Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

NIH Program Explores the Use of Genomic Sequencing in Newborn Healthcare

Published: Wednesday, September 04, 2013
Last Updated: Wednesday, September 04, 2013
Bookmark and Share
Can sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides?

Pilot projects to examine this important question are being funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health. Awards of $5 million to four grantees have been made in fiscal year 2013 under the Genomic Sequencing and Newborn Screening Disorders research program. The program will be funded at $25 million over five years, as funds are made available.

“Genomic sequencing has potential to diagnose a vast array of disorders and conditions at the very start of life,” said Alan E. Guttmacher, M.D., director of NICHD. “But the ability to decipher an individual’s genetic code rapidly also brings with it a host of clinical and ethical issues, which is why it is important that this program explores the trio of technical, clinical, and ethical aspects of genomics research in the newborn period.”

The awards will fund studies on the potential for genome and exome sequencing to expand and improve newborn health care. Genomic sequencing examines the complete DNA blueprint of the cells, and exome sequencing is a strategy to selectively sequence exons, the short stretches of DNA within our genomes that code for proteins.

“We are at a point now where powerful new genome sequencing technologies are making it faster and more affordable than ever to access genomic information about patients,” said Eric D. Green, M.D., Ph.D., director of NHGRI. “This initiative will help us better understand how we can appropriately use this information to improve health and prevent disease in infants and children.”

Programs currently screen almost all of the more than 4 million infants born in the United States each year. Until now, the testing of DNA has not been a first-line newborn screening method, but has been used to confirm the screening results of some disorders, such as cystic fibrosis.

Each of the new awards will consist of three parts: Genomic sequencing and analysis; research related to patient care; and the ethical, legal and social implications of using genomic information in the newborn period. Teams of researchers will work to further the understanding of disorders that appear in newborns and to improve treatments for these diseases using genomic information. The four grantees are:

Brigham and Women’s Hospital, Boston

Principal Investigators: Robert Green, M.D., and Alan Beggs, Ph.D.

This research project will accelerate the use of genomics in pediatric medicine by creating and safely testing new methods for using information obtained from genomic sequencing in the care of newborns. It will test a new approach to newborn screening, in which genomic data is available as a resource for parents and doctors throughout infancy and childhood to inform health care. A genetic counselor will provide the genomic sequencing information and newborn screening results to the families. Parents will then be asked about the impact of receiving genomic sequencing results and if the information was useful to them. Researchers will try to determine if the parents respond to receiving the genomic sequencing results differently if their newborns are sick and if they respond differently to receiving genomic sequencing results as compared to current newborn screening results. Investigators will also develop a process for reporting results of genomic sequencing to the newborns’ doctors and investigate how they act on these results.

Children’s Mercy Hospital – Kansas City, Mo.

Principal Investigator: Stephen Kingsmore, M.D.

Many newborns require care in a neonatal intensive care unit (NICU), and this group of newborns has a high rate of disability and death. Given the severity of illness, these newborns may have the most to gain from fast genetic diagnosis through the use of genomic sequencing. The researchers will examine the benefits and risks of using rapid genomic sequencing technology in this NICU population. They also aim to reduce the turnaround time for conducting and receiving genomic sequencing results to 50 hours, which is comparable to other newborn screening tests. The researchers will test if their methods increase the number of diagnoses or decrease the time it takes to reach a diagnosis in NICU newborns. They will also study if genomic sequencing changes the clinical care of newborns in the NICU. Additionally, the investigators are interested in doctor and parent perspectives and will try to determine if parents’ perception of the benefits and risks associated with the results of sequencing change over time.

University of California, San Francisco

Principal Investigator: Robert Nussbaum, M.D.

This pilot project will explore the potential of exome sequencing as a method of newborn screening for disorders currently screened for and others that are not currently screened for, but where newborns may benefit from screening. The researchers will examine the value of additional information that exome sequencing provides to existing newborn screening that may lead to improved care and treatment. Additionally, the researchers will explore parents’ interest in receiving information beyond that typically available from newborn screening tests. The research team also intends to develop a participant protection framework for conducting genomic sequencing during infancy and will explore legal issues related to using genome analysis in newborn screening programs. Together, these studies have the potential to provide public health benefit for newborns and research-based information for policy makers.

University of North Carolina at Chapel Hill

Principal Investigators: Cynthia Powell, M.D., M.S., and Jonathan Berg, M.D., Ph.D.

In this pilot project, researchers will identify, confront and overcome the challenges that must be met in order to implement genomic sequencing technology to a diverse newborn population. The researchers will sequence the exomes of healthy infants and infants with known conditions such as phenylketonuria, cystic fibrosis or other disorders involving metabolism. Their goal is to help identify the best ways to return results to doctors and parents. The investigators will the explore the ethical, legal and social issues involved in helping doctors and parents make informed decisions, and develop best practices for returning results to parents after testing. The researchers will also develop a tool to help parents understand what the results mean and examine extra challenges that doctors may face as this new technology is used. This study will place a special emphasis on including multicultural families.

“These pilot studies build upon the nation’s very successful public health newborn screening programs that reach almost all infants born in the United States,” said Dr. Guttmacher. “We will carefully evaluate the use of genomic data in newborns, including how best to deliver genomic information to parents and healthcare providers, to see how we can improve our care of children, who are, of course, our future.”


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,400+ scientific posters on ePosters
  • More Than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Test Reliably Detects Inherited Immune Deficiency in Newborns
NIH-supported study suggests that early diagnosis of severe combined immunodeficiency leads to high survival rates.
Wednesday, August 20, 2014
Drug Combination May be Highly Effective in Recurrent Ovarian Cancer
The drugs were tested in a phase I combination study followed by a randomized phase 2 trial.
Monday, June 02, 2014
TCGA Bladder Cancer Study Reveals Potential Drug Targets, Similarities to Several Cancers
Investigators have identified new potential therapeutic targets for a major form of bladder cancer, including important genes and pathways that are disrupted in the disease.
Thursday, January 30, 2014
Gene Variants Found Associated With Human Immune System, Autoimmune Disease
Numerous studies have reported that certain diseases are inherited. But genetics also plays a role in immune response, affecting our ability to stave off disease.
Friday, September 27, 2013
Investigational Malaria Vaccine Found Safe and Protective
An investigational malaria vaccine has been found to be safe, to generate an immune system response, and to offer protection against malaria infection in healthy adults.
Friday, August 09, 2013
Clues to Congenital Heart Disease
Non-inherited mutations in hundreds of genes together account for about 1 in 10 cases of severe congenital heart defects.
Wednesday, May 22, 2013
New NIH funding for two Autism Centers of Excellence
A total of 11 centers now funded for up to five years.
Wednesday, April 03, 2013
Modelling Dynamics in Protein Crystal Structures by Ensemble Refinement
Detailed information about the dynamic behaviour of proteins is essential for a proper understanding of a variety of processes, including catalysis, ligand binding and protein–protein interactions.
Monday, January 28, 2013
Gene Therapy for Salivary Gland Shows Promise
An experimental trial showed that gene therapy can be performed safely in the human salivary gland.
Tuesday, December 04, 2012
Therapy Repairs Ravaged Immune System
Gene therapy can safely restore immune function in children with severe combined immunodeficiency and allow some to stop taking painful weekly injections.
Tuesday, October 02, 2012
Gene Therapy Restores Sense of Smell in Mice
Mice that were unable to smell from birth gained the ability to smell when researchers used gene therapy to regrow structures called cilia on cells that detect odor.
Tuesday, October 02, 2012
Researchers Identify Protein Essential for Embryo Implantation
NIH researchers discovery shows how the hormone progesterone suppresses the growth of the uterus's lining so that a fertilized egg can implant in the uterus.
Tuesday, February 22, 2011
The National Database for Autism Research Announces its First Data Release
Autism Spectrum Disorder researchers now can use data from over 10,000 participants enrolled in ASD studies.
Wednesday, December 01, 2010
Researchers Discover Key Mutation in Acute Myeloid Leukemia
Researchers have discovered mutations in a particular gene that affects the treatment prognosis for some patients with acute myeloid leukemia (AML), an aggressive blood cancer that kills 9,000 Americans annually.
Monday, November 15, 2010
NIH Launches Genotype-Tissue Expression Project
Project to chart influence of DNA changes on gene function in human tissues and organs.
Wednesday, October 13, 2010
Scientific News
RNAi Screening Trends
Understand current trends and learn which application areas are expected to gain in popularity over the next few years.
Researchers Find U.S. Breast Milk is Glyphosate Free
Washington State University scientists have found that glyphosate, the main ingredient in the herbicide Roundup, does not accumulate in mother’s breast milk.
Peering into the Vapors
Research suggests that e-cigarettes are much less harmful than previous studies have indicated.
New Technique for Mining Health-conferring Soy Compounds
A new procedure devised by U.S. Department of Agriculture (USDA) scientists to extract lunasin from soybean seeds could expedite further studies of this peptide for its cancer-fighting potential and other health benefits.
Long-sought Discovery Fills in Missing Details of Cell 'Switchboard'
A biomedical breakthrough reveals never-before-seen details of the human body’s cellular switchboard that regulates sensory and hormonal responses.
Tracking Breast Cancer Before it Grows
A team of scientists led by University of Saskatchewan researcher Saroj Kumar is using cutting-edge Canadian Light Source techniques to screen and treat breast cancer at its earliest changes.
Zebrafish Reveal Drugs that may Improve Bone Marrow Transplant
Compounds boost stem cell engraftment; could allow more matches for patients with cancer and blood diseases.
DNA Damage Seen in Patients Undergoing CT Scanning
Along with the burgeoning use of advanced medical imaging tests over the past decade have come rising public health concerns about possible links between low-dose radiation and cancer.
The Light of Fireflies for Medical Diagnostics
EPFL scientists have exploited the light of fireflies in a new method that detects biological molecules without the need for complex devices and high costs.
Rice Disease-Resistance Discovery Closes the Loop for Scientific Integrity
Researchers reveal how disease resistant rice detects and responds to bacterial infections.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,400+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!