At the heart of any new development is ethics, consent and security of information. Parents and children should feel satisfied that the data collected is with their consent, ethical and secure.
by Victor Cherubim
The world of medicine and diagnostics has over generations gone through tremendous change. The 20th century itself, has witnessed many revolutionary advances in health care. Research into the causes of infectious diseases, the development of vaccines and pharmaceuticals have conquered devastating illness such as polio, smallpox, Ebola and now COVID-19. The first successful organ transplant took place in 1954, now prolonging the lives of heart and other transplants. Over the past decade and since December 2021 alone, better understanding of the mechanisms that cause lung collapse, has improved the ability not only to prevent, diagnose and treat disease, but has been a milestone in medical progress. Innovation is underlying that progress, Accelerating change with many new technologies and medical interventions provide new options for specialist care and treatment, and perhaps future investment?
From Project to Platform Genomics England
The latest development is Genome Sequence. Genome England is a UK Government and NHS research body, planning to turn science into healthcare, through technology.
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| Can we see the need for Genome Sequence in these countries of population growth in the not too distant future? [Photo: National Human Genome Research Institute] |
Since July 2018, as part of the 65th anniversary celebrations of NHS, the UK Department of Health and Social Care was tasked with the project to sequence 100,000 whole genomics from NHS patients with rare diseases, especially with common cancers. After a successful completion of a pilot project, this body is now planning to screen up to 200,000 new born in 2023 to gather data on rare diseases, many of them are genetic.
It is an ethics approved research pilot project for parents to find out what their new born child’s life is going to be like? It is a person centred screening, research and analysis of new born to inform parents with their consent to make informed choices for rare disease, heath care until the child is grown up to be able to make the child’s own choices for necessary treatment.
The impact of the project is to make genomics part of routine check, perhaps similar to advance breast cancer screen, or the PSA Test, but in much greater detail. This is in order to collect data resource to focus for “gene alterations” in a specific list of genes that may increase the risk of rare or incurable disease.
The future of diagnostics and how the data is used?
At the heart of any new development is ethics, consent and security of information. Parents and children should feel satisfied that the data collected is with their consent, ethical and secure.
We are informed that the parents and the children will be able to build in a regular review of their condition, look for any abnormalities that may arise, making sure that the clinical pathways and guidance are safe and robust.
It is anticipated that the future of a condition may not appear until a child is 8 or 10 years old, when the child is mature and be able to make own choices and/orre-consent.
Who has access to the data?
As it stands, maintaining data security and protecting the individual privacy is top priority. The data is solely in the hands of the Secretary of State for Health and the NHS. The DNA profile data will never be used for Insurance or Marketing purposes, nor for speculative searches.
Genomics England data will not be available without permission or presentation of a Court Order.
However, the data will be used for finding new treatments and possibly cure for a wide range of health conditions, improving analysis, for developing new drug platforms and diagnostic tests, suggest clinical trials and/or relevant research.
How can the World benefit with Genome Sequence?
India is projected to surpass China as the most populated country on14 April 2023. According to UN Department of Economic & Social Affairs, India’s population is projected to be 1,425,775,850. This will be the first time that a country other than China has held the top population statistics, since 1750 when China last overtook India (vide 27th edition UN World Population Prospects)
For India, current estimates suggest the population will continue to grow, although at a slightly slower rate.
China’s population growth has been in decline since 1980 when the Chinese Government implemented its “One Child Policy,” only rescinded in 2016. China is not the only country to experience declining fertility rates.
However, some other countries in African Continent, with large populations are expected to increase in numbers in the next 30 years. They include Democratic Republic of Congo,
Egypt, Ethiopia, Nigeria and Tanzania.
Rapid expansion in population and Genome Sequence?
This rapid expansion of population growth opens opportunities not only for Infrastructure development, but more especially for Health Care investment.
We can see the need for Genome Sequence in these countries of population growth in the not too distant future?
Will we see UK moving in by investing more in these population dense countries with its new technology? What will be my child like when it grows up will dominate their thinking? The United Kingdom has never missed a chance of moving in investment in medical research?
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For those wishing to view the London Genome Conference
“A Conference on Genome Sequence is planned in London on the 13 December 2022 at 8.30 am GMT. Kindly see details below which will be available by webinar on the Internet.
Key areas for discussion include:
- opportunities – latest thinking on the use and potential of genomics to improve public health and develop personalised medicine – next steps for data use – genomics in screening
- R&D – priorities for supporting innovation and collaborating on evaluation at UK level – systems to support innovative therapies – integration of health and genomic data in research
- pathogen genomic sequencing – taking forward lessons from systems used during the pandemic – the next steps for embedding capacity and scalability within the system
- implementation – the way forward for genomic transformation in the NHS
- pharmacogenomics – its role in drug discovery and prescribing – what has been learned from early developments – patient engagement – options for scaling up use in clinical practice
- collaboration and investment across the UK – key considerations for sharing data and key findings, and for surveillance
- developing genomic healthcare services – improving pathways – priorities for workforce education – reducing regional variation in implementation – opportunities for patient engagement.
During the conference delegates will hear from Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics; NHS England and NHS Improvement; Dr Rob Orford, Chief Scientific Adviser for Health in Wales, Welsh Government; and Dr Richard Scott, Chief Medical Officer, Genomics England; Consultant, Great Ormond Street Hospital for Children; and Honorary Senior Lecturer, Institute of Child Health, University College London.
The conference will be an opportunity for stakeholders to consider the issues alongside key policy officials who are due to attend from the Department of Health, NI; Office for Life Sciences; The Scottish Government; and the Welsh Government
© Copyright HEE Genomics Education Programme
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