Archived Guthrie cards find a new purpose

August 22, 2012
A newborn's blood is spotted onto a Guthrie card. Commonly used to collect blood spots from the pricked heel of newborns to screen for diseases such as phenylketonuria, cystic fibrosis, and sickle cells disorders, Guthrie cards might offer a snapshot of the epigenome before disease develops. Credit: The New York State Department of Health Newborn Screening Program

Over the last 50 years, the spotting of newborn's blood onto filter paper for disease screening, called Guthrie cards, has become so routine that since 2000, more than 90% of newborns in the United States have had Guthrie cards created. In a study published online in Genome Research, researchers have shown that epigenetic information stored on archived Guthrie cards provides a retrospective view of the epigenome at birth, a powerful new application for the card that could help understand disease and predict future health.

DNA methylation, an epigenetic chemical modification of DNA, is known to affect and play a role in normal development, aging, and also in diseases such as heart disease, diabetes, and cancer. "But are these epigenetic marks involved in causing the disease, or a result of the disease itself?" asked Dr. Vardhman Rakyan of Queen Mary, University of London and co-senior author of the study. Rakyan explained that this is impossible to know when samples are obtained after onset of the disease. Guthrie cards, commonly used to collect blood spots from the pricked heel of newborns to screen for diseases such as phenylketonuria, , and sickle cells disorders, might offer a snapshot of the epigenome before disease develops. Many Guthrie cards are stored indefinitely by around the world, posing a potential wealth of information about the epigenome at birth.

Rakyan and an international group of colleagues purified genomic DNA and analyzed DNA methylomes from Guthrie cards and verified that this archived DNA yields high-quality methylation data when compared to fresh samples. The researchers then compared the profiles of newborns to the same healthy individuals at the age of three, looking for epigenetic variations detected in the Guthrie card sample that are stable into the early years of life.

"We found similar epigenetic differences between different people both at birth and when they were three years old," said Rakyan, who added that these differences, already present at birth, are unlikely due solely to inherent genetic differences between the individuals, but also due to environment or random events in utero. Furthermore, Guthrie card samples could be analyzed for both genetic and epigenetic differences together to view a more complete picture of the genome at birth.

Guthrie card methylomics is a potentially powerful new application for archived , which could provide a wealth of information about epigenetics and disease, and could give clues about health later in life. Dr. David Leslie, co-senior author of the study, added that because national health authorities routinely make Guthrie cards available, and with the proper consent obtained from parents and children, "we are talking about an invaluable, and non-renewable, resource for millions of individuals."

Explore further: Differences between human twins at birth highlight importance of intrauterine environment

More information: Beyan H, Down TA, Ramagopalan SV, Uvebrant K, Nilsson A, Holland ML, Gemma C, Giovannoni G, Boehm BO, Ebers GC, Lernmark Å, Cilio CM, Leslie RD, Rakyan VK. Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans. Genome Res doi: 10.1101/gr.134304.111

Related Stories

Differences between human twins at birth highlight importance of intrauterine environment

July 15, 2012
Your genes determine much about you, but environment can have a strong influence on your genes even before birth, with consequences that can last a lifetime. In a study published online in Genome Research, researchers have ...

Twin study reveals epigenetic alterations of psychiatric disorders

September 21, 2011
In the first study to systematically investigate genome-wide epigenetic differences in a large number of psychosis discordant twin-pairs, research at the Institute of Psychiatry (IoP) at King's College London provides further ...

Epigenetic changes in blood samples may point to schizophrenia

March 27, 2012
In a new study, researchers at the Swedish medical university Karolinska Institutet have identified epigenetic changes – known as DNA methylation – in the blood of patients with schizophrenia. The researchers were ...

Researchers complete the first epigenome in Europe

May 30, 2012
A study led by Manel Esteller, director of the Epigenetics and Cancer Biology Program at the Bellvitge Biomedical Research Institute (IDIBELL), professor of genetics at the University of Barcelona and ICREA researcher, has ...

Researchers characterize epigenetic fingerprint of 1,628 people

June 2, 2011
Until a decade, it was believed that differences between people were due solely to the existence of genetic changes, which are alterations in the sequence of our genes. The discoveries made during these last ten years show ...

Recommended for you

Forgotten strands of DNA initiate the development of immune cells

September 21, 2017
Intricate human physiological features such as the immune system require exquisite formation and timing to develop properly. Genetic elements must be activated at just the right moment, across vast distances of genomic space.

Genome editing reveals role of gene important for human embryo development

September 20, 2017
Researchers have used genome editing technology to reveal the role of a key gene in human embryos in the first few days of development. This is the first time that genome editing has been used to study gene function in human ...

A piece of the puzzle: Eight autism-related mutations in one gene

September 19, 2017
Scientists have identified a hotspot for autism-related mutations in a single gene.

Scientists identify key regulator of male fertility

September 19, 2017
When it comes to male reproductive fertility, timing is everything. Now scientists are finding new details on how disruption of this timing may contribute to male infertility or congenital illness.

New assay leads to step toward gene therapy for deaf patients

September 18, 2017
Scientists at Oregon State University have taken an important step toward gene therapy for deaf patients by developing a way to better study a large protein essential for hearing and finding a truncated version of it.

Genomic recycling: Ancestral genes take on new roles

September 18, 2017
One often hears about the multitude of genes we have in common with chimps, birds or other living creatures, but such comparisons are sometimes misleading. The shared percentage usually refers only to genes that encode instructions ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.