Individuals with genetic diseases often face an excruciatingly long diagnostic odyssey. Between the time they first experience symptoms and the time they get a definitive diagnosis, some see the disease progress, others suffer irreversible damage, and many may experience significantly decreased quality of life. By identifying some of these diseases very early in life, newborn screening programs save and improve the lives of thousands of infants in the U.S. every year.
State-run screening programs can identify many affected individuals at birth, but their fragmented nature and delays in incorporating new tests results in unnecessary suffering for children born with addressable disorders who go undiagnosed because they are born in states that move slowly to adopt screening tests.
Newborn screening programs, which can reach virtually all of the 4 million babies born in the U.S. each year, currently monitor for 60 rare and genetic conditions. An abnormal test result triggers a confirmatory test, such as gene sequencing, and potentially leads to a full diagnosis within two weeks.
Despite the importance of these programs, little comprehensive data on their adoption is available because they are managed at the state level. As biopharmaceutical strategists and a former diagnostics executive, we help companies think through the realities of addressing rare and genetic diseases, including understanding how many patients there are and how they are diagnosed. This prompted us to spend some time investigating newborn screening programs. Although we are largely inured to the structural inefficiencies that plague the U.S. health care system, we were dismayed to discover that it can take years from the time a new screening test becomes available to its adoption in all 50 states.
The lengthy process of approving and implementing a new test robs children, their parents, and health care providers of the chance to intervene early and prevent unnecessary suffering and damage.
Developing a reliable, robust, and economically viable screening test is a long haul. Once a test becomes available, a nomination package is submitted to the Advisory Committee on Heritable Disorders in Newborns and Children, which is part of the federal Department of Health and Human Services. This committee, made up of pediatricians, genetics experts, and others, determines if there is sufficient evidence to convene a group of outside experts to evaluate whether the new test meets the criteria for inclusion in the Recommended Uniform Screening Panel. If this group approves the new test, it is then up to the HHS secretary to make a final decision on whether it should be included in the panel.
A new screening test that survives this process still has a long way to go before being implemented: disease advocacy organizations, affected families, their physicians, and biopharmaceutical companies must then lobby individual states to include the test in its newborn screening panel. Our research indicates that it typically takes 10 years or more before a new screening test reaches all U.S. newborns.
Take the example of cystic fibrosis, a well-known genetic disease that can lead to early death from respiratory failure. It was the first disorder proven to arise from mutations in a single gene, called CFTR. Colorado was the first state to add screening for cystic fibrosis, in 1982, but it wasn’t until 2014 that all U.S. newborns were tested for it (see the chart below). During this 32-year period, thousands of children born with cystic fibrosis were not diagnosed in a timely manner and missed early-life interventions that could have mitigated the complex respiratory, growth, and digestive issues associated with it.
The long road to nationwide adoption of newborn screening for cystic fibrosis sadly appears to be typical. Severe combined immunodeficiency is a rare genetic disorder that is sometimes called “bubble baby disease” because individuals who have it are so vulnerable to infections that they must live in a sterile environment. Diagnosis of severe combined immunodeficiency in the first weeks of life provides a critical opportunity to protect children from persistent infections and to consider potentially curative bone marrow transplant or gene therapy.
Yet despite the development of a successful screening test in 2008, and its addition to the Recommended Uniform Screening Panel in 2010, two states (Indiana and Louisiana) had not added it to their newborn screening programs as of March 2018 (see the chart below).
Families affected by rare diseases that aren’t included in newborn screening panels face even greater hurdles as they search for a diagnosis. Spinal muscular atrophy, a disorder affecting nerves that control muscles, is the leading genetic cause of death for infants. Some families are willing to pay several hundred dollars for screening. Unfortunately, many affected families do not have the resources, or the awareness, to seek out testing on their own.
That affected families must figure this out for themselves underscores a basic problem with our current approach to newborn screening. It is inefficient, and arguably cruel, to place responsibility for advancing screening tests on affected families and their physicians who are grappling with the hard realities of caring for children with often devastating and poorly understood diseases.
We offer three suggestions for helping the health care community improve the newborn screening systems in place and accelerate the nationwide adoption of new tests.
Engage interested parties early. Raising awareness of a disease that could be included in the newborn screening panel among families, physicians, and advocacy groups is an important place to start. Getting them to promote the test within state legislatures and health departments is another important step. If advocacy does not exist at the national level, launching or backing an umbrella organization of local groups can help create a presence before Congress and HHS.
Petition the advisory committee quickly. Even if the Advisory Committee on Heritable Disorders in Newborns and Children rejects a new test, going through the process will raise awareness to support re-nomination and provide valuable feedback for further development.
Increase funding for test development and improvement. Increased funding from patient advocacy organizations, biopharmaceutical companies, and government sources to develop new tests, as well as investments that improve established newborn screening tests or reduce their cost, would speed the adoption of new tests and lead to earlier detection of genetic diseases while streamlining overall program costs, a major hurdle for many states.
Newborn screening programs save lives, prevent serious injury to thousands of infants each year, and shield affected families from out-of-pocket costs. It’s time to take the responsibility for introducing new tests off the backs of affected families and physicians struggling to cope at the edges of modern medicine and ensure that children don’t suffer needlessly because they were born in the wrong state.
Robert Moy is a principal at Clarion Healthcare, a life sciences consultancy whose clients include pharmaceutical and biotech companies. Seamus Levine-Wilkinson, Ph.D. is a manager at Clarion Healthcare. Joseph Sterk is an independent consultant and former diagnostics executive.