The Rationale for Newborn Screening
Newborn screening is one of the most effective core public health programs in the United States, having existed since the 1960s based on a blueprint developed by the American Academy of Pediatrics. Newborn screening involves administering tests to all babies shortly after birth to detect a range of serious but potentially treatable conditions before they become clinically evident. Many rare genetic, endocrine, or metabolic disorders that are life- threatening or have long-term health implications can be identified via newborn screening.
Newborn screening is critical because there are so many rare diseases that are very hard to detect. In fact, if you can’t detect them shortly after birth it can take years to get properly diagnosed, and for many rare diseases that are progressive there’s a lot of irreversible damage that can happen during that time. Now we can not only detect these diseases at a very young age, but in some cases, we can treat them with medicine that is potentially transformative and lifesaving. – MAX BRONSTEIN, FORMER CHIEF POLICY OFFICER, EVERYLIFE FOUNDATION
Screening of newborns allows for earlier intervention and treatment, where it is available, which can lead to better health outcomes for affected patients and reduce or prevent disability or death. Four million infants are screened at birth in the United States every year and approximately 13,000 of these infants are diagnosed with one of the 35 core conditions that are currently included in the uniform screening panel adopted by the Department of Health and Human Services.
Newborn screening saves lives. Early diagnostics around newborn screening allows for early access tor treatment. For the conditions we know are asymptomatic, treatment can make all the difference. The earlier you start treatment, the greater the impact of the treatment for the individual. Newborn screening saves lives. – DYLAN SIMON, ASSOCIATE DIRECTOR OF PUBLIC POLICY, EVERYLIFE FOUNDATION
Newborn screening involves a quick and easy opt-in service involving a blood test, a hearing screen to detect hearing loss, and pulse oximetry, a non-invasive test that measures oxygen in the blood to check for serious, life- threatening heart defects. In short, newborn screening allows for early detection and prevention of disease in newborns, reduces disease-related morbidity, and improves quality of life and longevity for patients with rare disease.
State and Regional Newborn Screening Policy in the United States
Recommended Uniform Screening Panel.
The healthcare systems of all developed countries provide access to newborn screening, as do all 50 states in the United States, the District of Columbia, Puerto Rico, the U.S. Virgin Islands, and Guam. A federal Advisory Committee on Heritable Disorders in Newborns and Children determines the conditions that are screened, which are known as the Recommended Uniform Screening Panel (RUSP). Currently, 35 conditions are in the RUSP (Table 1 shows specific examples):
Amino acid disorders (6)
Congenital heart disease
Endocrine disorders (2)
Fatty acids oxidation disorders (5)
Inborn errors of metabolism (2)
Lysosomal storage disorders
Organic acidemias (9)
Severe combined immunodeficiency
Spinal muscular dystrophy
Table 1. Examples of RUSP Core Condition Rare Diseases
To be included as a core RUSP condition a disease must meet these three criteria:
1. The disease must be amenable to identification at a time when it would not ordinarily be clinically detected (i.e., 24-48 hours after birth).
2. There is a test available that is sensitive and specific to the particular condition.
3. There is a treatment for the condition.
The RUSP also includes 26 secondary conditions. The RUSP list is revised to include additional conditions as new therapies and tests for heritable diseases are discovered. You can find a printer-friendly version of the screening panel conditions here.
How can I find out which newborn screening panel my state uses?
The RUSP is informed by an Advisory Committee on Heritable Disorders in Newborns and Children established by the Secretary of Health and Human Services. Individuals and organizations can submit nominations for conditions that should be included in the newborn screening core panel. The committee website provides guidance on submission here. EveryLife Foundation for Rare Diseases also has an online map that shows what is included in the newborn screening panels for individual states. Contact your state representatives if your state doesn’t screen for all rare conditions included in the RUSP.
State Screening Programs
While the federal RUSP recommends screening for 35 core and 26 secondary conditions, states are not required
to screen for all the conditions in the panel. Each state designs, coordinates and manages its newborn screening program and determines which RUSP and secondary conditions to include. According to the Everylife Foundation, some states screen for 30 diseases, while others (e.g., California) for more than 80 disorders. Some states (e.g., California) operate under an auto-inclusion policy, in which any disease included in the federal panel is automatically included in the state panel. Other states decide their own newborn screening panel in response to recommendations from advisory panel experts or state health department personnel, or as a result of changes in legislation.
Who Pays for Newborn Screening?
Newborn screening programs are funded in various ways. Most states collect fees from healthcare providers for screening, ranging from $15 to $100 per newborn. Some birthing facilities pass fees that states collect from them on to parents through charges for maternity care. In most states, private and public health insurance programs, such as the State Children’s Health Insurance Program or Medicaid, provide partial or full coverage for screening fees. Regardless of the system in each state for funding newborn screening services, screening is available for all newborns regardless of parental ability to pay, insurance, or other third-party coverage.
Public Health Laboratories
In most states, local or state public health laboratories collect and test newborn blood samples. Some states use private laboratories (e.g., PerkinElmer) and some states conduct testing on behalf of other states (e.g., Massachusetts does all the testing for states in New England). There are published guidelines to ensure that public health laboratories meet certain quality standards for analysis and reporting of newborn screening samples. In addition, the Mayo Clinic and Collaborative Laboratory Integrated Reports have developed databases and pattern recognition software that laboratories can use to report and analyze newborn screening results based on variables (e.g., age, birth weight, sex) and interpret results according to the known range for a particular disease. The Centers for Disease Control and Prevention manages a Newborn Screening Quality Assurance Program that provides training, guidelines, and support for public health laboratories responsible for screening in the United States and other countries.
Tandem mass spectrometry (also known as MS/MS) is the main technique used to screen newborn dried blood samples. This cost-effective technique is especially effective when used to screen for inborn errors of organic acid, fatty acid, and amino acid metabolism. Whole exome sequencing, a newer technology described below, is currently being studied as a complementary screening technique that could reduce false-positive results among newborns with abnormal MS/MS findings.
Newborn Screening Research
ScreenPlus is an ongoing study in New York that is offering a routine newborn screening test for more than 50 heritable disorders that can be treated. In this study, newborns are being screened for an additional 14 rare conditions that are not currently included in New York’s RUSP (Table 2).
Shortening the Timeline from RUSP to State Panel Implementation
The implementation process and timeline of newborn screening varies across states. Dylan Simon of the EveryLife Foundation for Rare Diseases notes that patient advocacy organizations work for decades with community leaders to develop the evidence necessary to ensure that RUSP nomination packages are ready for review by the Advisory Committee for Heritable Disorders in Newborns and Children. Yet once conditions have met the evidentiary requirements of RUSP addition, those same organizations and patient communities face an additional hurdle of state implementation. There is often a substantial lag between the addition of a condition to the RUSP and when states include this condition in their own screening panels, even if an approved therapy is available. For instance, there has been an approved therapy for Pompe disease for a decade, yet many states do not include this condition on their newborn screening panels.
The EveryLife Foundation is currently advocating for legislation to shorten the timeline between when a condition has been added to the RUSP and when it is added to state panels. This legislation would require that states automatically screen for any condition that has been added to the RUSP, mandate a timeline for adding a RUSP condition to the state panel within three years, and identify a long-term source of funding for the new test. This legislation has already passed in California and Florida.
Patient advocacy organizations like Texas Rare Alliance are also leading the effort to add new conditions to state panels when they are included in the RUSP. Khrystal Davis, Rare Parent and founder of Texas Rare Alliance explains that much of this advocacy effort focuses on securing funding
to ensure that screening laboratories have the technology, tests, assays, processes, and personnel required to implement screening when a new condition is included on the panel. To this end, Texas created a newborn screening preservation account to ensure the availability of screening implementation funds for new conditions as soon as they are included to the RUSP. Texas Rare Alliance advocacy in Texas has also led to a reporting requirement in which public health laboratories involved in newborn screening are required to provide a status update about how they are preparing to implement screening for new conditions added to the RUSP.
Davis emphasizes the important role that patient advocates play in raising awareness within state screening advisory committees about rare conditions that might be included in the RUSP.
Once interim data accrues for a condition for which treatment is being investigated in a clinical trial, if that data is favorable, you can attend the newborn screening advisory committee meeting for your state to provide public comment and let the committee know that this is a condition that they are likely to see on the RUSP in the coming years. You might think, “Why do this if it takes years for a condition to be included in the RUSP?” Newborn screening laboratories must determine their preparedness to screen for a future condition, and this is also a lengthy process. Is it simply a matter of adding a new reagent or do they have to acquire equipment? This is a big concern. Newborn screening laboratories are running out of space and they need to know early that screening for new conditions is coming, the type of equipment they’ll need to implement screening for the new condition, and whether they’ll need to expand the workforce. These are all questions that newborn screening laboratories have to address before they can implement newborn screening for a new condition.
Each year, the National Organization for Rare Disorders (NORD) evaluates how effectively states are serving people with rare disease and publishes results in its State Report Card. The report card includes a dropdown menu from which you can learn exactly how your state ranks in terms of the following criteria:
- Screening for RUSP Conditions: the more RUSP conditions included in a state screening panel, the higher the grade.
- Adding RUSP Core Conditions: States are awarded a higher grade if they have an efficient and effective process to add conditions to their state panel following addition to the RUSP.
- Funding: States that have a robust funding program in place receive a higher grade.
- Dried Blood Spot Use: States that retain and use DBS for research purposes achieve a higher grade.
- Advisory Committee: States are graded highly if they convene an advisory committee that includes governmental and non- governmental members that meet once or more a year.
Newborn Screening Bootcamp
There is a strong need for advocacy at both the state and federal level to ensure that newborn screening programs add new diseases to screen for as new treatments are developed. The EveryLife Foundation for Rare Diseases runs an educational bootcamp in partnership with Expecting Health at Genetic Alliance to provide resources and education to patient advocacy groups on the newborn screening system and how to engage in the RUSP nomination process.
Newborn Screening Bootcamp seeks to identify areas to improve, discuss, and build a coalition of stakeholders from industry, public health labs, patient advocacy organizations, and federal agency representatives to address “How can we work with each other? What do you need from us when we start this line of communication?” The bootcamp is typically held the weekend before the Association of Public Health Laboratories (APHL) newborn screening symposium in October. State public health leaders from around the country come to the APHL symposium to discuss developments in newborn screening.
At the core of the bootcamp is the idea that newborn screening is a system, not simply a public health lab test. The “before and after” of a test can be equally as important as the test itself. Nurses require specialist training on bloodspot technique, the bloodspot needs to couriered to the public health lab in a timely fashion, and follow-up includes genetic counseling, treatment planning, and identifying a path to access treatment. Education about newborn screening is also required to ensure that healthcare providers are up to date on developments in newborn screening. – DYLAN SIMON, ASSOCIATE DIRECTOR OF PUBLIC POLICY, EVERYLIFE FOUNDATION
When is Newborn Screening Performed?
All newborns, whether born in- hospital, out-of-hospital, or admitted to neonatal intensive care units, should be screened. Many parents are unaware of newborn screening or of the conditions included in screening. During pregnancy, especially if a rare disease runs in your family, talk to your prenatal healthcare provider (e.g., obstetrician/ gynecologist or midwife) before your due date about newborn screening. These healthcare providers should educate you about the importance of newborn screening and what to expect.
Are Newborns Screened If No Treatment Exists?
Newborn screening is performed in all 52 states. If there is a family history of rare disease that is not covered by the 35 core conditions included in the RUSP, or for which there is no current treatment, parents can request additional or supplemental screening. Newborn screening in the absence of known treatment can play an important part in developing new therapies or identifying carriers of a condition. Although state screening programs do not offer additional or supplemental screening, many private or non-profit companies provide resources and information about ordering additional newborn screening tests.
- Baylor Medical Center Institute of Metabolic Disease
- Mayo Medical Laboratories
- PerkinElmer Genetics, Inc
- University of Colorado Expanded Newborn Screening Program
Baby’s First Test, a website and resource hub that provides information about each state’s newborn screening program and the conditions included in testing, recommends asking the following questions:
- When does newborn screening occur?
- What conditions does newborn screening cover?
- How soon after screening will I get newborn screening results?
- How will I receive newborn screening results?
- How much does newborn screening cost?
- Which supplemental screening tests should I consider?
Newborn Screening Timeline
Newborn screening usually occurs 24-48 hours after birth. Baby’s First Test offers a downloadable screening checklist and timeline. Some states require a second newborn screening test when the baby is two weeks old to ensure result accuracy. If you plan a home birth, talk with your healthcare provider about scheduling a newborn screening test.
A blood spot specimen by heel prick should be obtained from a newborn as close to hospital discharge as possible. The blood sample for screening is obtained via a heel prick to the newborn’s foot and placed on special filter paper. Parents can be part of this process by holding their baby while the blood sample is collected. The birthing facility is responsible for obtaining, processing, and delivering a heel prick blood test to the designated screening laboratory in your area. Your birthing facility should also document in your discharge notes that newborn screening was performed, as well as the name of the primary care provider as a contact for any abnormal result.
Dried Blood Spot Test
The sample is sent to the laboratory for analysis. A small amount of residual dried blood remains on the filter paper after the laboratory runs initial and, if necessary, secondary screens on the heel prick sample. This dried blood spot (DBS) can be used for research purposes, such as developing new newborn screening tests.
The DBS might be used for any of the following purposes:
Quality assurance or quality control (e.g., to ensure that screening tests are accurate)
Developing new tests or improving existing technology
- Supporting clinical studies and biomedical research
States vary in their policies for using DBS samples, but any information that could link the sample to a newborn is removed to protect patient privacy. Each state regulates and ensures that residual DBS samples are not used unlawfully or without parental permission.
Obtaining Screening Results
States vary in the process they use to communicate screening results to parents and providers. If results are out of a normal range and indicate risk for a rare disorder, the public health laboratory where testing is done will usually contact the baby’s pediatrician or primary care provider or healthcare providers at the facility where the baby was born. Either the public health laboratory or healthcare providers will contact the family for confirmation testing, and, potentially, specific genetic testing. Most state testing programs require that a healthcare provider be informed of results, such as the clinician recorded at the birth or the primary care pediatrician. While time is of the essence in newborn screening, public health laboratories might only run newborn screening tests two or three days a week and it can take five to seven days to report results.
What Happens After a Positive Test?
Most screening results are normal or negative. Healthcare providers or public health laboratories do not usually communicate with parents if
the screening test is negative. False- negative results can occur in infants born prematurely or in newborns tested within 24 hours of birth. Texas is the only state in the United States that screens babies twice to reduce the risk for a false negative.
Having an abnormal result does not necessarily mean that a newborn has a rare disease. Tests can also show a false positive or a result that is outside the normal range of results. A false positive can occur for many reasons, including the timing of the test or the size of the initial blood sample.
If results are positive or outside the normal range of possible results, newborns require further or confirmatory testing as quickly as possible. Healthcare providers such as the newborn’s pediatrician will order a new blood sample to confirm the initial test results. Sometimes, confirmatory testing using a more sensitive test will be performed on the original newborn screening specimen. The healthcare provider should also communicate with parents about next steps in the follow- up of a newborn that has had a positive screening result.
Newborn screening is not the same as diagnostic testing. Following a confirmed positive newborn screen, your pediatrician or primary care provider should refer you to a specialist for examination or confirmatory/ diagnostic testing. Each of the core conditions included in the RUSP has its own unique confirmatory test.
Follow-Up Family Testing
When an infant is diagnosed with a rare disease on the basis of newborn screening, pediatric care providers should organize cascade testing of other family members, refer parents to a genetic counselor, and coordinate with family support services.10 Following screening, if certain conditions are diagnosed in a newborn (e.g., X-linked adrenoleukodystrophy), first-degree family members should be offered testing to see if they are carriers or are affected by the condition. The American College of Medical Genetics and Genomics has a genetic clinic finder here.
Brittany’s Story: Newborn Screening Saved My Daughter’s Life
It’s not really on the radar of most parents that their newborn might have a rare disease. My daughter was pretty sick. We found out on day seven that it was galactosemia that was causing her issues. It took about seven days for us to get our [newborn screening] tests back. It’s a metabolic genetic condition and both parents must carry the mutated gene. We didn’t know that we were carriers.
She was premature and so we were already watching her for signs of a lot of issues. And she just stopped thriving, she was losing weight, she stopped eating or waking up. We did a feed tube and then they started noticing her liver was showing enzymes that it shouldn’t be. We couldn’t figure it out. And then of course, day seven, the newborn screen came back and they said, “Oh, she’s got a genetic rare condition and it can kill her, you know, in 10 to 14 days.” We caught it three days before she would have been at the point where she may have not returned to being healthy child. Newborn screening saved her life.
– BRITTANY CUDZILO, GALACTOSEMIA FOUNDATION
Can I Opt Out of Newborn Screening?
Some parents want to opt out of screening for religious reasons and most states allow this. Other parents might feel cautious about newborn screening because they are unaware of, or do not understand its benefits. At the same time, healthcare providers might assume that parents are familiar with newborn screening.
There’s a mom in our community who openly talks about how she had said no, she was not going to do the newborn screen. And her nurse kept telling her, “You really should do this. You really should do this.” Finally, she gave in and found out her son had galactosemia. He would have died if this nurse hadn’t been persistent. I never said don’t do it, but I wonder how many nurses are that persistent. My OB didn’t talk to me about it and I didn’t really understand there were 70 different things they’d be testing for. I trusted them. I said, yes, do it. But I did that blindly and I feel like people should be more educated. If I had said no, my daughter would not be here. And that would have happened really quickly, so it’s worth it. Even if it’s rare, and you really don’t think it’s going to happen to you, it’s a little heel prick, it’s not going to be something that is going to affect your child’s life in a negative way. You can only affect your child in a positive way.
Ask your prenatal providers about what newborn screening involves.
Learn what conditions are included in your state’s newborn screening panel.
Advocacy to Improve Testing Turnaround Times
It can take five to seven days to report newborn screening results and in some states, results can be delayed. For instance, public health laboratories might only run newborn screening tests two or three days a week. Time is of the essence in newborn screening because some conditions are life threatening and require urgent treatment.
Brittany Cudzilo recommends that parents ask about the anticipated time it takes to receive results when the heel prick is done.
Patient advocacy organizations are working to improve the turnaround time of newborn screening tests and identify ways to expedite these services more rapidly. The EveryLife Foundation for Rare Diseases program, Finding Zebras, creates partnerships between patient advocates and state public health laboratory leaders who implement newborn screening.
After Screening, Who Is on the Team?
Pediatricians usually coordinate the diagnostic testing and care of newborns with a positive newborn screening result and are known as the medical home. Brittany Cudzilo says that it is important for parents to be aware of the different roles of pediatricians and genetic counselors after a rare disease diagnosis.
Galactosemia is so rare that most doctors have never seen it. They may have had a small 15-minute discussion about it in medical school, but they don’t know about it. We have East Tennessee Children’s Hospital in our area, and they had just hired a genetic doctor six months before my daughter was born, and they were creating that [service] for their hospital. He was the one who we got connected with. He knew more about the condition and we still see him every three to six months just to look at her. We can do bloodwork to look at her levels and her body and he’s the one that connected us to Tennessee Early Intervention Services. Our pediatrician is there if we have an ear infection or we need vaccinations, things like that. And he talks to our genetics team, but our genetics team really is our main source of information for our daughter. – BRITTANY CUDZILO, GALACTOSEMIA FOUNDATION
What is Genetic Testing?
Genetic testing can improve the health and quality of life of newborns with a positive screening test by pointing to tailored interventions and therapies to treat disease or prevent complications. Genetic testing identifies the genetic basis for the rare condition and provides information to help parents make healthcare conditions.
Genes are the basic unit of heredity that tells cells which specific proteins to produce. Proteins affect physical characteristics such as eye and hair color and can lead to certain genetic diseases. Genetic testing is used to identify changes in chromosomes, genes, or proteins. The results of these tests can confirm or rule out suspected genetic conditions. Medicare and Medicaid provide coverage for screening on a state-to-state basis and many organizations are working to expand coverage around genetic testing.
Genetic testing might also be an option for first-degree family members if a newborn is diagnosed with a rare disease following screening. There are risks and benefits to genetic testing, including the possibility of false-positive and false-negative results. Prior to testing, it is important to talk with a genetic counselor, clinical geneticist, or clinician with rare disease expertise to review the value and potential implications of testing results. Once you receive a diagnosis for your child, you should expect to be connected with a genetic counselor, clinical geneticist, or clinician with rare disease expertise who will review the value and potential implications of testing results. Genetic counselors want to ensure a testing plan that works for your family and identify the best version of treatment for the newborn. Learn more about genetic counselors at the American Board of Genetic Counseling and National Society of Genetic Counselors.
Types of Genetic Test
There are differences in the types of genetic testing to identify inherited or heritable risk. Genetic tests analyze different numbers of genes and different numbers of variants within those genes. Genetic tests use several assay types and DNA analysis platforms to evaluate variants in a single gene or to analyze multiple variants at the same time. Talk with your physician to identify the approach to genetic testing that is best for your newborn.
Single Gene Testing
Single gene panels are valuable to identify a disorder that is linked to a particular gene. For instance, spinal muscular atrophy (SMA) is a rare disease that is on the federal recommended screening panel and on about 50 percent of state panels, a number that will continue to increase in the coming years. The specific gene mutation that causes SMA is clear. The ability to use a single gene panel can target testing.
When variants in one of several genes could be the cause of a rare disease (e.g., hereditary platelet function disorders), a panel of multiple genes and variants within those genes is used for testing.
Whole Exome Sequencing
The exome is the part of the human genome that codes for proteins. Genetic mutations are often located in the exome. Whole exome sequencing examines the protein coding regions in a gene and yields a large volume of information to analyze, and results might not be available for many weeks. Sequencing the exome is more targeted than sequencing the whole genome and is more costly than many other tests.
Coverage for broad genetic testing is vital because if you’re working to identify someone with a rare disease, coverage should not be an extra hurdle. Broad coverage of genetic testing allows patients to receive the best care that meets their specific needs. – DYLAN SIMON, ASSOCIATE DIRECTOR OF PUBLIC POLICY, EVERYLIFE FOUNDATION
Whole Genome Sequencing
This test sequences the entire human genome and identifies specific mutations. Whole genome sequencing is mostly used in the context of a clinical trial but can be used when results from exome sequencing or other forms of genetic testing are inconclusive. In Canada, the Canadian College of Medical Geneticists published a position statement to recommend whole genome sequencing as an appropriate option for the diagnostic assessment of patients in whom there is a suspicion of genetic disease that is heterogeneous or where other genetic tests have failed to provide a diagnosis. Patient advocacy organizations in the United States are also working to include whole genome sequencing as part of the testing offered after a positive newborn screening test.
This Global Genes Toolkit provides more information on types of genetic tests, the risks and benefits of testing, and the limitations of testing.
Treatment After Newborn Screening
Even though newborn screening identifies rare diseases for which there are treatments, these therapies can be complex and expensive (such as stem-cell transplant or enzyme replacement therapy). In some diseases, such as Pompe disease or X-linked adrenoleukodystrophy, patients might not require treatment until later in childhood or adulthood.6 If your newborn is diagnosed with a rare disease following screening, talk with your pediatrician about available treatments, the timing of treatment, and the potential for joining a patient registry for the diagnosed condition. There is a lot of information to absorb following diagnosis of a rare disease. Brittany Cudzilo recommends taking three to six months to come to terms with this information, avoid thinking too far ahead, and plug into a support community.
Community is really encouraging and brings a lot of hope when you talk to other parents who are two, three, five years ahead of you. They’re going to be a lot more helpful than your doctors. Just to hear: “How did this play out? What recipes do you use? What baby food did you start? What did you send in your school lunches? When you talk to a teacher to tell them about the condition, what do you say?” All of that is really going to come from our community. I always try to get people plugged in as quickly as possible to other parents. We have a Facebook group and just allow them to kind of watch and listen and learn from other families. – BRITTANY CUDZILO, GALACTOSEMIA FOUNDATION
Khrystal Davis of Texas Rare Alliance emphasizes that patient registries are vital for a comprehensive picture of the spectrum and natural history of rare diseases and participating in patient registries offers a way to support research on conditions that are not yet included in the RUSP. Disease-specific registries focus on both research and ongoing clinical quality improvement. Some pharmaceutical companies have developed disease-specific registries for conditions that are included in the core newborn screening panel (e.g., Pompe disease and spinal atrophy).6 Other patient registries for rare diseases, like KIF1A for instance, are linked with academic research organizations, and designed to gather and analyze comprehensive, longitudinal data collected from families diagnosed with KIF1A Associated Neurological Disorder (KAND).
The Newborn Screening Translational Research Network has developed the Longitudinal Pediatric Data Resource as a tool to foster collaboration between research teams, state newborn screening programs, clinicians, patient advocacy groups, and families; and support access to disease management and treatment. Learn more from Global Genes about patient registries here.
Advocating for Rare Disease Clinical Trials
Many patient advocates and advocacy organizations emphasize that while it is important to design clinical trials to test therapies for rare diseases, and screen for conditions that could benefit from those therapies, it would be valuable to also screen newborns for conditions without therapies to identify potential candidates for population studies and clinical trials. As genomic medicine has become more established, and new techniques have emerged for mass screening of multiple disorders, such as next generation sequencing,12 the number of conditions on the RUSP will continue to grow.
Dylan Simon of the EveryLife Foundation observes that as a policy objective, newborn screening is a long process and it can take many, many years to get on the RUSP. “Once you have a treatment, he says, “it’s a little too late. We need population-based studies and to ensure that the follow up program is properly identified. We recommend building a coalition and getting started as early as possible.”
Global Genes, patient advocacy organizations for specific diseases, and pharmaceutical companies provide information about conditions under investigation in clinical trials as well as news releases about interim clinical trial data.
“We know that there are over 7,000 rare conditions and we are not even screening for 1 percent. We can do better. We cannot treat what we do not diagnose.” – KHRYSTAL DAVIS, RARE PARENT, FOUNDER, TEXAS RARE ALLIANCE