Advances in genome sequencing for babies are at the forefront in both the United States and the United Kingdom. Major studies are currently in the works in both countries.
This week, the UK announced a study to sequence the genomes of 100,000 babies starting in 2023. This decision succeeds a New York Project featuring Columbia University’s geneticist Wendy Chung launched in September to sequence DNA from 100,000 newborns for numerous treatable diseases over four years.
The UK program is led by Genomics England, who in 2014 sequenced 100,000 genomes from an estimated 85,000 National Health Service (NHS) patients affected by rare diseases or cancer. Genomics England is owned by the U.K. Department of Health and Social Care.
UK Minister of Health, Will Quince, had high praise in a governmental press release discussing the announcement of the breakthrough research.
“The potential for genomics to revolutionize the way we deliver healthcare is great – if we can detect treatable illnesses earlier and ensure patients access potentially life-saving treatment faster, we could improve people’s lives across the county, including thousands of babies through this new pilot,” Quince said. “The NHS is a world leader in genomics and by investing in this cutting-edge research we’re cementing our status as a life sciences superpower.
Where will the funding go?
Genomics England will receive funding of £175 million ($216.45 million).
£105 million ($129.87 million) will go to the groundbreaking study which is in partnership with the NHS to explore the effectiveness of using whole genome sequencing. The research is hopeful of using whole genome sequencing to treat rare genetic diseases in newborn babies such as rare genetic thyroid hormone conditions. These conditions are currently not detectable by the routine NHS heel prick test, leading to possible developmental and learning difficulties along with increased paths to long-term health complications.
£26 million ($31.16 million) will explore new high-tech genomic sequencing technology, which will improve the accuracy and speed of diagnosis for cancer patients and use artificial intelligence to analyze a person’s DNA
£22 million ($27.21 million) is going toward a study analyzing genomes of up to 25,000 research participants of non-European ancestry. These individuals are currently marginalized when conducting genomic research, the UK hopes this study will improve understanding of DNA and its impact on health outcomes.
However, as mentioned, the UK is not the only nation interested in genome sequencing for babies. The GUARDIAN study based in New York City is research screening newborns for over 250 genetic conditions not currently screened by today’s baby screening standards. The goal is to find babies with these conditions to give them a healthier life.
For a detailed list of the conditions screened for, CLICK HERE.
This study is different from current newborn studies done in the US that test for around 50 conditions. Anyone in the Big Apple who plans to have a baby at any of the areas NewYork-Presbyterian Hospitals is eligible after completing an application process.
What is whole-genome sequencing?
All organisms (bacteria, vegetables, mammals) have a unique genetic code, or genome, composed of nucleotide bases (A, T, C, and G). Knowing the sequence of the bases in an organism gives the ability to identify a unique DNA fingerprint or pattern. Sequencing comes from determining the order of bases. Whole genome sequencing is a laboratory procedure that determines the order of bases in the genome of an organism in one process.
Four steps to genome sequencing according to the Centers for Disease Control and Prevention:
1. DNA shearing
Scientists begin by using molecular scissors to cut the DNA, which is composed of millions of bases (A’s, C’s, T’s, and G’s), into pieces that are small enough for the sequencing machine to read.
2. DNA barcoding
Scientists add small pieces of DNA tags, or bar codes, to identify which piece of sheared DNA belongs to which bacteria. This is similar to how a bar code identifies a product at a grocery store.
3. DNA sequencing
The bar-coded DNA from multiple bacteria is combined and put in a DNA sequencer. The sequencer identifies the A’s, C’s, T’s, and G’s, or bases, that make up each bacterial sequence. The sequencer uses the bar code to keep track of which bases belong to which bacteria.
4. Data analysis
Scientists use computer analysis tools to compare sequences from multiple bacteria and identify differences. The number of differences can tell the scientists how closely related the bacteria are, and how likely it is that they are part of the same outbreak
Are there negatives to whole-genome sequencing?
This BabySeq Project involved parents partaking in a study weighing the pros and cons of current state newborn screening (NBS) and genome screening (GS). Some GS testing led to cases of increased stress amongst parents by fear of potential health problems that might never happen.
Here were their results:
"The majority of parents (71%) and clinicians (51%) agreed that there are health benefits of GS, although parents and clinicians agreed more that there are risks associated with GS (35%, 70%) than with NBS (19%, 39%; all P < .05), Parents perceived more benefit and less risk of GS than did clinicians. Clinicians endorsed concerns about privacy and discrimination related to genomic information more strongly than did parents, and parents anticipated benefits of GS that clinicians did not."