Published date: 14th January 2023

Written by: Saw Steven

The Future of Medical Genetics and the Importance of Digital Health

When one talks about genetic medicine; this sounds like it is something out of science fiction. But as today, we can do a fraction of these bizarre things. Now the idea of medical genetics is that we apply the genetic principles to medical practice, which includes studies of inheritance, mapping disease genes, diagnosis and treatment, and genetic counselling. But how is this tied to digital health, and could this be the future of medicine?

How does this work?

This is done by genetic engineering through the usage of a process of recombinant DNA technology called CRISPR by altering the genetic makeup of an organism. An example of this is the production of insulin to treat diabetes.

Figure 1 Description of recombinant DNA technology K. A. Wetterstrand, Recombinant DNA Technology, Genome.gov, Jan. 04, 2023. https://www.genome.gov/genetics-glossary/Recombinant-DNA-Technology#:~:text=Recombinant%20DNA%20technology%20is%20an Figure 1 Description of recombinant DNA technology, Source: Wetterstrand, K. A. (2023, January 4). Recombinant DNA Technology. Genome.gov; NIH.

With a similar concept, gene therapies are performed to treat genetic disorders using genome editing. It is a newer approach that allows precise correction or other targeted changes to DNA in cells to restore a cell’s function. This process allows direct modification of the cells in the body, or the cells will be collected and treated outside of the body and then returned to the body. An example of this is the treatment of cancer where the immune cells in the body are retrieved to modify the cancer cells, then they are reintroduced into the same body.

Slight history of genetic engineering and the potential future

Here is a quick summary of the history of GT: Figure 2 History of gene therapy , Source:TAMURA, R., & TODA, M. (2020). Historic Overview of Genetic Engineering Technologies for Human Gene Therapy. Neurologia Medico-Chirurgica, 60(10), 483–491.

Figure 3 History of gene therapy , Source:TAMURA, R., & TODA, M. (2020). Historic Overview of Genetic Engineering Technologies for Human Gene Therapy. Neurologia Medico-Chirurgica, 60(10), 483–491.

Why does history matter? As we have seen, genetic-related treatments are carefully monitored and legalised. Because there are potential dangers within the works of genetic manipulation. Because there are potential dangers within the works of genetic manipulation, such as the creation of new diseases or an organism of completely different species.

In 2019, a scientist in China created genetically altered twins, by altering the genes of the embryos. Vera Lucia Raposo, a law expert on science, claims that,

“In spite of the alleged reason for the genetic intervention related with the prevention of HIV, the scientific community also knows that the CCR5 gene is related with major brain functions. He Jiankui might have done some kind of human enhancement by created two especially intelligent human beings, with better memory and higher IQ.”

Which begs many questions, such as: is it ethical at all, what will be the consequences of the twins if an error that leads to disability is made, and what if he just created a lineage of superhumans unintentionally? Because the genetic alteration he has done is not quite what we are practising today, somatic gene editing, but instead germline gene editing. This means it has an impact not only on the person whom he had edited, but possibly they may pass on the edited genes to their descendants.

Figure 4 Comparison between somatic and germline gene editing Graphic by Judy Blomquist/Harvard Staff, Source: Bergman, M. T. (2019, January 9). Harvard researchers share views on future, ethics of gene editing. Harvard Gazette

How is this significant and how will this affect the future of medical genetics?

First, there is no real answer to this question yet. It will all depend on the outcome of He Jiankui’s “experimental twins” and the perception of the scientific community. That is to say that if the outcome is good for them, the scientific community will start changing their views on germline gene editing despite the risks. Pretty much like IVF, which people found unacceptable at first, are now accepting IVF because of its success and the increasing rate of infertility in modern society.

Moreover, if the circumstances have led to favour the practice of germline gene editing, I believe that this could save a lot of money and resources for the government and parents. Because of the potential to prevent a child from being born with genetic diseases.

But in this video on YouTube about “Genetic Engineering Will Change Everything Forever – CRISPR” by Kurzgesagt - In a Nutshell covers a variety of possibilities that genetic engineering could result in the future:

But how does Information Technology come into play?

As of now, there are a lot of genome databases that are available. And it will only continue to grow over time. This means that more IT specialists will increase over the years. Additionally, because precision is required within this field of work due to the nature of genetics, high computational analytics will be required. And so, data scientists, especially with a background in biology would have increase in demand. Hence, the pursuit in this field of careers would be easier and have better recognition in the future.

With data science, analysis of genetic data is so much faster, but with the addition of the advancement of AIs, the patterns of genetic mutation and their phenotypes could be predicted with higher accuracy with ease.

Figure 5 Digital care tools in genomic medicine a. The genetics service pathway will be delivered digitally, and its applications are under development. b. Horizon scans that are in existing digital care tools are used for each phase of the genetic service pathway. Source: Bombard, Y., & Hayeems, R. Z. (2020). How digital tools can advance quality and equity in genomic medicine. Nature Reviews Genetics, 21(9), 505–506.

The Obvious Challenges and How they Could be Overwhelmed

Apart from that, we have seen many countries try to push their health care into a more digital platform because of the impact that the COVID-19 pandemic had caused. Although digitalisation in healthcare is not quite agreed upon because of the lack of physical contact, the accessibility of healthcare to wider populations outweighs the lack of comfort that physical contact could provide. This has proven to be true during the COVID-19 pandemic and has pushed the advancement of digital health. As such, it could be also the same in genetic medicine, when push comes to shove.

The bigger challenges are, however, not the challenges that are against the breakout of the norm from the traditional medium. But within digitalisation itself. As such, data security would be the main challenge in this field, especially the medical records, which hold sensitive information about the patients that could potentially have their privacy breached. To prevent this, we must ensure that the data of the patients are well-encrypted and secured. This in turn leads to the need to hire more cybersecurity specialists, and it could be costly for the paying party.

This also means that the utilisation of telemedicine will be required. For this to be successful, the government must also take part in the process to ensure that the internet connection is at optimal bandwidths for the process to be successful. Without it, the whole purpose of fast healthcare delivery could be defeated. This issue had been stated by a researcher of digital medicine in Germany, Johanna Tecklenburg, who had discussed the problems and the solutions to integrate digitalisation into the German healthcare system.

Conclusion

If germline editing does get approved, ethical issues will surely arise; business institutions will try to take advantage of the new advancement by selling “designer babies” and could create genetic poverty gap. This could also lead to governments creating an army of “perfect humans”. Nevertheless, only time could tell what would happen and it will strongly depend on the people of practice. Even so, all this would still be in the experimentation phases after decades of this blog being posted.

Finally, the strong effort and support of the government, and the cooperation of all related professionals will be required if the operation is to succeed for all the obvious reasons.

The future technology of medicine is quite powerful, and it could be used in many ways. Hence, it would be greatly considered through debates and approvals before the actualisation of it. And in my opinion, I believe that we need to put a leap of faith in humanity and hope that this technology will be used for benevolence rather than for self-gain.

Sources and References