Corporate Banner
Satellite Banner
Molecular & Clinical Diagnostics
Scientific Community
 
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 2,500+ scientific posters on ePosters
  • More than 3,800+ 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

Pathways that can Repair BRCA1 Cancer Gene Mutation Clarified in Mice
Scientists compensated for mutations in the Brca1 gene that can lead to cancer by deleting a second gene, lessening the probability of cancer.
Wednesday, April 07, 2010
NIDA Researchers Discover a new Mechanism Underlying Cocaine Addiction
The study shows how cocaine affects an epigenetic process called histone methylation.
Friday, January 08, 2010
Recovery Funds Advance Alzheimer's Disease Research
American Recovery and Reinvestment Funds are being used to promote the national research efforts to diagnose and treat Alzheimer's disease.
Monday, November 30, 2009
Scientific News
‘Mutation-Tracking’ Blood Test for Breast Cancer
Scientists have developed a blood test for breast cancer able to identify which patients will suffer a relapse after treatment, months before tumours are visible on hospital scans.
Common ‘Heart Attack’ Blood Test May Predict Future Hypertension
Small rises in troponin levels may have value as markers for subclinical heart damage and high blood pressure.
Poor Survival Rates in Leukemia Linked to Persistent Genetic Mutations
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
'Fountain of Youth' Protein Points to Possible Human Health Benefit
Patients with higher blood levels of growth factor have lower risk of cardiovascular problems.
Signature of Microbiomes Linked to Schizophrenia
Studying microbiomes in throat may help identify causes and treatments of brain disorder.
Imaging Software Could Speed Breast Cancer Diagnosis
Technology could improve access to diagnostic services in developing countries.
The Changing Tides of the In Vitro Diagnostics Market
With the increasing focus in personalized medicine, diagnostics plays a crucial role in patient monitoring.
Data Mining DNA For Polycystic Ovary Syndrome Genes
A new Northwestern Medicine genome-wide association study of PCOS – the first of its kind to focus on women of European ancestry – has provided important new insights into the underlying biology of the disorder.
Algorithm Interprets Breathing Difficulties to Aid in Medical Care
Researchers from North Carolina State University have developed an efficient algorithm that can interpret the wheezing of patients with breathing difficulties to give medical providers information about what’s happening in the lungs.
Researchers Develop qPCR Prognosis Test for NSCLC Patients
A nine-gene molecular prognostic index (MPI) for patients with early-stage non-small cell lung cancer (NSCLC) was able to provide accurate survival stratification and could potentially inform the use of adjuvant therapy in patients struggling with the disease.
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
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!