Genomics Spells the End of ‘One Size Fits All’ Medicine
The same disease can cause different symptoms in different people. The same drug affects everyone differently. COVID-19 has reminded us once again that medicine is not “one size fits all”. Breakthroughs in genomics have made it possible to tailor prevention, diagnosis, and treatment to individual levels.
The Seven Revolutions in Healthcare That Will Impact Your Life – Part 1
Within five to ten years, healthcare as we know it may be changed radically. Disruptive technologies such as genomics, artificial intelligence, or 3D printing have already started to have an impact on both patients and healthcare providers. These trends will grow exponentially and will affect our lives in important ways. At Supertrends, we’ve taken a closer look at the healthcare trends that may come to fruition in the near future. We will be describing these in a series of stories detailing how our lives will be changed by these new technologies – for the better.
From the “US$1,000 genome” to the “US$100 genome”
“The $1,000 genome has long been considered the tipping point that would open the floodgates to this (personalized genomic medicine) revolution” – Kevin Davies, author, founding editor of Nature Genetics 
Genomics is the study of our genes, or DNA, and their interaction with our health. In 2003, The Human Genome Project completed the sequencing of the entire human genome. It took 15 years of international efforts and cost US$2.7 billion. The first direct-to-consumer whole human genome sequencing started in 2007 at the cost of UD$350,000. With the invention of Next-Generation Sequencing (NGS), prices fell to around US$4,000 by mid-2015, and below US$1,000 by 2017. In 2020, Chinese genome sequencing company BGI announced that it was able to sequence the full human genome at a cost of US$100.
DNA sequencing has never been so accessible. Fast and low-cost genome sequencing, combined with our expanding ability in data handling, is driving the shift to precision medicine, a medical approach based on a person’s unique genetic data and his lifestyle. This trend is reflected in disease prevention, diagnosis, prognosis, and treatment optimization.
Healthcare is moving from cure towards prevention
“The superior doctor prevents illness. The mediocre doctor attends to impending sickness. The inferior doctor treats actual illness.” – From a Traditional Chinese Medicine book
More than 2,000 years ago, one of the oldest Traditional Chinese Medicine textbooks already regarded prevention as the ultimate goal of medicine. Today, genomics enables us to take preventive measures long before a disease shows any symptoms. Certain genetic variations may be prone to causing particular health risks. Genomic information can help us to take the necessary steps in protecting our health. When symptoms do occur, genomics plays an increasingly important role in getting a definitive diagnosis and selecting the optimized treatment. Two of the areas where this is already happening are rare diseases and cancer.
A rare disease is a disease that affects fewer than one in 2,000 people. There are over 6,000 known rare diseases. In total, they affect one in 17 people. In the past, patients with a rare disease often spent years unsuccessfully seeking a diagnosis. Now, over 80 percent of rare diseases been found to have a known genetic origin. Genome sequencing has become the most useful tool for doctors to diagnose rare diseases.
All cancers are the result of gene mutations. Doctors used to diagnose cancer by location and cellular type. Genome sequencing of cancer tissues means we can know the exact mutation, providing insight into how an individual patient’s cancer may progress, and how it might respond to treatment. Some inherited gene mutations, such as BRCA1 and BRCA2, are connected to a higher risk of developing breast, ovarian, and prostate cancer. Known carriers of these mutations will be able to take preventive measures and monitor the risk more closely.
Pharmacogenomics and gene editing
Back to the issue of why a drug could be highly effective for some people, but toxic for others. The reason why different individuals have different responses to the same drug at the same dose is genetic variation. Some of us have genetic variations that influence the production of enzymes needed to metabolize certain medicines. In these cases, the particular drug may either not work or cause an adverse effect. By testing for these genetic variations, we can select a drug that will work as it should. Pharmacogenomics is a new field that studies how genes affect a person’s response to drugs. There are already more than 250 drugs labeled with pharmacogenomic information. With both pharmacogenomic and gene sequencing becoming accessible, medicines will be prescribed based on our genes in the near future. The ideal would be for each patient to get the drug that works most effectively for them, with the least side effects.
“Armed with the complete CRISPR toolkit, scientists can now exert nearly complete control over both the composition of the genome and its output.”
― Jennifer A. Doudna, winner of 2020 Nobel Prize in Chemistry
Adapted from a genome editing system that occurs naturally in bacteria, CRISPR-Cas9 has quickly become a key technology in gene editing. CRISPR technology is often described as a pair of “scissors” that can cut out a precise segment of malfunctioning DNA and replace it with a piece of good DNA. Gene editing has the potential to treat many genetic diseases and is regarded by some researchers as the ultimate precision medicine.
On 28 June 2021, the first clinical trial of a CRISPR-Cas9 drug infused directly into patients’ bloodstream to treat a rare disease was announced to be successful. This means that in the future, many medical conditions related to genetic mutations can be treated with a single highly effective gene therapy, possibly at a reasonable price.
Will whole genome sequencing be included in newborn screening tests?
Newborn babies are tested before they leave the hospital for serious and often genetic diseases. With gene sequencing and gene therapy becoming increasingly accessible and scalable, it is logical to imagine that in the future a genome file will be established for each newborn baby. The genetic information in this file will be used to design a personalized health plan to prevent future diseases, establish accurate diagnoses and optimize treatment plans. At Supertrends, we believe this personalized, preventive healthcare model based on genomics will happen within the next 10 years in developed countries.
There will be, however, ethical, social, and legal challenges in how we use genomic information. Will genetic testing be one of the newborn screening tests? You can share your thoughts about this question and more on the Supertrends Pro app. Click here to trial the app for free and search “Future of Healthcare” on the Supertrends timeline to join the discussion.
© 2021 Supertrends
 Kevin Davies, The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine, (Free Press, 2010)
 National Human Genome Research Institute, “Human Genome Project FAQ,” accessed June 29, 2021, https://www.genome.gov/human-genome-project/Completion-FAQ
 Antonio Regalado, “China’s BGI says it can sequence a genome for just $100,” MIT Technology Review, February 26, 2020, https://www.technologyreview.com/2020/02/26/905658/china-bgi-100-dollar-genome/
 NHS Genomics Education Programme, “Rare Disease, genomics and the future,” February 26, 2018, https://www.genomicseducation.hee.nhs.uk/blog/rare-disease-genomics-and-the-future/
 Bianca Nogrady, How cancer genomics is transforming diagnosis and treatment, Nature 579, S10-S11 (2020), doi: https://doi.org/10.1038/d41586-020-00845-4
 Karen Weintraub, “‘It’s a wow’: New CRISPR gene-editing success holds promise for treating many genetic diseases with a single dose”, USA Today, June 28, 2021, https://eu.usatoday.com/story/news/health/2021/06/26/new-crispr-gene-editing-success-holds-promise-genetic-diseases/5343114001/