September is Newborn Screening Awareness Month and this year marks 50 years since the beginning of this life-changing public health program. Wilson and Jungner developed what is considered to be the gold standard for selection of conditions suitable for screening, which includes the ability to detect the condition at an early stage and the availability of an effective treatment. However, the ethical principles that have guided newborn screening for the past 50 years have been increasingly challenged as new technologies have emerged to screen for more conditions.
Earlier this month, the NIH announced funding for a new initiative that will involve genomic sequencing of 2,000 newborns. $25 million over 5 years has been awarded to four institutions to help determine how useful sequencing information is for families and doctors, and whether it is better than current newborn screening programs which check for about 60 genetic disorders, but vary from state to state.
Each of the projects will take a three-pronged approach and study genomic sequencing and analysis; research related to patient care; and the ethical, legal and social implications of using genomic information in the newborn period. Some of the complex and thorny questions to be investigated are:
Do we know enough about the relationship between genes and health to make genomic data useful in preventing disease? Studies have found that sequencing can identify abnormal genes in 15–50% of children with undiagnosed diseases, but is there any benefit for healthy children? When a gene variant is identified, it is not always clear what the health implications are for the person who has it.
What type of genetic information should be reported to parents? Some of the funded projects will check for genes associated with diseases that may occur later in childhood or adulthood. Each study is taking a different approach to how it will inform parents about risks for future health problems.
Is newborn genomic sequencing cost-effective? Current newborn screening heel-stick tests cost about $100 per infant, including some follow-up care. Some partial sequencing is available for under $1,000 and whole genome analyses cost about $5,000, but these costs are expected to drop quickly. The number of false positives would increase with the expansion of newborn screening, leading to extra expenses for follow-up, but the additional cost may be worthwhile if the number of preventable disorders can be increased.
Who owns the genetic data? None of the funded projects plan to give the raw genetic data to the children’s families. Children could potentially benefit from this information as they grow into adulthood, but researchers feel that interpretation of sequencing data is still so difficult that it should not be released.
Should the data be shared with other researchers? Coordinated efforts can help scientists better understand how genes contribute to disease. One of the funded projects will share data with the National Institute of Child Health and Human Development’ s Newborn Screening Translational Research Network, and another with the National Center for Biotechnology Information’s Database of Genotypes and Phenotypes.
Clearly, the tenets of newborn screening have been modified over time and will continue to be revised. Results of a recent study indicate that most parents would be interested in genome sequencing for their newborn. What concerns do you have about genomic sequencing for newborns?
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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