • Educational planning guide (PDF - 86 KB) - The Newborn Screening Educational Planning Guide helps newborn screening programs to develop and improve their educational resources.

2019

July 2019—House passes NBS Saves Lives Reauthorization of 2019

On July 24, 2019, the U.S. House of Representatives passed the Newborn Screening Saves Lives Reauthorization Act of 2019. The Senate referred the bill to the Committee on Health, Education, Labor, and Pensions on July 25, 2019.

September 9, 2019—Medical foods for inborn errors of metabolism

Over the past few years, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that medical foods and foods modified to be low in protein should be included as a health insurance medical benefit for anyone with a metabolic condition. Currently, there are no national standards for insurance coverage of these products. Many families face financial hardship because they cannot afford the medical foods needed for their child or young adult.

The ACHDNC completed a review of medical food reimbursement in the United States. They noted that insurance coverage for medical foods varies among states, and saw an urgent need to address this issue. The ACHDNC concluded that it is time to provide stable and affordable access to medical foods required to treat patients who have metabolic conditions. 

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September 30, 2019—Newborn Screening Saves Lives Act expires

The Newborn Screening Saves Lives Act of 2007 was originally passed in 2008 to improve education, outreach, follow-up, and laboratory quality and surveillance in newborn screening. In 2014, the Newborn Screening Saves Lives Reauthorization Act (the Act) extended the legislation for another five years. It was up for renewal again in 2019 but was not passed by the Senate. As a result, the Act expired on September 30, 2019.

2020

November 10, 2020—Discretionary Committee formed

With the expiration of the Newborn Screening Saves Lives Reauthorization Act of 2014, the authorization for Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) lapsed. On November 10, 2020, the ACHDNC was formed as a Discretionary Committee to fulfill the functions previously undertaken by the former ACHDNC.

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December 7, 2020—Review of NBS implementation for SMA

In February 2018, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended the addition of spinal muscular atrophy (SMA) to the Recommended Uniform Screening Panel. On July 2, 2018, the Secretary of Health and Human Services accepted the recommendation. The Secretary of Health and Human Services also asked for a report on the implementation of newborn screening for SMA. In collaboration with experts, the ACHDNC developed the report. It detailed states’ experiences implementing newborn screening for SMA. It also included outcomes of early treatment, including any potential harms, for infants diagnosed with SMA.

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Date Last Reviewed:  September 2021