Human Genomics and the Emerging Era of Precision Medicine
How genetic sequencing will unleash Predictive, Preventive, Personalised and Participatory healthcare
From China’s CRISPR babies that caused a furore worldwide, to ethical questions on changing the human gene pool forever, genetics has been consistently making headlines. But can it help us treat people better? Can it enable us to fight rare diseases? We sought the answer from the expert on the topic, Dr. Eric Green who headed The Human Genome Project which gave the world the first full human genome sequence. We caught Dr. Green, who is currently Director at the National Human Genome Research Institute (NHGRI) in the United States, as he spoke at IIT Delhi and dazzled us with insights on the future of genetic medicine. Here’s what we learnt.
There are about twenty thousand human genomes that we know of today. That’s lesser than a fruit-fly. What makes us distinct as humans is not the number of genes we have, but what we do with them. Each human cell has the same set of genes, with codes that differ and give each organ a specific function.
What Genetics can do Today
From the first time a full human genome was sequenced in 1990, the cost of genome sequencing has fallen by a million-fold. Genome sequencing is now affordable for clinical use. Today, genetics is gearing up to help us treat about five thousand rare genetic diseases, including cancer that result from specific gene mutations. It makes diagnostics easier and early vulnerabilities can be caught for preventive care. Leaps in genetic science have also made possible non-invasive prenatal testing for possible medical vulnerabilities.
A New Era of Precision Medicine
Genetics is helping us move from general medicine administered to everyone to a new era of Precision Medicine that personalises treatment best suited to each person’s body, environment, and lifestyle.
A patient’s genome sequence gives us more information than we ever had before. While gene mapping is quick and easy, understanding what a patient needs is still difficult and fraught with uncertainty. Research shows that an individual’s DNA is not fixed, but constantly changing, as epigenetic impressions occur throughout our lives. This is why we need more elements along with genetic information to make a Precision Medicine a reality.
According to Dr. Green, gene sequences need to be combined with a person’s physiology and context. The environment they live in, the food they consume, the lifestyle they live and the society they inhabit all affect their health as well. While genes are the codes of the body, external conditions effect how these codes express themselves. Second, a patient’s health history is crucial for effective treatment. This has been made accessible by Electric Health Records that can be shared across different hospitals and clinics. These three combined, make targeted medicine possible today.
Here’s a simple formula:
Genetic sequence+ Physiology/context+ Electronic Health Records = Personalised Precision Medicine
Looming Social and Regulatory Challenges
Genetic medicine is the new frontier of treatment, set to revolutionise the nature of healthcare en masse. The conversation is not just between white coat scientists but between multiple stakeholders. New ethical, legal and social questions emerge as genetics becomes public. Green reminded us that Genomics and society are intertwined, and a healthy balance between benefits and consequences needs to be struck.
As genetic medicine becomes more relevant to patients, new regulatory mechanisms that ensure privacy, increase access, index social inequalities and assure institutional safeguards need to be formulated.
Globally, genomics also faces a dearth in diversity. Most sequences mapped are European or Caucasian and do not adequately represent genetic diversity across culture, race, and ethnicity. Efforts are being made to correct these underrepresentations. Indian researchers are responding to the problem in their own way.
Genetics + Ayurveda = Wow😍
India’s Indigen Project aims to map the genetic diversity of the country and create a database, discussed in our previous issue’s TheInsideStory. More importantly,
India is taking genetics forward by using Ayurveda with a vision of Predictive, Preventive, Personalised & Participatory (P4) medicine, called Ayurgenomics that brings together fundamental principles of Ayurveda and genetics.
It is using frameworks like tridoshas and their molecular correlates to understand diseases and adaptability.
Finally, who controls genetic information and sets the rules for genetic data access globally will become crucial across states. The need is for more global collaborations between scientific research bodies across the globe to come together, share data and co-create the future of genomic medicine through coordinated effort.
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