One of my favourite topics in Medical Science: The Newborn Genome Project

Alexandre

Faculty: Health, Medicine and Social Care
School: School of Allied Health and Social Care
Course: BSc (Hons) Medical Science
Category: Sciences nutritional and pharmaceutical

14 February 2023

What if we could diagnose babies with rare genetic conditions as soon as they are born, and we could design a care plan straightway? Imagine the number of babies’ lives we could save! That’s possible with the new project from the NHS and Genomic England, called Newborn Genome Project.

Biotechnology

CRISPR-Cas9 (Clustered Regularity Interspaced Palindromic Repeat-associated protein 9), gene editing, or genetic screening have been making headlines and been a controversial, but innovative, topic, nonetheless. But the Newborn Genome takes a whole unique approach to genetic screening.

A little introduction about some of that terminology: DNA sequencing involves the precise determination of the order in DNA, as a refresher, we have A, C, G, and T base pairs that make up all segments of DNA, all the DNA combined is called the genome, basically the person’s entire genetic makeup.

Genetic diseases

A genetic disorder is caused by mutations or changes in a person’s DNA sequence, this can be pinpointed to one “faulty” gene, chromosome, or complex reason. You probably have heard of Sickle Cell Disease or Down Syndrome, basically, there is a mutation in the person’s gene that codes and translates to the condition and this can be detected through genome screening and DNA sequencing, given that we will end up with a full description of the person’s genome and be able to see where that mutation is located. 

Some diseases like breast or colorectal cancer can also be detected through genetic testing, or at least can flag if the individual is genetically predisposed to develop that specific cancer.

Whole Genome Project

Whole Genome Project was a project led by an international group of scientists looking to comprehensively study all the DNA. The outcome was pivotal for the study of human biology and genetics and improved the practice of medicine.

This allows the medical teams to closely analyse and identify a patient’s genes, looking for mutations, health indicators and markers. This allowed us to detect diseases, disabilities, or developmental issues just from their genetic material, which I find so interesting, from that information we can see and analyse so much.

Newborn Genome Project

The co-designed project run by Genomics England and NHS, the Newborn Genome Programme is a research study that aims to explore the benefits, challenges, and practicalities of sequencing and analysing the genome of Newborns, instead of adults done previously

Considering the increased understanding of the links between health and genome that have been developed with Whole Genome Sequencing and the NHS, the leading team wants to explore and extend this approach to Newborns.

They plan to sequence the genome of over 100000 Newborns. Only after birth (post-natal) screening will be conducted and only for actionable and childhood-onset genetic conditions, so to spot diseases that we have therapies and treatments for and that we can design a care plan for.

The Newborn Genome Programme ensures timely diagnosis, and access to treatment pathways and hopefully enables a more positive health outcome and quality of life for the babies and their families.

With the patient’s and family's consent, the babies’ genome will be de-identified and their health data will be added to Genomic England’s Research Environment, providing material for researchers to improve the understanding of diseases, develop new diagnostics and treatments and understand current therapies and how they can be improved or repurposed.

Exploring the potential benefits of a lifetime genomic record allows the patients to have their genomes reanalysed in the future as needed, potentially having a positive impact on them and on their future clinical care.

The Newborn Genome Project can help to transform the diagnostic odyssey, this could reduce the number of tests and the number of years it takes to diagnose certain conditions. This could potentially lead to personalized and preventative healthcare. Starting to address and treat the condition earlier can result in better outcomes and a healthier baby, early diagnosis can feel life-changing, and this possible tailored intervention can both limit and prevent the progression of the disease.

Ethics

Members of the team leading this project have come forwards defending that their approach is going to be “human-centred”, they are doing and will continue to do efforts to check in with the public, with families and specialists, ensuring everything is equitable, fair, ethical, and accessible.

Conclusion

We can significantly improve the health of these children and families with an early diagnosis and treatment plan. On their website, they tell the story of this little baby called Jessica who has a genetic condition affecting her movement, and general development that causes epilepsy. The parents state that it took years to find the right diagnosis for their little girl and that taking part in the Newborn Genome Project enabled them to find a diagnosis and allowed doctors to help Jessica to live a better and healthier life. This accelerated discovery and alongside approval of treatments for rare genetic conditions sounds thrilling and exciting, and knowing we are witnessing it in our lifetime is so unique.

This is a colossal step in genetics and a great use of biotechnology and preventive medicine. However, we cannot ignore the ethical concerns that this comes with. The team has stated very clearly, they will keep all data confidential, private, and non-biased, to maintain an ethical methodology, making sure this is available but for the ones that need it.

Disclaimer

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