Genome Sequencing and Newborn Screening Disorders Research Programme will transform Healthcare


There are over 6,000 known genetic disorders that account for a significant portion of human diseases such as Downs Syndrome, spina bifida, cystic fibrosis, diabetes, cancer, arthritis, heart disease and sickle cell anemia.

Of the four million babies born in the United States each year, about 3 to 4% will have a genetic disease or birth defect and approximately 1% of all babies will be born with a chromosomal abnormality, which can result in physical problems and mental retardation.  More than 20% of infant deaths are caused by birth deficiencies or genetic conditions such as congenital heart defects, and nervous system and chromosomal abnormalities.  Approximately 10% of adult and 30% of children admissions to hospitals are due to genetically related issues.

'Genomic Sequencing and Newborn Screening Disorders' research programme will test the usefulness and ethical, legal and social considerations for parents in gaining knowledge about their child's comprehensive, genetic makeup at birth and throughout their childhood.  While the programme will not replace the normal screening of 60 genetic diseases in newborns, it will support research for studying whether sequencing a newborn's DNA is better than conventional screening for detecting genetic disorders that affect drug metabolism, immune function and hearing, as well as metabolic disorders and cystic fibrosis.

"One can imagine a day when every newborn will have their genome sequenced at birth, and it would become a part of the electronic health record that could be used throughout the child's life and to think about better prevention but also to be more alert to early clinical manifestations of a disease," said Alan Guttmacher, Director of the U.S. National Institute of Child Health and Human Development. 

Studies released over the past year have found that genetic sequencing might find a genetic cause for illness in 15 to 60% of children with undiagnosed diseases.  However, geneticists and ethicists are in conflict over what information doctors should examine in a patient's genome, what range of genetic information will be disclosed to the parents, and who should own and control the genomic data.

"There's great danger in sequencing newborns who have no say in the matter and whose parents may really have no clue what a Pandora's Box they're opening for themselves, their child, their future and their relationship," said Twila Brase, President and co-founder of Citizen's Council for Health Freedom in St. Paul, Minnesota.  She stated that genome sequencing to screen for more conditions will almost certainly uncover more false positives than current screening, and these results can have a profound effect on families even if their child never becomes ill.  Ethical concerns and considerations are the major catalysts for the newly funded research programmes – and justifiably so.

Last March the American College of Medical Genetics and Genomics recommended that doctors search the genomes of all patients receiving clinical sequencing for mutations in 57 genes, link the health conditions and report the results to the patients, regardless of their initial reason for sequencing.  Robert Green, Geneticist at Brigham and Women's Hospital in Boston, Massachusetts, was on the panel that issued these recommendations and will be part of a team that plans to use programme funding to examine 480 genomes – 50% from healthy babies and 50% from sick babies in neonatal intensive care units.  Green states that the team is still undecided as to what "appropriate risk variants to return" in children from birth through early childhood.

Cynthia Powell at the University of North Carolina at Chapel Hill leads a research team that will report genetic defects to parents and while the information might not be relevant to the child's diagnosis, it could be "medically actionable" – such as a cancer condition that might emerge in childhood - and be preventable or treatable if caught early.  In direct contrast, Stephen Kingsmore of Children's

Mercy Hospital and Clinics in Kansas City, Missouri is sceptical of this kind of information stating that, "Having to report the risk of future cancer syndromes for critically ill neonates or at end of life is absurd."  Kingsmore estimated that screening these genes in the general U.S. population would yield 20 false positives for every true positive.

Kingsmore received a grant to sequence the genomes of 500 sick newborns and develop a sequencing test to diagnose the cause of their ailments within 24 hours.  His team will look for mutations in genes linked to the child's symptoms and if no results are found, the team will check the whole genome for disease-causing variants.

None of the research teams listed above is considering giving parents their children's raw genetic sequence data that would give them the opportunity to seek their own interpretations of the data or to have it reanalyzed, as their child grows older.

Genome Sequencing in UK

Rare Disease U.K. states that 3.5 million people in the United Kingdom will be affected by a rare disease at some point in their life, and at present, there are an estimated 7,000 rare diseases. 

"More than 5% of babies are born with a genetic disease," said Sarah-Jane Marsh, Chief Executive at Birmingham Children's Hospital. 

"At the moment, too many of the affected families are unable to access the best diagnostics and treatment available."

Last October the University of Cambridge, Genomics England Ltd. and Illumina, Inc. announced the start of a three-year project that will sequence 10,000 whole genomes of children and adults with rare genetic diseases citing it will increase the

improvement of care to patients bypassing the elongated and painful search in diagnosis, which not only prevents the delivery of optimal care but too often aggravates the condition.

"We are excited to be partnering in this ground-breaking project to discover the genes underlying rare genetic diseases which may lead to offering new tests and pave the way for new opportunities for treatment," said Professor Mark Caulfield, Chief Scientist for Genomics England.

"The collective knowledge that will be gained from this data will improve treatment for many patients in the National Health Service and around the world - and ultimately transform healthcare."

"While the use of Whole Genome Sequencing in newborns promises many advantages, it puts an important population screening program at risk by turning it into a clinical research program, with a concomitant shift in values and duties.  Ongoing stakeholder discussion and the development of evidence-based policy is essential in this area, for as the Presidential Commission for the Study of Bioethical Issues points out in their October 2012 report, Privacy and Progress in Whole Genome Sequencing, “whole genome sequencing in children raises a number of unique issues with regard to fully informed decision making."

The above excerpt was taken from "Whole Genome Sequencing: Will It Destroy Newborn Screening?by Clarissa Allen, Denise Avard, and Bartha M. Knoppers - Center of Genomics and Policy, McGill University and Genome Quebec Innovation Center.


For additional information, Diligencia Investigative Reporting recommends the following articles: – is a national network that joins 19 maternal and child health research institutes in Canada with the latest news and scheduled events.

This article was written by Veronika Bradley, Editor for Children's Health and Safety Association – January 25, 2013 and Republished by Diligencia Investigative Reporting – April 2019

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