Empowering Fertility - Obtaining Genetic Blueprint at Birth: New Government Study  

Obtaining Genetic Blueprint at Birth: New Government Study  

By Paul Bergh, MD

The National Institute of Health has launched a voluntary pilot project called Genomic Sequencing and Newborn Screening Disorders. The project is designed to help answer the question: can genetic sequencing provide useful medical information beyond what is currently available through newborn screening? A genomic sequence is an individual’s genetic blueprint. If this blueprint is available from birth, physicians might be able to develop personalized regimes for health and wellness, as well as personalized medical treatment for any diseases discovered or that may emerge in the future.

The project is currently funded at $25 million over the next five years.  Currently, there are four participating centers:

  1. Brigham and Women’s Hospital, Boston
  2. Children’s Mercy Hospital, Kansas City
  3. University of California, San Francisco
  4. University of North Carolina at Chapel Hill

Right now, more than 4 million infants born in the United States each year undergo some form of newborn screening. Through this pilot project, researchers at each center will be tasked with implementing genomic technology to sequence the exomes of a diverse population of newborns. This project will focus on three parts:

  1. Genomic sequencing and analysis
  2. Research related to patient care
  3. Ethical, legal and social implications of using genomic information in the newborn period

The hope is that best practices will be developed, both for implementing this testing and for delivering these results to both physicians and parents. The researchers will explore the ethical, legal and social issues that will impact how doctors and patients make informed decisions as they confront this new technology. For example, should doctors disclose to parents the presence of a mutation they are not sure will actually cause a disease?  What should be done with the information that indicates whether a child will ultimately develop a disease for which there is no treatment?   The expectation is that this program will be expanded in the coming years to including approximately 14% of the 4 million babies born each year who are admitted to a neonatal intensive care unit in the US.

As part of this project, a study was published this month in the journal Genetics in Medicine by the group at the Brigham and Women’s Hospital that queried 514 parents within 48 hours the birth of their child.   Parents were asked to indicate their interest in this testing with one of the following categories: not at all, a little, somewhat, very or extremely interested. 83% of the parents had some level of interest in testing with 46% indicating they were very or extremely interested in this screening. Interestingly, parents with health concerns about their infant and married participants were less interested in genomic screening. Close to 25% of couples were at least two categories different in their response.

We are on the threshold of an exciting and troubling era as we integrate new genetic technologies into mainstream medicine.





Waisbren, S. E., Back, D. K., Liu, C., Kalia, S. S., Ringer, S. A., Holm, I. A., and Green, R. C. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med . 12-4-2014.

Empowering Fertility: An educational blog for patients & healthcare professionals that empowers individuals to take charge of their fertility. Visit us at http://empoweringfertility.com.




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