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Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening

Hastings Investigators: Erik Parens and Josephine Johnston

NSIGHT Project Principal Investigator: Barbara Koenig, University of California, San Francisco

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Human Genome Research Institute

As the cost of genome sequencing decreases, researchers are considering whether all newborns could be sequenced at birth, facilitating a lifetime of personalized medical care. They are also investigating the use of sequencing technology in the care of sick babies, especially when a diagnosis is elusive.

To manage expectations and guide the appropriate adoption of sequencing in all of these contexts, The Hastings Center worked with a team at University of California, San Francisco, to identify and examine the ethical, legal, and social implications of the application of genome sequencing in newborns. In this four-year interdisciplinary investigation, we examined the ethical and policy issues accompanying the use of genome sequencing in newborns in three contexts: as part of clinical care, including care in the newborn intensive care unit; as part of state-sponsored newborn screening programs; and as a direct-to consumer service.

The project’s recommendations can be found in The Ethics of Sequencing Newborns: Recommendations and Reflections, a special report of the Hastings Center Report. The report was edited by Johnston, Parens, and Koenig, and includes recommendations and essays from members of the project’s Ethics and Policy Advisory Board. The board’s recommendations include:

  • Genome-wide sequencing should not be implemented as a universal screening tool in newborns. Sequencing the entire genome may result in the return of genetic data of unknown or uncertain significance and may not yield actionable results. Results can generate unnecessary distress and require health resources for follow-up monitoring and care. And the cost of universal genome-wide sequencing would stretch the operating expenses of state-funded newborn screening programs, undermining the effectiveness of their operations.
  • Integrating targeted genome sequencing into newborn screening programs may be appropriate when it is the best way to identify a condition that meets existing screen criteria—it affects a newborn’s health, programs are able to fund screening and follow-up care, and effective treatments are available. Targeted genome sequencing may also be appropriate to confirm a diagnosis and provide additional prognostic information after initial screen results.
  • Targeted or whole-genome sequencing can be used to assist in the diagnosis of a symptomatic newborn. Sequencing these newborns may end the search for a diagnosis, informing medical management.
  • Health professionals should recommend against parents’ seeking direct-to-consumer genome sequencing for either diagnosis or screening of their newborn. The use of DTC genomic testing in children conflicts with clinical and professional guidelines, which limit testing to clinical contexts and for conditions that manifest during childhood. Most testing services also lack sufficient consultation and follow-up to assure accurate interpretation of results.

The report is available for free here.