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Long-term follow-up of sick infants identified through newborn screening still needs improvement, according to a recent report.

Writing in the Morbidity and Mortality Weekly Report, experts from the Centers for Disease Control and Prevention (CDC) and several organizations concerned about newborn screening say that the data from follow-up, and systems to support it, are crucial to developing guidelines for care of rare diseases and improving health outcomes [Howell et al., 2012].

“Newborn screening programs often are focused on diagnosis and short-term follow-up, and long-term follow-up among state programs varies considerably,” the report notes, citing a 2005 survey that found only 56% of state programs do any routine long-term follow-up [Hoff et al., 2006].

The lack of follow-up has been a problem even for success stories like hearing screening. While the report notes that the proportion of US newborns screened for hearing loss increased from 46.5% in 1999 to 96.9% in 2008, nearly 45% of records for infants who did not pass screening lacked documentation of follow-up in a 2009 study [Howell et al., 2012].

But the report notes some states are making good efforts at follow-up. For example, Indiana's web-based tracking and surveillance system, which includes follow-up reminders and quality improvement messages, has led to a dramatic decrease in the percentage of hearing-impaired infants who are lost to follow-up and documentation.

Solving the Problem

  1. Top of page
  2. Solving the Problem
  3. Public and Provider Education Needed
  4. Specialist Availability
  5. References

Multiple efforts across the nation aim to improve care of infants with rare diseases identified by newborn screening. The Newborn Screening Translational Research Network (NBSTRN), run by the American College of Medical Genetics (ACMG), is now ending the fourth year of a five-year contract with the National Institutes of Health to organize a network of state newborn screening laboratories, build an infomatics and biospecimen repository, and create a network of clinical centers that evaluate, diagnose, and treat babies identified by newborn screening, with an eye toward generating data to be used in devising care guidelines for specific rare diseases. The network is also developing tools to electronically capture the information gathered in doctors' offices, with patient privacy protected, and move it into secure data warehouses as permitted by the informed consent of participating patients, says ACMG Executive Director Michael Watson, PhD.

Some states are also tracking infants identified by newborn screening and doing some short-term or long-term follow-up, but more needs to be done, says Susan Berry, MD, Director of the Genetics and Metabolism Division in the Department of Pediatrics at the University of Minnesota in Minneapolis, and a member of the Health Resources and Services Administration's (HRSA) Region 4 Genetics Collaborative, which involves physicians, hospitals, and newborn screening programs in seven states in tracking outcomes for children with methyl chain acyl CoA hydrogenase deficiency (MCAD) and other inborn errors of metabolism. Across the country, “our efforts at collecting information about outcomes are not systematic or uniform,” she says.

Public and Provider Education Needed

  1. Top of page
  2. Solving the Problem
  3. Public and Provider Education Needed
  4. Specialist Availability
  5. References

Lack of public education and physician training on the value of newborn screening is another persistent problem, the report says. It calls upon patient advocacy organizations to help raise awareness and public education. To that end, the report notes, HRSA funded Baby's First Test, a web-based newborn screening clearinghouse for consumers run by Genetic Alliance (GA). The site explains newborn screening procedures and what happens to babies' blood samples, and gives information on 56 conditions included in various state newborn screening programs. It also tells parents what to ask physicians if a child has a positive screening result and offers videos about families affected by a genetic condition first spotted by newborn screening.

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Although 96.9% of US newborns were screened for hearing loss in 2008, almost half of the infants who did not pass screening lacked documentation of follow-up.

GA also helps promote newborn screening in local communities, says Natasha Bonhomme,GA's Vice President of Strategic Development. With GA funding, Washington, D.C.'s National Children's Medical Center made and released videos for both providers and parents about the importance of screening for congenital heart defects, and is promoting newborn screening to authors of pregnancy and parenting blogs. Bonhomme has also discussed parental attitudes about newborn screening at neonatal nursing conferences, emphasizing that these important frontline healthcare professionals don't have as much newborn-screening information as they would like.

Specialist Availability

  1. Top of page
  2. Solving the Problem
  3. Public and Provider Education Needed
  4. Specialist Availability
  5. References

The report also notes a shortage of experts trained to diagnose and manage children identified by newborn screening. That is a situation the American College of Medical Genetics (ACMG) hopes to change by attracting more young people to the specialty. A year-old ACMG program that places first and second year medical students in medical genetics clinics during summer breaks has many more applicants than available spots, so the ACMG helped students form genetics interest groups at their schools. Now the ACMG is developing a web infrastructure to link them, says Dr. Watson.

Because of a nationwide shortage of geneticists, the ACMG also aims to improve genetics training for all physicians. To encourage more genetics in medical school curriculums, the ACMG convinced the National Board of Medical Examiners to increase genetics content in licensing exams and to send letters to medical school deans that show how their students performed on those questions, Dr. Watson adds.

The ACMG is also working to improve genetics knowledge among other specialties by developing information sheets on rare conditions identified by newborn screening. The ACMG is working with the National Library of Medicine to get information from the sheets, including explanations of screening results, how diagnoses will be established, and what to expect for the infant with a condition, into decision support software. The electronic health record at Intermountain Health Care in Utah already uses the information in its decision support system, Dr. Watson notes.

“Newborn screening is at a crossroads,” says Bonhomme “It's natural that programs that have been around for a number of decades are at a point to discuss some harmonization. With more technology and information, it's important to understand the data we have and what direction we want to go,” she adds.

References

  1. Top of page
  2. Solving the Problem
  3. Public and Provider Education Needed
  4. Specialist Availability
  5. References
  • Hoff T, Hoyt A, Therrell B, Ayoob M. 2006. Exploring barriers to long-term follow-up in newborn screening programs. Genet Med 8: 563570.
  • Howell RR, Terry S, Olney R, Hinton CF, Grosse S, Eichwald J, Cuthbert C, Popovic T, Glidewell J. 2012. CDC Grand Rounds: Newborn screening and improved outcomes. MMWR Morb Mortal Wkly Rep 61: 390393.